Variant report

Variant	nsv914130
Chromosome Location	chr21:47572244-47591770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:542)
CpG islands
(count:855)
Chromatin interactive
region (count:42)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:47573288-47573602	K562	blood:	n/a	n/a
2	ARID3A	chr21:47573265-47573639	HepG2	liver:	n/a	n/a
3	ATF3	chr21:47580131-47580292	K562	blood:	n/a	n/a
4	BACH1	chr21:47573382-47573595	K562	blood:	n/a	n/a
5	BACH1	chr21:47573191-47573764	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr21:47576732-47576839	K562	blood:	n/a	n/a
7	BHLHE40	chr21:47573220-47573997	HepG2	liver:	n/a	n/a
8	BHLHE40	chr21:47573243-47573469	GM12878	blood:	n/a	n/a
9	BHLHE40	chr21:47572865-47573684	K562	blood:	n/a	n/a
10	BHLHE40	chr21:47575894-47576061	K562	blood:	n/a	n/a
11	BHLHE40	chr21:47575822-47576112	HepG2	liver:	n/a	n/a
12	BHLHE40	chr21:47575325-47576387	HepG2	liver:	n/a	chr21:47575500-47575516
13	BRCA1	chr21:47573250-47573361	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr21:47573104-47573617	K562	blood:	n/a	n/a
15	CBX3	chr21:47580626-47580924	K562	blood:	n/a	n/a
16	CBX3	chr21:47573188-47573536	K562	blood:	n/a	n/a
17	CBX3	chr21:47576615-47576991	K562	blood:	n/a	n/a
18	CCNT2	chr21:47581197-47581452	K562	blood:	n/a	n/a
19	CCNT2	chr21:47572868-47574278	K562	blood:	n/a	chr21:47573366-47573375 chr21:47573373-47573382 chr21:47573798-47573807
20	CCNT2	chr21:47574570-47574770	K562	blood:	n/a	chr21:47574633-47574642 chr21:47574595-47574604
21	CEBPB	chr21:47573515-47573739	HepG2	liver:	n/a	n/a
22	CEBPB	chr21:47573277-47573625	K562	blood:	n/a	n/a
23	CEBPB	chr21:47573190-47573408	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr21:47584218-47584328	HepG2	liver:	n/a	n/a
25	CEBPD	chr21:47575174-47576000	HepG2	liver:	n/a	n/a
26	CEBPD	chr21:47573542-47573845	HepG2	liver:	n/a	n/a
27	CEBPD	chr21:47575295-47575664	HepG2	liver:	n/a	n/a
28	CHD2	chr21:47575261-47575753	HepG2	liver:	n/a	n/a
29	CHD2	chr21:47573082-47573444	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr21:47576017-47576177	HepG2	liver:	n/a	n/a
31	CHD2	chr21:47573295-47573787	HepG2	liver:	n/a	n/a
32	CHD2	chr21:47573715-47573720	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr21:47573155-47573950	K562	blood:	n/a	chr21:47573798-47573808
34	CHD2	chr21:47573202-47573491	GM12878	blood:	n/a	n/a
35	CHD2	chr21:47574042-47574196	HepG2	liver:	n/a	n/a
36	CHD2	chr21:47574491-47574651	HepG2	liver:	n/a	n/a
37	CHD2	chr21:47576766-47576783	K562	blood:	n/a	n/a
38	CHD2	chr21:47573176-47573443	Hela-S3	cervix:	n/a	n/a
39	CTBP2	chr21:47572715-47573618	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr21:47573260-47573410	AG04449	skin:	n/a	chr21:47573330-47573346 chr21:47573329-47573347 chr21:47573331-47573352
41	CTCF	chr21:47573280-47573430	Caco-2	colon:	n/a	chr21:47573330-47573346 chr21:47573329-47573347 chr21:47573331-47573352
42	CTCF	chr21:47573230-47573433	HepG2	liver:	n/a	chr21:47573330-47573346 chr21:47573329-47573347 chr21:47573331-47573352
43	CTCF	chr21:47573260-47573410	NHDF-neo	bronchial:	n/a	chr21:47573330-47573346 chr21:47573329-47573347 chr21:47573331-47573352
44	CTCF	chr21:47573240-47573390	GM12870	blood:	n/a	chr21:47573330-47573346 chr21:47573329-47573347 chr21:47573331-47573352
45	CTCF	chr21:47573231-47573426	T-47D	breast:	n/a	chr21:47573330-47573346 chr21:47573329-47573347 chr21:47573331-47573352
46	CTCF	chr21:47573260-47573410	HPF	lung:	n/a	chr21:47573330-47573346 chr21:47573329-47573347 chr21:47573331-47573352
47	CTCF	chr21:47576029-47576091	Fibrobl	skin:	n/a	n/a
48	CTCF	chr21:47573190-47573489	MCF-7	breast:	n/a	chr21:47573330-47573346 chr21:47573329-47573347 chr21:47573331-47573352
49	CTCF	chr21:47580960-47581110	AG04449	skin:	n/a	n/a
50	CTCF	chr21:47572323-47572382	GM19239	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:47582049-47582099	SK-N-MC	brain:	n/a
2	chr21:47582049-47582099	SK-N-MC	brain:	n/a
3	chr21:47582049-47582099	NT2-D1	testis:	n/a
4	chr21:47575498-47575548	MCF-7	breast:	n/a
5	chr21:47576844-47576894	GM06990	blood:	n/a
6	chr21:47575416-47575466	NB4	blood:	n/a
7	chr21:47581405-47581455	RPTEC	kidney:	n/a
8	chr21:47580410-47580460	BE2_C	brain:	n/a
9	chr21:47576844-47576894	AG09309	skin:	n/a
10	chr21:47581558-47581608	HMEC	breast:	n/a
11	chr21:47576844-47576894	HRE	kidney:	n/a
12	chr21:47580738-47580788	PFSK-1	brain:	n/a
13	chr21:47576844-47576894	HCM	heart:	n/a
14	chr21:47585850-47585900	GM12878	blood:	n/a
15	chr21:47575504-47575554	HL-60	blood:	n/a
16	chr21:47575134-47575184	GM19239	blood:	n/a
17	chr21:47575134-47575184	AG04449	skin:	fetal
18	chr21:47575416-47575466	H1-hESC	embryonic stem cell:	embryo
19	chr21:47580410-47580460	HCF	heart:	n/a
20	chr21:47575134-47575184	NB4	blood:	n/a
21	chr21:47581042-47581092	Jurkat	blood:	n/a
22	chr21:47582049-47582099	LNCaP	prostate:	n/a
23	chr21:47575416-47575466	HRCEpiC	kidney:	n/a
24	chr21:47582049-47582099	GM12891	blood:	n/a
25	chr21:47576844-47576894	HIPEpiC	eye:	n/a
26	chr21:47575416-47575466	SK-N-SH_RA	brain:	n/a
27	chr21:47575504-47575554	SAEC	small airway:	n/a
28	chr21:47580738-47580788	HL-60	blood:	n/a
29	chr21:47576844-47576894	NHDF-neo	bronchial:	n/a
30	chr21:47575547-47575597	BJ	skin:	n/a
31	chr21:47582049-47582099	PANC-1	pancreas:	n/a
32	chr21:47582351-47582401	HUVEC	blood vessel:	n/a
33	chr21:47585850-47585900	HRPEpiC	eye:	n/a
34	chr21:47576844-47576894	ovcar-3	ovarian:	n/a
35	chr21:47581042-47581092	PANC-1	pancreas:	n/a
36	chr21:47580410-47580460	NT2-D1	testis:	n/a
37	chr21:47580738-47580788	HRE	kidney:	n/a
38	chr21:47575498-47575548	BJ	skin:	n/a
39	chr21:47575504-47575554	BE2_C	brain:	n/a
40	chr21:47581558-47581608	AG09309	skin:	n/a
41	chr21:47581042-47581092	SK-N-SH	brain:	n/a
42	chr21:47582351-47582401	A549	lung:	n/a
43	chr21:47575134-47575184	BJ	skin:	n/a
44	chr21:47575134-47575184	HEEpiC	esophagus:	n/a
45	chr21:47575498-47575548	A549	lung:	n/a
46	chr21:47576844-47576894	NHBE	bronchial:	n/a
47	chr21:47580410-47580460	HAEpiC	amniotic membrane:	n/a
48	chr21:47581558-47581608	H1-hESC	embryonic stem cell:	embryo
49	chr21:47581405-47581455	AoSMC	blood vessel:	n/a
50	chr21:47575547-47575597	GM12878	blood:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47583504..47585135-chr21:47586773..47588426,2	K562	blood:
2	chr21:47573104..47575985-chr21:47579204..47581250,2	MCF-7	breast:
3	chr21:47591492..47594026-chr21:47596355..47598597,2	K562	blood:
4	chr21:47573404..47575151-chr21:47604285..47605911,2	K562	blood:
5	chr21:47578648..47581560-chr21:47583837..47585987,2	MCF-7	breast:
6	chr21:47571793..47574970-chr21:47606794..47610224,4	MCF-7	breast:
7	chr21:47579366..47583740-chr21:47600501..47605706,6	K562	blood:
8	chr21:47572811..47573674-chr21:47629810..47630678,4	MCF-7	breast:
9	chr21:47591191..47593431-chr21:47599705..47602062,3	MCF-7	breast:
10	chr21:47571809..47573470-chr21:47577940..47580540,3	K562	blood:
11	chr21:47571733..47573390-chr21:47601169..47604058,2	K562	blood:
12	chr21:47564736..47567085-chr21:47578080..47580146,2	K562	blood:
13	chr21:47576419..47578901-chr21:47603697..47606683,2	K562	blood:
14	chr21:47572801..47575123-chr21:47608249..47610070,2	MCF-7	breast:
15	chr21:47587472..47590076-chr21:47646984..47649833,2	MCF-7	breast:
16	chr21:47569776..47574608-chr21:47647325..47651354,5	K562	blood:
17	chr21:47578880..47581848-chr21:47584809..47588383,3	K562	blood:
18	chr21:47580435..47582947-chr21:47589052..47590591,2	K562	blood:
19	chr21:47578648..47581560-chr21:47583837..47585987,2	MCF-7	breast:
20	chr21:47579366..47581441-chr21:47603875..47605706,3	K562	blood:
21	chr21:47584368..47587107-chr21:47598667..47601448,3	MCF-7	breast:
22	chr21:47572328..47575443-chr21:47578503..47583188,4	MCF-7	breast:
23	chr21:47578880..47581848-chr21:47584809..47588383,3	K562	blood:
24	chr21:47540169..47542673-chr21:47591421..47593527,2	MCF-7	breast:
25	chr21:47565931..47567965-chr21:47573365..47574970,2	K562	blood:
26	chr21:47580435..47582947-chr21:47589052..47590591,2	K562	blood:
27	chr21:47571809..47573470-chr21:47577940..47580540,3	K562	blood:
28	chr21:47583504..47585135-chr21:47586773..47588426,2	K562	blood:
29	chr21:47575923..47577951-chr21:47583383..47585806,2	K562	blood:
30	chr21:47579510..47581260-chr21:47592233..47594320,2	K562	blood:
31	chr21:47571215..47574863-chr21:47704385..47707059,3	MCF-7	breast:
32	chr21:47575923..47577951-chr21:47583383..47585806,2	K562	blood:
33	chr21:47572189..47573895-chr21:47587183..47588702,2	K562	blood:
34	chr21:47572189..47573895-chr21:47587183..47588702,2	K562	blood:
35	chr21:47572060..47573933-chr21:47704576..47706240,2	MCF-7	breast:
36	chr21:47572242..47575458-chr21:47578361..47583454,7	K562	blood:
37	chr21:47572328..47575443-chr21:47578503..47583188,4	MCF-7	breast:
38	chr15:87417928..87418618-chr21:47573271..47573823,2	MCF-7	breast:
39	chr21:47563777..47566243-chr21:47580677..47583007,2	K562	blood:
40	chr21:47573565..47576139-chr21:47579614..47582261,4	K562	blood:
41	chr21:47572242..47575458-chr21:47578361..47583454,7	K562	blood:
42	chr21:47588823..47590462-chr21:47601081..47603080,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL6A2-1	chr21:47572208-47572561	ENSG00000237338.1

No data

Variant related genes	Relation type
FTCD	TF binding region
FTCD	CpG island
ENSG00000142173	chromatin interactions
ENSG00000215424	chromatin interactions
ENSG00000182362	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000160282	chromatin interactions
ENSG00000160284	chromatin interactions
ENSG00000228404	chromatin interactions
ENSG00000160285	chromatin interactions

Extended variants
information (count: 1158 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:1158 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4819208	chr21:47572244-47572245	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556549038	chr21:47572252-47572253	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs79140790	chr21:47572256-47572257	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs542592173	chr21:47572263-47572264	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs139011573	chr21:47572277-47572278	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs527922745	chr21:47572295-47572296	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs143973279	chr21:47572296-47572297	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs529650886	chr21:47572310-47572311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
9	rs530020023	chr21:47572311-47572312	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
10	rs563855168	chr21:47572324-47572325	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
11	rs369286011	chr21:47572333-47572334	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
12	rs567757543	chr21:47572355-47572356	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
13	rs146457763	chr21:47572358-47572359	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
14	rs547314598	chr21:47572362-47572363	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
15	rs565621004	chr21:47572367-47572368	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs372447006	chr21:47572381-47572382	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
17	rs557905768	chr21:47572382-47572383	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
18	rs570028883	chr21:47572400-47572401	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
19	rs372920572	chr21:47572401-47572402	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
20	rs538295157	chr21:47572426-47572427	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
21	rs115280001	chr21:47572445-47572446	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
22	rs574916192	chr21:47572451-47572452	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
23	rs146723990	chr21:47572460-47572461	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
24	rs566493264	chr21:47572470-47572471	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
25	rs73144704	chr21:47572487-47572488	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189299732	chr21:47572507-47572508	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
27	rs564663356	chr21:47572591-47572592	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs569090586	chr21:47572637-47572638	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs377172133	chr21:47572648-47572649	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs180884892	chr21:47572655-47572656	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs528889849	chr21:47572669-47572670	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs538112661	chr21:47572681-47572682	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs554903824	chr21:47572769-47572770	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs375759812	chr21:47572784-47572785	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs565659382	chr21:47572785-47572786	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs148912494	chr21:47572793-47572794	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs551294415	chr21:47572802-47572803	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs373011848	chr21:47572803-47572804	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs376158852	chr21:47572805-47572806	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs536824564	chr21:47572814-47572815	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs369161630	chr21:47572828-47572829	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs568533281	chr21:47572852-47572853	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs373447719	chr21:47572867-47572868	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs377359525	chr21:47572869-47572870	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs61735836	chr21:47572887-47572888	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs374097903	chr21:47572892-47572893	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs376899030	chr21:47572893-47572894	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs371214676	chr21:47572894-47572895	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs201214397	chr21:47572902-47572903	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs572661766	chr21:47572903-47572904	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	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:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47562600-47580600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr21:47564000-47572800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr21:47564000-47573000	Weak transcription	Brain Anterior Caudate	brain
4	chr21:47564000-47573000	Weak transcription	Stomach Mucosa	stomach
5	chr21:47564200-47572600	Weak transcription	Spleen	Spleen
6	chr21:47564200-47572800	Weak transcription	Right Atrium	heart
7	chr21:47564200-47573000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr21:47564200-47573000	Weak transcription	Fetal Lung	lung
9	chr21:47564800-47575200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr21:47567400-47573000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr21:47567400-47573600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr21:47568400-47572600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:47569400-47572800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:47569800-47572800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:47570200-47572800	Genic enhancers	Liver	Liver
16	chr21:47570400-47573200	Weak transcription	Brain Substantia Nigra	brain
17	chr21:47570600-47572800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:47570800-47573000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr21:47570800-47573000	Enhancers	Fetal Muscle Trunk	muscle
20	chr21:47571000-47573000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr21:47571000-47574600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:47571200-47572800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr21:47571200-47574200	Enhancers	H1 Cell Line	embryonic stem cell
24	chr21:47571400-47573000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr21:47571600-47572600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr21:47571600-47572800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr21:47571800-47572800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr21:47572000-47572800	Enhancers	Ovary	ovary
29	chr21:47572000-47572800	Genic enhancers	HepG2	liver
30	chr21:47572000-47573800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr21:47572200-47572600	Weak transcription	Fetal Intestine Large	intestine
32	chr21:47572200-47572800	Enhancers	Fetal Intestine Small	intestine
33	chr21:47572200-47572800	Enhancers	K562	blood
34	chr21:47572200-47573000	Bivalent Enhancer	Fetal Stomach	stomach
35	chr21:47572200-47573000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr21:47572200-47573800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:47572200-47573800	Enhancers	HSMMtube	muscle
38	chr21:47572200-47574000	Enhancers	Fetal Muscle Leg	muscle
39	chr21:47572200-47574200	Enhancers	Fetal Heart	heart
40	chr21:47572400-47573400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
41	chr21:47572600-47572800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr21:47572600-47572800	Enhancers	Fetal Intestine Large	intestine
43	chr21:47572600-47573000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr21:47572600-47573000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr21:47572600-47573000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr21:47572600-47573000	Bivalent Enhancer	NHEK	skin
47	chr21:47572600-47573400	Enhancers	Pancreas	Pancrea
48	chr21:47572600-47573600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr21:47572600-47573600	Enhancers	Spleen	Spleen
50	chr21:47572600-47573800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links