Variant report

Variant	rs3810593
Chromosome Location	chr21:48055357-48055358
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr21:48054727-48056354	A549	lung:	n/a	n/a
2	REST	chr21:48055168-48056007	K562	blood:	n/a	chr21:48055415-48055433
3	JUND	chr21:48055242-48055856	A549	lung:	n/a	n/a
4	POLR2A	chr21:48054581-48056215	ProgFib	skin:	n/a	n/a
5	MAX	chr21:48054934-48056311	HepG2	liver:	n/a	n/a
6	POU2F2	chr21:48055268-48055492	GM12878	blood:	n/a	n/a
7	SP4	chr21:48055215-48055926	H1-hESC	embryonic stem cell:	n/a	chr21:48055236-48055252 chr21:48055778-48055794
8	SP1	chr21:48055208-48056118	GM12878	blood:	n/a	chr21:48055965-48055975 chr21:48055965-48055975 chr21:48055924-48055934 chr21:48055778-48055790 chr21:48055237-48055247 chr21:48055924-48055934 chr21:48055244-48055253 chr21:48055778-48055790 chr21:48055236-48055248 chr21:48055245-48055254 chr21:48055780-48055789
9	YY1	chr21:48054864-48056089	ECC-1	luminal epithelium:	n/a	chr21:48055183-48055205 chr21:48055985-48055996 chr21:48055186-48055194 chr21:48055314-48055325 chr21:48055408-48055422 chr21:48055404-48055418 chr21:48055183-48055193
10	MAX	chr21:48054229-48056363	MCF-7	breast:	n/a	n/a
11	REST	chr21:48054845-48056048	HL-60	blood:	n/a	chr21:48056006-48056015 chr21:48056006-48056019 chr21:48055415-48055433
12	MXI1	chr21:48054420-48056901	SK-N-SH	brain:	n/a	n/a
13	MAX	chr21:48054773-48056325	ECC-1	luminal epithelium:	n/a	n/a
14	SP4	chr21:48054966-48056103	H1-hESC	embryonic stem cell:	n/a	chr21:48055921-48055937 chr21:48055962-48055978 chr21:48055236-48055252 chr21:48055964-48055980 chr21:48055923-48055939 chr21:48055778-48055794
15	MYBL2	chr21:48055282-48056081	HepG2	liver:	n/a	n/a
16	TAF1	chr21:48054834-48055979	K562	blood:	n/a	n/a
17	MAX	chr21:48055168-48056187	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr21:48054822-48055787	K562	blood:	n/a	n/a
19	PAX5	chr21:48055263-48055681	GM12878	blood:	n/a	chr21:48055449-48055458
20	MYC	chr21:48054999-48056197	MCF-7	breast:	n/a	n/a
21	NFATC1	chr21:48055199-48055912	GM12878	blood:	n/a	n/a
22	POLR2A	chr21:48054863-48055853	H1-hESC	embryonic stem cell:	n/a	n/a
23	TAF1	chr21:48054941-48055515	GM12891	blood:	n/a	n/a
24	ETS1	chr21:48054997-48056178	K562	blood:	n/a	chr21:48056054-48056068 chr21:48055038-48055045 chr21:48056056-48056067 chr21:48055239-48055250 chr21:48056056-48056069 chr21:48056056-48056071 chr21:48055241-48055252
25	POLR2A	chr21:48054871-48056099	HepG2	liver:	n/a	n/a
26	TAF1	chr21:48055184-48055998	PFSK-1	brain:	n/a	n/a
27	TCF12	chr21:48054931-48056163	A549	lung:	n/a	chr21:48055483-48055491
28	MYC	chr21:48055351-48055368	HepG2	liver:	n/a	n/a
29	POLR2A	chr21:48054981-48056113	HepG2	liver:	n/a	n/a
30	TCF12	chr21:48054864-48056292	ECC-1	luminal epithelium:	n/a	chr21:48055483-48055491
31	RUNX3	chr21:48054780-48056074	GM12878	blood:	n/a	n/a
32	GABPA	chr21:48054328-48056211	MCF-7	breast:	n/a	chr21:48055401-48055412 chr21:48055572-48055581 chr21:48055403-48055412 chr21:48055398-48055412 chr21:48055567-48055581 chr21:48055401-48055415 chr21:48055570-48055581 chr21:48055268-48055277 chr21:48055570-48055584 chr21:48055448-48055462
33	MAX	chr21:48054843-48056253	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr21:48055220-48055370	GM12870	blood:	n/a	n/a
35	POLR2A	chr21:48054824-48056232	HL-60	blood:	n/a	n/a
36	POLR2A	chr21:48055162-48056110	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr21:48054687-48056130	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr21:48054732-48056191	Hela-S3	cervix:	n/a	n/a
39	REST	chr21:48054984-48055524	PFSK-1	brain:	n/a	chr21:48055415-48055433
40	YY1	chr21:48054972-48056190	HepG2	liver:	n/a	chr21:48055183-48055205 chr21:48055985-48055996 chr21:48055186-48055194 chr21:48055314-48055325 chr21:48055408-48055422 chr21:48055404-48055418 chr21:48055183-48055193
41	YY1	chr21:48054890-48056123	GM12892	blood:	n/a	chr21:48055183-48055205 chr21:48055985-48055996 chr21:48055186-48055194 chr21:48055314-48055325 chr21:48055408-48055422 chr21:48055404-48055418 chr21:48055183-48055193
42	ELF1	chr21:48054962-48056004	GM12878	blood:	n/a	chr21:48055244-48055256
43	MYC	chr21:48055084-48056212	MCF-7	breast:	n/a	n/a
44	E2F6	chr21:48055113-48055610	A549	lung:	n/a	chr21:48055402-48055411 chr21:48055571-48055580 chr21:48055449-48055458
45	ATF3	chr21:48055269-48055747	A549	lung:	n/a	n/a
46	POLR2A	chr21:48054899-48056130	H1-hESC	embryonic stem cell:	n/a	n/a
47	SIN3AK20	chr21:48055209-48056252	K562	blood:	n/a	n/a
48	POLR2A	chr21:48054894-48056208	Gliobla	brain:	n/a	n/a
49	ATF3	chr21:48055226-48055739	K562	blood:	n/a	chr21:48055237-48055245 chr21:48055268-48055277
50	POLR2A	chr21:48054866-48056257	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:48055338-48055388	BJ	skin:	n/a
2	chr21:48055338-48055388	RPTEC	kidney:	n/a
3	chr21:48055338-48055388	HRPEpiC	eye:	n/a
4	chr21:48055338-48055388	HIPEpiC	eye:	n/a
5	chr21:48055338-48055388	ECC-1	luminal epithelium:	n/a
6	chr21:48055338-48055388	PANC-1	pancreas:	n/a
7	chr21:48055338-48055388	PFSK-1	brain:	n/a
8	chr21:48055338-48055388	SK-N-SH	brain:	n/a
9	chr21:48055338-48055388	GM06990	blood:	n/a
10	chr21:48055338-48055388	HCPEpiC	choroid plexus:	n/a
11	chr21:48055338-48055388	GM12878	blood:	n/a
12	chr21:48055338-48055388	K562	blood:	n/a
13	chr21:48055338-48055388	AG09319	gingival:	n/a
14	chr21:48055338-48055388	T-47D	breast:	n/a
15	chr21:48055338-48055388	CMK	blood:	n/a
16	chr21:48055338-48055388	U87	brain:	n/a
17	chr21:48055338-48055388	A549	lung:	n/a
18	chr21:48055338-48055388	Hepatocyte	liver:	n/a
19	chr21:48055338-48055388	IMR90	lung:	fetal
20	chr21:48055338-48055388	SAEC	small airway:	n/a
21	chr21:48055338-48055388	ovcar-3	ovarian:	n/a
22	chr21:48055338-48055388	SK-N-SH_RA	brain:	n/a
23	chr21:48055338-48055388	HepG2	liver:	n/a
24	chr21:48055338-48055388	H1-hESC	embryonic stem cell:	embryo
25	chr21:48055338-48055388	Caco-2	colon:	n/a
26	chr21:48055338-48055388	HEK293	kidney:	embryo
27	chr21:48055338-48055388	MCF-7	breast:	n/a
28	chr21:48055338-48055388	NH-A	brain:	n/a
29	chr21:48055338-48055388	HCF	heart:	n/a
30	chr21:48055338-48055388	HMEC	breast:	n/a
31	chr21:48055338-48055388	GM12892	blood:	n/a
32	chr21:48055338-48055388	NHBE	bronchial:	n/a
33	chr21:48055338-48055388	SKMC	muscle:	n/a
34	chr21:48055338-48055388	BE2_C	brain:	n/a
35	chr21:48055338-48055388	HEEpiC	esophagus:	n/a
36	chr21:48055338-48055388	AG04449	skin:	fetal
37	chr21:48055338-48055388	AG10803	skin:	n/a
38	chr21:48055338-48055388	HCM	heart:	n/a
39	chr21:48055338-48055388	HUVEC	blood vessel:	n/a
40	chr21:48055338-48055388	HL-60	blood:	n/a
41	chr21:48055338-48055388	NT2-D1	testis:	n/a
42	chr21:48055338-48055388	MCF10A-Er-Src	breast:	n/a
43	chr21:48055338-48055388	HPAEpiC	pulmonary alveolar:	n/a
44	chr21:48055338-48055388	LNCaP	prostate:	n/a
45	chr21:48055338-48055388	AoSMC	blood vessel:	n/a
46	chr21:48055338-48055388	NB4	blood:	n/a
47	chr21:48055338-48055388	ProgFib	skin:	n/a
48	chr21:48055338-48055388	Hela-S3	cervix:	n/a
49	chr21:48055338-48055388	HRCEpiC	kidney:	n/a
50	chr21:48055338-48055388	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:48055126..48055735-chr3:196359119..196359988,2	NB4	blood:
2	chr1:207494972..207495556-chr21:48055180..48055885,2	Hela-S3	cervix:
3	chr17:80250394..80251099-chr21:48055154..48055814,2	Hela-S3	cervix:
4	chr21:47955411..47957434-chr21:48055066..48056738,2	K562	blood:
5	chr12:133287222..133287841-chr21:48055027..48055792,2	NB4	blood:
6	chr21:48054348..48057362-chr21:48062068..48064635,4	K562	blood:
7	chr21:47945113..47947005-chr21:48054397..48057093,2	MCF-7	breast:
8	chr21:48054316..48057026-chr21:48067023..48068538,2	K562	blood:
9	chr21:48024575..48027546-chr21:48055306..48056858,2	K562	blood:
10	chr21:48055000..48055796-chr9:132251161..132252102,2	Hela-S3	cervix:
11	chr17:25620789..25621556-chr21:48054884..48055505,2	Hela-S3	cervix:
12	chr16:81069280..81069978-chr21:48054904..48055633,2	Hela-S3	cervix:
13	chr21:47979855..47982153-chr21:48055162..48056734,2	MCF-7	breast:
14	chr21:48023339..48026982-chr21:48053855..48056881,6	MCF-7	breast:
15	chr14:75745044..75745708-chr21:48055135..48055722,2	Hela-S3	cervix:
16	chr21:48054376..48056073-chr21:48072079..48074243,2	K562	blood:
17	chr12:52444987..52445506-chr21:48055114..48055948,2	Hela-S3	cervix:
18	chr21:47705393..47707000-chr21:48055095..48056977,2	K562	blood:
19	chr21:48054963..48055735-chr3:50329204..50329933,2	NB4	blood:
20	chr19:35740149..35740892-chr21:48055035..48055759,2	Hela-S3	cervix:
21	chr1:220445319..220445878-chr21:48055351..48056081,2	Hela-S3	cervix:
22	chr21:48055080..48055596-chr4:39046312..39046846,2	Hela-S3	cervix:
23	chr21:48055038..48055911-chr5:158523369..158523869,2	Hela-S3	cervix:
24	chr15:55790459..55791055-chr21:48054984..48055756,2	HCT-116	colon:
25	chr21:47875258..47880014-chr21:48054452..48058643,10	K562	blood:
26	chr21:47972251..47974231-chr21:48053496..48055796,2	K562	blood:
27	chr17:75136430..75137196-chr21:48055351..48055948,2	Hela-S3	cervix:
28	chr21:48055128..48057107-chr21:48067363..48069357,2	MCF-7	breast:
29	chr21:48054835..48055519-chr5:158523349..158524349,3	MCF-7	breast:
30	chr21:47741705..47745829-chr21:48053977..48057908,5	MCF-7	breast:
31	chr21:47742343..47745058-chr21:48054003..48056846,3	K562	blood:
32	chr21:47878168..47880063-chr21:48054664..48057491,4	MCF-7	breast:
33	chr21:47647612..47649806-chr21:48055027..48056571,2	K562	blood:
34	chr21:47877118..47880921-chr21:48053345..48058142,9	K562	blood:

Variant related genes	Relation type
PRMT2	TF binding region
PRMT2	CpG island
ENSG00000109790	Chromatin interaction
ENSG00000214706	Chromatin interaction
ENSG00000164330	Chromatin interaction
ENSG00000160285	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000202239	Chromatin interaction
ENSG00000261771	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000265692	Chromatin interaction
ENSG00000160310	Chromatin interaction
ENSG00000215424	Chromatin interaction
ENSG00000230982	Chromatin interaction
ENSG00000232065	Chromatin interaction
ENSG00000204054	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000109046	Chromatin interaction
ENSG00000129657	Chromatin interaction
ENSG00000263583	Chromatin interaction
ENSG00000256061	Chromatin interaction
ENSG00000118873	Chromatin interaction
ENSG00000196352	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000160307	Chromatin interaction
ENSG00000247077	Chromatin interaction
ENSG00000160305	Chromatin interaction
ENSG00000160298	Chromatin interaction
ENSG00000272283	Chromatin interaction
ENSG00000160299	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2300408	0.81[ASN][1000 genomes]
rs2839368	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
2	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
3	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
4	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
5	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
6	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
7	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
8	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
9	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
10	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
11	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
12	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
13	nsv1062858	chr21:47750884-48091343	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
14	nsv1058397	chr21:47851176-48091343	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
15	nsv1065502	chr21:47865215-48091343	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
16	nsv1061442	chr21:47875370-48091343	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
17	nsv1059466	chr21:47894705-48096945	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	n/a
18	nsv1061185	chr21:47901250-48096945	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	n/a
19	nsv587999	chr21:47941916-48103851	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
20	nsv1058589	chr21:47948030-48091343	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
21	nsv1057643	chr21:47953820-48056600	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
22	nsv544497	chr21:47953820-48056600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
23	nsv1056734	chr21:47970933-48096945	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
24	nsv1062457	chr21:47975809-48096945	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
25	nsv1058462	chr21:47980278-48096945	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
26	nsv1062401	chr21:47983657-48066477	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
27	nsv1061638	chr21:47985655-48088263	Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
28	nsv1059012	chr21:47985655-48096945	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
29	esv2756756	chr21:47986670-48077812	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
30	esv2758822	chr21:47986670-48077812	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	n/a
31	nsv1055904	chr21:47986670-48096945	Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
32	nsv1064633	chr21:47987013-48096945	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
33	nsv1059493	chr21:47990008-48096945	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
34	nsv1063191	chr21:47992710-48096945	ZNF genes & repeats Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
35	nsv459314	chr21:47995443-48072916	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	n/a
36	nsv588002	chr21:47995443-48072916	Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	n/a
37	nsv1060610	chr21:48004056-48096945	Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
38	esv34393	chr21:48015672-48077812	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	n/a
39	nsv532290	chr21:48018850-48090317	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
40	nsv1061192	chr21:48019811-48088263	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
41	nsv1056608	chr21:48021655-48074364	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	n/a
42	nsv1056829	chr21:48021655-48096945	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
43	nsv529350	chr21:48021759-48080911	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	n/a
44	nsv1062021	chr21:48025794-48096945	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
45	nsv1058993	chr21:48026443-48096945	Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
46	nsv1060360	chr21:48027084-48096945	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
47	nsv1061246	chr21:48028756-48074364	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	n/a
48	nsv1056101	chr21:48028997-48074364	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	n/a
49	nsv1060002	chr21:48030333-48096945	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
50	nsv1060932	chr21:48036050-48074364	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3810593	C21orf57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48054400-48055600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr21:48054400-48056200	Active TSS	Brain Anterior Caudate	brain
3	chr21:48054600-48055400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr21:48054600-48055400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:48054600-48055600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr21:48054600-48055600	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr21:48054600-48055800	Active TSS	Fetal Brain Female	brain
8	chr21:48054600-48056000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:48054600-48056000	Active TSS	Duodenum Mucosa	Duodenum
10	chr21:48054600-48056200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr21:48054600-48056200	Active TSS	Fetal Kidney	kidney
12	chr21:48054600-48056200	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr21:48054600-48056400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:48054600-48056400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:48054600-48056400	Active TSS	Brain Angular Gyrus	brain
16	chr21:48054600-48056400	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr21:48054600-48056400	Active TSS	HSMM	muscle
18	chr21:48054600-48056400	Active TSS	HSMMtube	muscle
19	chr21:48054600-48056600	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr21:48054600-48056600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr21:48054600-48056800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr21:48054800-48055400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr21:48054800-48055400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr21:48054800-48055600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:48054800-48055600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr21:48054800-48055800	Active TSS	Liver	Liver
27	chr21:48054800-48055800	Active TSS	Brain Germinal Matrix	brain
28	chr21:48054800-48055800	Active TSS	Colonic Mucosa	Colon
29	chr21:48054800-48056000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:48054800-48056000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:48054800-48056000	Active TSS	Fetal Muscle Trunk	muscle
32	chr21:48054800-48056000	Active TSS	Gastric	stomach
33	chr21:48054800-48056000	Active TSS	Pancreas	Pancrea
34	chr21:48054800-48056000	Active TSS	Thymus	Thymus
35	chr21:48054800-48056200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr21:48054800-48056200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr21:48054800-48056200	Active TSS	Colon Smooth Muscle	Colon
38	chr21:48054800-48056200	Active TSS	Lung	lung
39	chr21:48054800-48056200	Active TSS	Rectal Smooth Muscle	rectum
40	chr21:48054800-48056400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr21:48054800-48056400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr21:48054800-48056400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr21:48054800-48056400	Active TSS	Aorta	Aorta
44	chr21:48054800-48056400	Active TSS	Brain Substantia Nigra	brain
45	chr21:48054800-48056400	Active TSS	Esophagus	oesophagus
46	chr21:48054800-48056400	Active TSS	Fetal Intestine Large	intestine
47	chr21:48054800-48056400	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr21:48054800-48056400	Active TSS	Left Ventricle	heart
49	chr21:48054800-48056400	Active TSS	GM12878-XiMat	blood
50	chr21:48054800-48056600	Active TSS	H9 Cell Line	embryonic stem cell

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