Variant report

Variant	rs58670754
Chromosome Location	chr21:45759746-45759747
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:141)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:141 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45758845-45759807	Hela-S3	cervix:	n/a	n/a
2	MYC	chr21:45758922-45759860	K562	blood:	n/a	n/a
3	RELA	chr21:45759004-45759789	GM15510	blood:	n/a	n/a
4	POLR2A	chr21:45758862-45759908	PFSK-1	brain:	n/a	n/a
5	YY1	chr21:45758915-45759832	H1-hESC	embryonic stem cell:	n/a	chr21:45758972-45758986
6	POLR2A	chr21:45758892-45759860	K562	blood:	n/a	n/a
7	ELF1	chr21:45758888-45759756	MCF-7	breast:	n/a	n/a
8	TBP	chr21:45758989-45759915	Hela-S3	cervix:	n/a	n/a
9	MXI1	chr21:45758824-45760305	SK-N-SH	brain:	n/a	n/a
10	CREB1	chr21:45758927-45759817	GM12878	blood:	n/a	n/a
11	POLR2A	chr21:45758810-45759782	HUVEC	blood vessel:	n/a	n/a
12	ARID3A	chr21:45759286-45759769	HepG2	liver:	n/a	n/a
13	POLR2A	chr21:45758910-45759837	GM12891	blood:	n/a	n/a
14	POLR2A	chr21:45758907-45759966	GM12878	blood:	n/a	n/a
15	POLR2A	chr21:45758891-45760119	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr21:45758885-45759919	GM19099	blood:	n/a	n/a
17	POLR2A	chr21:45758917-45759817	K562	blood:	n/a	n/a
18	MAZ	chr21:45758840-45759788	K562	blood:	n/a	n/a
19	GATA3	chr21:45759558-45759915	SH-SY5Y	brain:	n/a	chr21:45759670-45759687 chr21:45759681-45759691 chr21:45759681-45759688 chr21:45759678-45759690 chr21:45759681-45759688 chr21:45759681-45759688
20	TAF1	chr21:45758912-45759838	ECC-1	luminal epithelium:	n/a	n/a
21	CREB1	chr21:45758907-45760034	GM12878	blood:	n/a	n/a
22	NFIC	chr21:45759097-45759786	GM12878	blood:	n/a	n/a
23	ATF1	chr21:45759028-45759926	K562	blood:	n/a	n/a
24	POLR2A	chr21:45758944-45760374	GM12891	blood:	n/a	n/a
25	TEAD4	chr21:45758938-45759874	K562	blood:	n/a	n/a
26	POLR2A	chr21:45758923-45759829	SK-N-SH	brain:	n/a	n/a
27	GATA1	chr21:45759076-45759854	PBDE	blood:	n/a	chr21:45759670-45759687 chr21:45759681-45759691 chr21:45759681-45759688 chr21:45759678-45759690 chr21:45759681-45759688 chr21:45759681-45759688
28	POLR2A	chr21:45758918-45760138	GM12892	blood:	n/a	n/a
29	ELF1	chr21:45758842-45759903	MCF-7	breast:	n/a	n/a
30	MYC	chr21:45758934-45759774	K562	blood:	n/a	n/a
31	MXI1	chr21:45758919-45760062	IMR90	lung:	n/a	n/a
32	POLR2A	chr21:45758878-45759782	GM18951	blood:	n/a	n/a
33	POLR2A	chr21:45759012-45759845	HCT-116	colon:	n/a	n/a
34	POLR2A	chr21:45758956-45760104	U87	brain:	n/a	n/a
35	POLR2A	chr21:45758874-45760101	HepG2	liver:	n/a	n/a
36	USF2	chr21:45759172-45759770	Hela-S3	cervix:	n/a	chr21:45759358-45759374
37	ESRRA	chr21:45758933-45760833	GM12878	blood:	n/a	n/a
38	POLR2A	chr21:45758722-45760494	K562	blood:	n/a	n/a
39	POLR2A	chr21:45758785-45759940	ProgFib	skin:	n/a	n/a
40	CREB1	chr21:45758896-45759806	H1-hESC	embryonic stem cell:	n/a	n/a
41	RELA	chr21:45759057-45759867	GM19099	blood:	n/a	n/a
42	POLR2A	chr21:45758973-45760053	PBDE	blood:	n/a	n/a
43	YY1	chr21:45758923-45759760	GM12891	blood:	n/a	chr21:45758972-45758986
44	TBL1XR1	chr21:45759004-45759905	K562	blood:	n/a	n/a
45	MTA3	chr21:45758904-45760234	GM12878	blood:	n/a	n/a
46	POLR2A	chr21:45758925-45760256	GM12891	blood:	n/a	n/a
47	POLR2A	chr21:45758885-45759865	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr21:45758930-45760053	HL-60	blood:	n/a	n/a
49	POLR2A	chr21:45758787-45759754	MCF-7	breast:	n/a	n/a
50	TAF1	chr21:45758812-45759830	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45759733-45759783	ECC-1	luminal epithelium:	n/a
2	chr21:45759733-45759783	U87	brain:	n/a
3	chr21:45759733-45759783	Caco-2	colon:	n/a
4	chr21:45759733-45759783	LNCaP	prostate:	n/a
5	chr21:45759733-45759783	PANC-1	pancreas:	n/a
6	chr21:45759733-45759783	AG04450	lung:	fetal
7	chr21:45759733-45759783	AG10803	skin:	n/a
8	chr21:45759733-45759783	AG04449	skin:	fetal
9	chr21:45759733-45759783	K562	blood:	n/a
10	chr21:45759733-45759783	HAEpiC	amniotic membrane:	n/a
11	chr21:45759733-45759783	HPAEpiC	pulmonary alveolar:	n/a
12	chr21:45759733-45759783	HL-60	blood:	n/a
13	chr21:45759733-45759783	PFSK-1	brain:	n/a
14	chr21:45759733-45759783	HEEpiC	esophagus:	n/a
15	chr21:45759733-45759783	HUVEC	blood vessel:	n/a
16	chr21:45759733-45759783	AG09309	skin:	n/a
17	chr21:45759733-45759783	T-47D	breast:	n/a
18	chr21:45759733-45759783	H1-hESC	embryonic stem cell:	embryo
19	chr21:45759733-45759783	HNPCEpiC	eye:	n/a
20	chr21:45759733-45759783	HEK293	kidney:	embryo
21	chr21:45759733-45759783	A549	lung:	n/a
22	chr21:45759733-45759783	GM12892	blood:	n/a
23	chr21:45759733-45759783	HIPEpiC	eye:	n/a
24	chr21:45759733-45759783	Hepatocyte	liver:	n/a
25	chr21:45759733-45759783	NB4	blood:	n/a
26	chr21:45759733-45759783	GM19239	blood:	n/a
27	chr21:45759733-45759783	MCF10A-Er-Src	breast:	n/a
28	chr21:45759733-45759783	HMEC	breast:	n/a
29	chr21:45759733-45759783	HRCEpiC	kidney:	n/a
30	chr21:45759733-45759783	HCPEpiC	choroid plexus:	n/a
31	chr21:45759733-45759783	HCF	heart:	n/a
32	chr21:45759733-45759783	GM06990	blood:	n/a
33	chr21:45759733-45759783	SK-N-SH_RA	brain:	n/a
34	chr21:45759733-45759783	NH-A	brain:	n/a
35	chr21:45759733-45759783	GM12891	blood:	n/a
36	chr21:45759733-45759783	BE2_C	brain:	n/a
37	chr21:45759733-45759783	BJ	skin:	n/a
38	chr21:45759733-45759783	HepG2	liver:	n/a
39	chr21:45759733-45759783	HRPEpiC	eye:	n/a
40	chr21:45759733-45759783	Jurkat	blood:	n/a
41	chr21:45759733-45759783	NHBE	bronchial:	n/a
42	chr21:45759733-45759783	GM12878	blood:	n/a
43	chr21:45759733-45759783	RPTEC	kidney:	n/a
44	chr21:45759733-45759783	HCM	heart:	n/a
45	chr21:45759733-45759783	SKMC	muscle:	n/a
46	chr21:45759733-45759783	SAEC	small airway:	n/a
47	chr21:45759733-45759783	HRE	kidney:	n/a
48	chr21:45759733-45759783	HCT-116	colon:	n/a
49	chr21:45759733-45759783	CMK	blood:	n/a
50	chr21:45759733-45759783	ovcar-3	ovarian:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45759032..45759920-chr4:76598161..76598715,2	Hela-S3	cervix:
2	chr21:45719852..45723806-chr21:45756512..45759776,5	MCF-7	breast:
3	chr21:45137459..45139006-chr21:45757903..45760574,2	K562	blood:
4	chr21:45758316..45760568-chr21:45903461..45906076,2	MCF-7	breast:
5	chr21:45759454..45761302-chr21:45817481..45820269,2	MCF-7	breast:
6	chr21:45758282..45760774-chr21:46492663..46495375,2	K562	blood:
7	chr21:45758998..45760559-chr21:45788952..45791849,2	K562	blood:
8	chr21:45534290..45536622-chr21:45758168..45760821,2	MCF-7	breast:
9	chr21:45552120..45555319-chr21:45756917..45761085,4	MCF-7	breast:
10	chr21:45759510..45761170-chr21:45775846..45778122,2	MCF-7	breast:
11	chr21:45759142..45761625-chr21:45788983..45791784,2	MCF-7	breast:
12	chr21:45572051..45574951-chr21:45759360..45761487,2	MCF-7	breast:
13	chr21:45757779..45764116-chr21:45768144..45773804,8	K562	blood:
14	chr21:45525933..45529754-chr21:45756924..45759975,4	MCF-7	breast:
15	chr21:45756335..45760049-chr21:45874026..45878349,7	MCF-7	breast:
16	chr21:45758851..45761192-chr21:45902340..45905536,3	K562	blood:
17	chr21:45757587..45760440-chr21:45787714..45792009,6	MCF-7	breast:
18	chr21:45759332..45762202-chr21:46401105..46402631,2	K562	blood:

No data

Variant related genes	Relation type
C21orf2	TF binding region
C21orf2	CpG island
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000260256	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000228709	Chromatin interaction
ENSG00000160233	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000138757	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000142185	Chromatin interaction
ENSG00000229356	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11702291	0.97[EUR][1000 genomes]
rs11870	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35274657	0.92[EUR][1000 genomes]
rs56040242	0.94[EUR][1000 genomes]
rs56193719	0.94[EUR][1000 genomes]
rs56212056	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56242109	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57125046	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58942895	0.94[EUR][1000 genomes]
rs60027384	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73374031	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
7	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
8	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv459295	chr21:45629565-45849864	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	nsv587740	chr21:45629565-45849864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
11	nsv913906	chr21:45657970-45818609	Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
12	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
13	nsv913910	chr21:45681153-45787250	Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv913911	chr21:45681153-45893907	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
15	nsv913912	chr21:45687581-45768598	Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
16	nsv913913	chr21:45687581-45787250	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
17	nsv913917	chr21:45697755-45787250	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
18	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
19	nsv913920	chr21:45699404-45824792	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
20	nsv913921	chr21:45699404-45854431	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
21	nsv913922	chr21:45699404-45893907	Genic enhancers Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
22	nsv913926	chr21:45700641-45764397	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
23	nsv913927	chr21:45700641-45787250	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
24	nsv913928	chr21:45700641-45811343	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
25	nsv913929	chr21:45700641-45860912	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
26	nsv913930	chr21:45700641-45893907	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
27	nsv913931	chr21:45703660-45764397	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
28	nsv913932	chr21:45703660-45787250	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
29	nsv913933	chr21:45703660-45811343	ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
30	nsv913935	chr21:45709153-45787250	Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription 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	45 gene(s)	inside rSNPs	diseases
31	nsv913936	chr21:45709153-45811343	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
32	nsv913937	chr21:45709153-45865167	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
33	nsv913938	chr21:45712588-45787250	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
34	nsv913939	chr21:45712588-45818609	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
35	nsv913940	chr21:45712588-45893907	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
36	nsv587780	chr21:45722442-45764397	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
37	nsv913941	chr21:45722442-45885589	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
38	nsv1058359	chr21:45724055-45941566	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
39	nsv1065203	chr21:45731690-45941566	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
40	nsv544473	chr21:45731690-45941566	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
41	nsv913942	chr21:45740823-45941566	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
42	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers 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	52 gene(s)	inside rSNPs	diseases
43	nsv1059107	chr21:45749304-45813036	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
44	nsv828909	chr21:45755663-45770002	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
45	esv3422475	chr21:45757549-45760697	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
46	nsv1067264	chr21:45757599-45941566	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
47	nsv544474	chr21:45757599-45941566	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
48	nsv913944	chr21:45757905-45941566	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
49	esv3431505	chr21:45757974-45759872	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs58670754	C21orf2	cis	Esophagus Muscularis	GTEx
rs58670754	AP001062.7	cis	Thyroid	GTEx
rs58670754	C21orf2	cis	Stomach	GTEx
rs58670754	AP001062.8	cis	Artery Tibial	GTEx
rs58670754	AP001062.8	cis	Adipose Subcutaneous	GTEx
rs58670754	C21orf2	cis	Whole Blood	GTEx
rs58670754	AP001062.8	cis	Nerve Tibial	GTEx
rs58670754	AP001062.8	cis	lung	GTEx
rs58670754	AP001062.7	cis	Artery Tibial	GTEx
rs58670754	AP001062.7	cis	Whole Blood	GTEx
rs58670754	C21orf2	cis	Nerve Tibial	GTEx
rs58670754	C21orf2	cis	lung	GTEx
rs58670754	C21orf2	cis	Skin Sun Exposed Lower leg	GTEx
rs58670754	C21orf2	cis	Adipose Subcutaneous	GTEx
rs58670754	C21orf2	cis	Esophagus Mucosa	GTEx
rs58670754	AP001062.7	cis	lung	GTEx
rs58670754	AP001062.8	cis	Thyroid	GTEx
rs58670754	C21orf2	cis	Artery Tibial	GTEx
rs58670754	AP001062.7	cis	Esophagus Mucosa	GTEx
rs58670754	AP001062.8	cis	Whole Blood	GTEx
rs58670754	C21orf2	cis	Thyroid	GTEx
rs58670754	C21orf2	cis	multi-tissue	Pritchard
rs58670754	AP001062.7	cis	Skin Sun Exposed Lower leg	GTEx
rs58670754	AP001062.8	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45758000-45760000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr21:45758000-45760000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr21:45758000-45760200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:45758200-45759800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr21:45758200-45759800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr21:45758200-45759800	Active TSS	Aorta	Aorta
7	chr21:45758200-45759800	Active TSS	Colon Smooth Muscle	Colon
8	chr21:45758200-45759800	Active TSS	Fetal Kidney	kidney
9	chr21:45758200-45759800	Active TSS	Psoas Muscle	Psoas
10	chr21:45758200-45759800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr21:45758200-45759800	Active TSS	A549	lung
12	chr21:45758200-45760000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr21:45758200-45760000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr21:45758200-45760200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:45758200-45760200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:45758400-45759800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr21:45758400-45759800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr21:45758400-45759800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr21:45758400-45759800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:45758400-45759800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:45758400-45759800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr21:45758400-45759800	Active TSS	Fetal Brain Female	brain
23	chr21:45758400-45759800	Active TSS	Gastric	stomach
24	chr21:45758400-45759800	Active TSS	Ovary	ovary
25	chr21:45758400-45759800	Active TSS	NHDF-Ad	bronchial
26	chr21:45758400-45760000	Active TSS	H1 Cell Line	embryonic stem cell
27	chr21:45758400-45760000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr21:45758400-45760000	Active TSS	Left Ventricle	heart
29	chr21:45758400-45760000	Active TSS	Right Atrium	heart
30	chr21:45758400-45760000	Active TSS	GM12878-XiMat	blood
31	chr21:45758400-45760200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr21:45758600-45759800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr21:45758600-45759800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr21:45758600-45759800	Active TSS	Colonic Mucosa	Colon
35	chr21:45758600-45760000	Active TSS	Fetal Muscle Trunk	muscle
36	chr21:45759000-45759800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr21:45759000-45759800	Active TSS	Esophagus	oesophagus
38	chr21:45759000-45759800	Active TSS	Lung	lung
39	chr21:45759000-45759800	Active TSS	Placenta Amnion	Placenta Amnion
40	chr21:45759000-45759800	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr21:45759000-45759800	Active TSS	Small Intestine	intestine
42	chr21:45759000-45760000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr21:45759400-45759800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:45759400-45759800	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
45	chr21:45759400-45759800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:45759400-45759800	ZNF genes & repeats	Fetal Brain Male	brain
47	chr21:45759400-45759800	Flanking Active TSS	Pancreas	Pancrea
48	chr21:45759400-45759800	Bivalent/Poised TSS	HepG2	liver
49	chr21:45759400-45759800	Flanking Active TSS	HSMM	muscle
50	chr21:45759400-45760000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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