Variant report

Variant	nsv529350
Chromosome Location	chr21:48021759-48080911
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:876)
CpG islands
(count:1894)
Chromatin interactive
region (count:110)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:876 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:48028361-48029224	GM12878	blood:	n/a	n/a
2	ATF2	chr21:48054800-48055606	GM12878	blood:	n/a	n/a
3	ATF3	chr21:48055269-48055855	K562	blood:	n/a	n/a
4	ATF3	chr21:48054937-48055231	K562	blood:	n/a	n/a
5	ATF3	chr21:48055269-48055747	A549	lung:	n/a	n/a
6	ATF3	chr21:48055226-48055739	K562	blood:	n/a	chr21:48055237-48055245 chr21:48055268-48055277
7	ATF3	chr21:48055257-48055907	A549	lung:	n/a	chr21:48055268-48055277
8	BATF	chr21:48058299-48058586	GM12878	blood:	n/a	n/a
9	BATF	chr21:48028436-48029053	GM12878	blood:	n/a	n/a
10	BATF	chr21:48058236-48058618	GM12878	blood:	n/a	n/a
11	BATF	chr21:48028473-48028947	GM12878	blood:	n/a	n/a
12	BCL11A	chr21:48058312-48058550	GM12878	blood:	n/a	n/a
13	BCL11A	chr21:48058286-48058514	GM12878	blood:	n/a	n/a
14	BCLAF1	chr21:48028466-48029094	GM12878	blood:	n/a	n/a
15	BCLAF1	chr21:48025984-48026402	GM12878	blood:	n/a	n/a
16	BCLAF1	chr21:48054738-48055175	GM12878	blood:	n/a	n/a
17	CBX3	chr21:48075124-48075496	K562	blood:	n/a	n/a
18	CBX3	chr21:48054356-48056106	K562	blood:	n/a	n/a
19	CEBPB	chr21:48064981-48065204	K562	blood:	n/a	n/a
20	CEBPB	chr21:48047658-48048067	K562	blood:	n/a	n/a
21	CEBPB	chr21:48047791-48047968	K562	blood:	n/a	n/a
22	CEBPB	chr21:48058257-48058541	K562	blood:	n/a	n/a
23	CEBPD	chr21:48055110-48055815	HepG2	liver:	n/a	n/a
24	CEBPD	chr21:48054859-48055913	K562	blood:	n/a	n/a
25	CREB1	chr21:48054806-48056067	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr21:48054844-48055240	ECC-1	luminal epithelium:	n/a	n/a
27	CREB1	chr21:48054788-48056180	GM12878	blood:	n/a	n/a
28	CREB1	chr21:48054978-48055140	A549	lung:	n/a	n/a
29	CREB1	chr21:48054804-48055837	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr21:48054848-48056254	K562	blood:	n/a	n/a
31	CREB1	chr21:48054821-48056265	HepG2	liver:	n/a	n/a
32	CREB1	chr21:48054800-48055327	ECC-1	luminal epithelium:	n/a	n/a
33	CREB1	chr21:48054940-48056118	A549	lung:	n/a	n/a
34	CTCF	chr21:48054980-48055130	HFF-Myc	foreskin:	n/a	chr21:48055091-48055107
35	CTCF	chr21:48059760-48059910	HL-60	blood:	n/a	n/a
36	CTCF	chr21:48080560-48080710	AG04450	lung:	n/a	n/a
37	CTCF	chr21:48054980-48055130	HepG2	liver:	n/a	chr21:48055091-48055107
38	CTCF	chr21:48059780-48059930	AG09309	skin:	n/a	n/a
39	CTCF	chr21:48054780-48054930	GM12864	blood:	n/a	n/a
40	CTCF	chr21:48065020-48065170	HMEC	breast:	n/a	n/a
41	CTCF	chr21:48054880-48055110	GM12874	blood:	n/a	chr21:48055091-48055107
42	CTCF	chr21:48054980-48055130	HCM	heart:	n/a	chr21:48055091-48055107
43	CTCF	chr21:48059780-48059930	GM12864	blood:	n/a	n/a
44	CTCF	chr21:48054980-48055130	HPAF	blood vessel:	n/a	chr21:48055091-48055107
45	CTCF	chr21:48059780-48059930	HCFaa	heart:	n/a	n/a
46	CTCF	chr21:48054980-48055130	GM12873	blood:	n/a	chr21:48055091-48055107
47	CTCF	chr21:48054996-48055180	Fibrobl	skin:	n/a	chr21:48055091-48055107
48	CTCF	chr21:48059800-48059950	HRE	kidney:	n/a	n/a
49	CTCF	chr21:48055021-48055172	K562	blood:	n/a	chr21:48055091-48055107
50	CTCF	chr21:48054960-48055110	MCF-7	breast:	n/a	chr21:48055091-48055107

(count:1894 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:48068748-48068798	PrEC	prostate:	n/a
2	chr21:48055212-48055262	HEEpiC	esophagus:	n/a
3	chr21:48055893-48055943	NHDF-neo	bronchial:	n/a
4	chr21:48068748-48068798	PrEC	prostate:	n/a
5	chr21:48055212-48055262	HEEpiC	esophagus:	n/a
6	chr21:48055893-48055943	NHDF-neo	bronchial:	n/a
7	chr21:48026181-48026231	HAEpiC	amniotic membrane:	n/a
8	chr21:48068638-48068688	HRCEpiC	kidney:	n/a
9	chr21:48068452-48068502	HMEC	breast:	n/a
10	chr21:48055631-48055681	AG04450	lung:	fetal
11	chr21:48079700-48079750	GM12878	blood:	n/a
12	chr21:48055629-48055679	HEK293	kidney:	embryo
13	chr21:48021941-48021991	HL-60	blood:	n/a
14	chr21:48026181-48026231	Hela-S3	cervix:	n/a
15	chr21:48068585-48068635	HNPCEpiC	eye:	n/a
16	chr21:48054563-48054613	Hela-S3	cervix:	n/a
17	chr21:48072745-48072795	GM06990	blood:	n/a
18	chr21:48055715-48055765	AG10803	skin:	n/a
19	chr21:48054897-48054947	NT2-D1	testis:	n/a
20	chr21:48025155-48025205	HEEpiC	esophagus:	n/a
21	chr21:48055224-48055274	GM19239	blood:	n/a
22	chr21:48055629-48055679	HRCEpiC	kidney:	n/a
23	chr21:48068638-48068688	Caco-2	colon:	n/a
24	chr21:48025155-48025205	SAEC	small airway:	n/a
25	chr21:48055224-48055274	NT2-D1	testis:	n/a
26	chr21:48026181-48026231	SK-N-SH	brain:	n/a
27	chr21:48078809-48078859	AG09309	skin:	n/a
28	chr21:48055631-48055681	HL-60	blood:	n/a
29	chr21:48055224-48055274	SK-N-MC	brain:	n/a
30	chr21:48054897-48054947	BE2_C	brain:	n/a
31	chr21:48024639-48024689	HAEpiC	amniotic membrane:	n/a
32	chr21:48022339-48022389	GM19239	blood:	n/a
33	chr21:48024683-48024733	HL-60	blood:	n/a
34	chr21:48072745-48072795	NT2-D1	testis:	n/a
35	chr21:48078809-48078859	AoSMC	blood vessel:	n/a
36	chr21:48026043-48026093	AG09319	gingival:	n/a
37	chr21:48055631-48055681	GM19239	blood:	n/a
38	chr21:48024639-48024689	NHDF-neo	bronchial:	n/a
39	chr21:48068748-48068798	SK-N-SH	brain:	n/a
40	chr21:48072745-48072795	HCPEpiC	choroid plexus:	n/a
41	chr21:48055519-48055569	HIPEpiC	eye:	n/a
42	chr21:48068638-48068688	HNPCEpiC	eye:	n/a
43	chr21:48024639-48024689	HCF	heart:	n/a
44	chr21:48072745-48072795	Hela-S3	cervix:	n/a
45	chr21:48056967-48057017	HNPCEpiC	eye:	n/a
46	chr21:48054563-48054613	BJ	skin:	n/a
47	chr21:48052757-48052807	HIPEpiC	eye:	n/a
48	chr21:48068748-48068798	A549	lung:	n/a
49	chr21:48055338-48055388	NH-A	brain:	n/a
50	chr21:48055629-48055679	HNPCEpiC	eye:	n/a

(count:110 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:48063366..48065608-chr21:48072817..48075580,2	MCF-7	breast:
2	chr21:48031009..48033882-chr21:48053845..48056552,2	MCF-7	breast:
3	chr21:47979038..47981600-chr21:48055778..48057959,2	MCF-7	breast:
4	chr19:35740149..35740892-chr21:48055035..48055759,2	Hela-S3	cervix:
5	chr21:48055854..48056356-chr6:27860488..27861098,2	Hela-S3	cervix:
6	chr21:48069459..48071150-chr21:48080115..48082921,2	MCF-7	breast:
7	chr21:47980753..47982887-chr21:48026648..48028879,2	MCF-7	breast:
8	chr21:48060242..48061768-chr21:48067203..48069448,2	K562	blood:
9	chr21:48052631..48057186-chr21:48078871..48083170,5	MCF-7	breast:
10	chr17:80250394..80251099-chr21:48055154..48055814,2	Hela-S3	cervix:
11	chr21:47878168..47880063-chr21:48054664..48057491,4	MCF-7	breast:
12	chr21:48016127..48018173-chr21:48020936..48022713,2	K562	blood:
13	chr21:48048775..48050687-chr21:48053494..48055105,2	MCF-7	breast:
14	chr17:75136430..75137196-chr21:48055351..48055948,2	Hela-S3	cervix:
15	chr21:48054376..48056073-chr21:48072079..48074243,2	K562	blood:
16	chr21:48023339..48026982-chr21:48053855..48056881,6	MCF-7	breast:
17	chr21:47647612..47649806-chr21:48055027..48056571,2	K562	blood:
18	chr21:48054376..48056073-chr21:48072079..48074243,2	K562	blood:
19	chr21:47877118..47880921-chr21:48053345..48058142,9	K562	blood:
20	chr17:25620789..25621556-chr21:48054884..48055505,2	Hela-S3	cervix:
21	chr21:48024458..48026156-chr21:48057416..48059802,2	K562	blood:
22	chr21:48068008..48071695-chr21:48072637..48076225,4	MCF-7	breast:
23	chr21:48010670..48012334-chr21:48047542..48049804,2	K562	blood:
24	chr21:48065668..48068253-chr21:48070018..48072007,3	MCF-7	breast:
25	chr21:48025522..48028149-chr21:48060514..48063166,2	MCF-7	breast:
26	chr21:48055126..48055735-chr3:196359119..196359988,2	NB4	blood:
27	chr15:55790459..55791055-chr21:48054984..48055756,2	HCT-116	colon:
28	chr21:48021540..48023901-chr21:48055495..48057109,2	MCF-7	breast:
29	chr21:48024575..48027546-chr21:48055306..48056858,2	K562	blood:
30	chr21:48017941..48023722-chr21:48025363..48028133,5	K562	blood:
31	chr21:48066242..48069643-chr21:48070010..48074183,7	K562	blood:
32	chr21:48066570..48068825-chr21:48072683..48075681,2	K562	blood:
33	chr21:48066570..48068825-chr21:48072683..48075681,2	K562	blood:
34	chr21:48024544..48027148-chr21:48052838..48054939,2	K562	blood:
35	chr21:48045325..48047440-chr21:48054807..48056877,2	K562	blood:
36	chr21:48055080..48055596-chr4:39046312..39046846,2	Hela-S3	cervix:
37	chr13:48877615..48878228-chr21:48055384..48056111,2	Hela-S3	cervix:
38	chr14:75745044..75745708-chr21:48055135..48055722,2	Hela-S3	cervix:
39	chr21:48053543..48058001-chr21:48077675..48082884,7	K562	blood:
40	chr21:48075305..48080605-chr21:48080906..48086226,8	K562	blood:
41	chr21:48055128..48057107-chr21:48067363..48069357,2	MCF-7	breast:
42	chr16:81069280..81069978-chr21:48054904..48055633,2	Hela-S3	cervix:
43	chr21:48043406..48045723-chr21:48050633..48054621,3	K562	blood:
44	chr21:47972251..47974231-chr21:48053496..48055796,2	K562	blood:
45	chr1:220445319..220445878-chr21:48055351..48056081,2	Hela-S3	cervix:
46	chr21:48044131..48047004-chr21:48048003..48050751,2	MCF-7	breast:
47	chr21:48066275..48067897-chr21:48072092..48074993,2	MCF-7	breast:
48	chr21:48054348..48057362-chr21:48062068..48064635,4	K562	blood:
49	chr21:48043420..48045155-chr21:48055192..48058063,2	K562	blood:
50	chr21:48054348..48057362-chr21:48062068..48064635,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-S100B-1	chr21:48073470-48073934	NONHSAT083076
2	lnc-DIP2A-5	chr21:48055527-48055675	NONHSAT083074

No data

Variant related genes	Relation type
DSTNP1	TF binding region
PRMT2	TF binding region
S100B	TF binding region
DSTNP1	CpG island
PRMT2	CpG island
S100B	CpG island
ENSG00000272283	chromatin interactions
ENSG00000105699	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000261771	chromatin interactions
ENSG00000160299	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000263583	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000265692	chromatin interactions
ENSG00000230982	chromatin interactions
ENSG00000109790	chromatin interactions
ENSG00000247077	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000214706	chromatin interactions
ENSG00000126070	chromatin interactions
ENSG00000196352	chromatin interactions
ENSG00000164330	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000202239	chromatin interactions
ENSG00000160305	chromatin interactions
ENSG00000232065	chromatin interactions
ENSG00000160307	chromatin interactions
ENSG00000109046	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000231473	chromatin interactions
ENSG00000118873	chromatin interactions
ENSG00000139687	chromatin interactions
ENSG00000204054	chromatin interactions
ENSG00000256061	chromatin interactions
ENSG00000160285	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000160310	chromatin interactions
ENSG00000129657	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000197153	chromatin interactions

Extended variants
information (count: 2399 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:2399 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548028411	chr21:48021831-48021832	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576656631	chr21:48021860-48021861	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181407331	chr21:48021878-48021879	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368174663	chr21:48021905-48021906	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs187501203	chr21:48021921-48021922	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs545566019	chr21:48021924-48021925	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs146339780	chr21:48021941-48021942	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs34722617	chr21:48021967-48021968	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs191792000	chr21:48021980-48021981	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2839355	chr21:48022033-48022034	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139572774	chr21:48022048-48022049	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182879640	chr21:48022100-48022101	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs2839356	chr21:48022144-48022145	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs80199493	chr21:48022175-48022176	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1051169	chr21:48022230-48022231	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs564547722	chr21:48022236-48022237	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376799186	chr21:48022261-48022262	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11542309	chr21:48022284-48022285	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368589237	chr21:48022290-48022291	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563644968	chr21:48022294-48022295	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558674156	chr21:48022299-48022300	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372056269	chr21:48022303-48022304	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375166815	chr21:48022307-48022308	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111577365	chr21:48022332-48022333	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575081669	chr21:48022336-48022337	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369392316	chr21:48022339-48022340	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs185912351	chr21:48022340-48022341	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs190425982	chr21:48022342-48022343	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375156323	chr21:48022354-48022355	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2186358	chr21:48022375-48022376	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs528218248	chr21:48022381-48022382	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs368663156	chr21:48022388-48022389	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546748019	chr21:48022391-48022392	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559971319	chr21:48022406-48022407	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs28559645	chr21:48022412-48022413	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551783543	chr21:48022424-48022425	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs570333000	chr21:48022432-48022433	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs570372433	chr21:48022471-48022472	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530777956	chr21:48022482-48022483	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs11911834	chr21:48022521-48022522	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs77333632	chr21:48022526-48022527	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs534776675	chr21:48022536-48022537	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs553090366	chr21:48022546-48022547	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs377595047	chr21:48022558-48022559	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs35274535	chr21:48022619-48022620	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571103467	chr21:48022675-48022676	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs28446864	chr21:48022689-48022690	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs371782315	chr21:48022760-48022761	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs556937496	chr21:48022823-48022824	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs9984699	chr21:48022830-48022831	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:2305 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:48018000-48022200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr21:48018000-48024600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:48018000-48025000	Weak transcription	Spleen	Spleen
4	chr21:48018600-48022200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr21:48018600-48022600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
6	chr21:48018600-48022800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:48018600-48023200	Enhancers	K562	blood
8	chr21:48018800-48024600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr21:48019200-48022200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr21:48019200-48024400	Weak transcription	Right Atrium	heart
11	chr21:48019400-48022200	Weak transcription	Placenta	Placenta
12	chr21:48019400-48022600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:48019400-48022600	Weak transcription	Fetal Stomach	stomach
14	chr21:48019400-48023800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr21:48019400-48024400	Weak transcription	Fetal Thymus	thymus
16	chr21:48019400-48024800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:48019400-48024800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:48019600-48022400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:48019600-48024600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr21:48019800-48022600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr21:48019800-48022600	Weak transcription	HSMMtube	muscle
22	chr21:48019800-48024600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr21:48019800-48024800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr21:48019800-48025000	Weak transcription	Fetal Brain Male	brain
25	chr21:48019800-48025800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:48020000-48023800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr21:48020000-48024400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:48020000-48024800	Weak transcription	Osteobl	bone
29	chr21:48020200-48023400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr21:48020400-48024000	Weak transcription	Primary T cells from cord blood	blood
31	chr21:48020600-48024400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr21:48020800-48021800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr21:48020800-48022000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr21:48020800-48022200	Enhancers	Gastric	stomach
35	chr21:48020800-48022600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr21:48020800-48022800	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
37	chr21:48020800-48022800	Enhancers	Stomach Mucosa	stomach
38	chr21:48021000-48022600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:48021000-48022600	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
40	chr21:48021000-48022800	Enhancers	Ovary	ovary
41	chr21:48021200-48021800	Genic enhancers	Brain Anterior Caudate	brain
42	chr21:48021200-48022200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr21:48021200-48022200	Weak transcription	Fetal Muscle Leg	muscle
44	chr21:48021200-48022800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr21:48021200-48024400	Weak transcription	Adipose Nuclei	Adipose
46	chr21:48021200-48024600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr21:48021400-48022000	Enhancers	Brain Angular Gyrus	brain
48	chr21:48021400-48022400	Enhancers	Pancreas	Pancrea
49	chr21:48021400-48022600	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr21:48021400-48022800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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