Variant report

Variant	nsv1020251
Chromosome Location	chr7:6309528-6379941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1410)
CpG islands
(count:977)
Chromatin interactive
region (count:38)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1410 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:6310929-6311260	K562	blood:	n/a	n/a
2	ARID3A	chr7:6346192-6346528	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:6318463-6318530	K562	blood:	n/a	n/a
4	ARID3A	chr7:6344971-6345277	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:6310412-6310591	K562	blood:	n/a	n/a
6	ARID3A	chr7:6324006-6324164	K562	blood:	n/a	n/a
7	ATF3	chr7:6346092-6346549	A549	lung:	n/a	n/a
8	ATF3	chr7:6323714-6324221	A549	lung:	n/a	n/a
9	ATF3	chr7:6312135-6312427	K562	blood:	n/a	chr7:6312296-6312316 chr7:6312307-6312327 chr7:6312307-6312316
10	ATF3	chr7:6312205-6312533	GM12878	blood:	n/a	chr7:6312296-6312316 chr7:6312307-6312327 chr7:6312307-6312316
11	ATF3	chr7:6312194-6312404	GM12878	blood:	n/a	chr7:6312296-6312316 chr7:6312307-6312327 chr7:6312307-6312316
12	ATF3	chr7:6312145-6312488	H1-hESC	embryonic stem cell:	n/a	chr7:6312296-6312316 chr7:6312307-6312327 chr7:6312307-6312316
13	ATF3	chr7:6312133-6312463	HepG2	liver:	n/a	chr7:6312296-6312316 chr7:6312307-6312327 chr7:6312307-6312316
14	BACH1	chr7:6310720-6311488	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr7:6310912-6311286	K562	blood:	n/a	n/a
16	BACH1	chr7:6330073-6330536	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr7:6312351-6312578	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr7:6347450-6347752	GM12878	blood:	n/a	chr7:6347647-6347658
19	BATF	chr7:6334432-6334702	GM12878	blood:	n/a	n/a
20	BATF	chr7:6347459-6347835	GM12878	blood:	n/a	chr7:6347647-6347658
21	BCL3	chr7:6312217-6312944	A549	lung:	n/a	chr7:6312356-6312369
22	BCL3	chr7:6323953-6324836	A549	lung:	n/a	n/a
23	BCL3	chr7:6345671-6346516	A549	lung:	n/a	n/a
24	BCL3	chr7:6371973-6372304	GM12878	blood:	n/a	n/a
25	BCL3	chr7:6344849-6345368	A549	lung:	n/a	n/a
26	BCL3	chr7:6323648-6324414	A549	lung:	n/a	n/a
27	BCL3	chr7:6322477-6323904	A549	lung:	n/a	n/a
28	BCL3	chr7:6344781-6345472	A549	lung:	n/a	n/a
29	BCL3	chr7:6324403-6324710	GM12878	blood:	n/a	n/a
30	BCL3	chr7:6322862-6323362	A549	lung:	n/a	n/a
31	BCL3	chr7:6324454-6324761	GM12878	blood:	n/a	n/a
32	BCL3	chr7:6345936-6346560	A549	lung:	n/a	n/a
33	BCLAF1	chr7:6362508-6363008	GM12878	blood:	n/a	n/a
34	BCLAF1	chr7:6312075-6312616	GM12878	blood:	n/a	chr7:6312356-6312369
35	BHLHE40	chr7:6345109-6345497	HepG2	liver:	n/a	n/a
36	BHLHE40	chr7:6357510-6357923	HepG2	liver:	n/a	n/a
37	BHLHE40	chr7:6322698-6322898	A549	lung:	n/a	n/a
38	BHLHE40	chr7:6312134-6312889	GM12878	blood:	n/a	chr7:6312306-6312315 chr7:6312307-6312316 chr7:6312308-6312317 chr7:6312301-6312322 chr7:6312307-6312316 chr7:6312305-6312318
39	BHLHE40	chr7:6311032-6311748	K562	blood:	n/a	n/a
40	BHLHE40	chr7:6312364-6312715	A549	lung:	n/a	n/a
41	BHLHE40	chr7:6312121-6312740	HepG2	liver:	n/a	chr7:6312306-6312315 chr7:6312307-6312316 chr7:6312308-6312317 chr7:6312301-6312322 chr7:6312307-6312316 chr7:6312305-6312318
42	BHLHE40	chr7:6311594-6311719	GM12878	blood:	n/a	n/a
43	BHLHE40	chr7:6312121-6312920	K562	blood:	n/a	chr7:6312306-6312315 chr7:6312307-6312316 chr7:6312308-6312317 chr7:6312301-6312322 chr7:6312307-6312316 chr7:6312305-6312318
44	BHLHE40	chr7:6357599-6357867	HepG2	liver:	n/a	n/a
45	BHLHE40	chr7:6357557-6357862	K562	blood:	n/a	n/a
46	BHLHE40	chr7:6362651-6362951	K562	blood:	n/a	n/a
47	BRCA1	chr7:6312998-6313168	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr7:6346064-6346592	Hela-S3	cervix:	n/a	n/a
49	CBX3	chr7:6355868-6356153	K562	blood:	n/a	n/a
50	CBX3	chr7:6318357-6318824	K562	blood:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6370316-6370366	PANC-1	pancreas:	n/a
2	chr7:6370316-6370366	PANC-1	pancreas:	n/a
3	chr7:6312054-6312104	Hela-S3	cervix:	n/a
4	chr7:6312054-6312104	HCT-116	colon:	n/a
5	chr7:6370717-6370767	HCT-116	colon:	n/a
6	chr7:6312525-6312575	HepG2	liver:	n/a
7	chr7:6369837-6369887	HRE	kidney:	n/a
8	chr7:6311412-6311462	NH-A	brain:	n/a
9	chr7:6370717-6370767	GM12878	blood:	n/a
10	chr7:6310773-6310823	LNCaP	prostate:	n/a
11	chr7:6313050-6313100	HMEC	breast:	n/a
12	chr7:6311412-6311462	Caco-2	colon:	n/a
13	chr7:6313050-6313100	GM12892	blood:	n/a
14	chr7:6312441-6312491	ECC-1	luminal epithelium:	n/a
15	chr7:6313050-6313100	AG04449	skin:	fetal
16	chr7:6312217-6312267	NB4	blood:	n/a
17	chr7:6311412-6311462	GM06990	blood:	n/a
18	chr7:6310290-6310340	Jurkat	blood:	n/a
19	chr7:6312471-6312521	BE2_C	brain:	n/a
20	chr7:6310773-6310823	GM19239	blood:	n/a
21	chr7:6370185-6370235	BJ	skin:	n/a
22	chr7:6312054-6312104	HRPEpiC	eye:	n/a
23	chr7:6370368-6370418	NH-A	brain:	n/a
24	chr7:6312525-6312575	K562	blood:	n/a
25	chr7:6313050-6313100	IMR90	lung:	fetal
26	chr7:6310773-6310823	HUVEC	blood vessel:	n/a
27	chr7:6370185-6370235	U87	brain:	n/a
28	chr7:6370185-6370235	GM06990	blood:	n/a
29	chr7:6369837-6369887	NH-A	brain:	n/a
30	chr7:6370368-6370418	SAEC	small airway:	n/a
31	chr7:6312217-6312267	ProgFib	skin:	n/a
32	chr7:6310290-6310340	HUVEC	blood vessel:	n/a
33	chr7:6312471-6312521	HRE	kidney:	n/a
34	chr7:6312054-6312104	IMR90	lung:	fetal
35	chr7:6370316-6370366	HEEpiC	esophagus:	n/a
36	chr7:6369837-6369887	PFSK-1	brain:	n/a
37	chr7:6370717-6370767	GM19239	blood:	n/a
38	chr7:6370717-6370767	AG04450	lung:	fetal
39	chr7:6310290-6310340	PFSK-1	brain:	n/a
40	chr7:6312525-6312575	HCPEpiC	choroid plexus:	n/a
41	chr7:6369837-6369887	AG04449	skin:	fetal
42	chr7:6313058-6313108	GM12878	blood:	n/a
43	chr7:6312441-6312491	ovcar-3	ovarian:	n/a
44	chr7:6311412-6311462	IMR90	lung:	fetal
45	chr7:6313050-6313100	AG09319	gingival:	n/a
46	chr7:6370316-6370366	HepG2	liver:	n/a
47	chr7:6311412-6311462	NT2-D1	testis:	n/a
48	chr7:6311412-6311462	SK-N-SH	brain:	n/a
49	chr7:6315828-6315878	SK-N-SH_RA	brain:	n/a
50	chr7:6369837-6369887	Hepatocyte	liver:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6362326..6363972-chr7:6370986..6373639,2	MCF-7	breast:
2	chr7:6304552..6306411-chr7:6307990..6310945,2	MCF-7	breast:
3	chr7:6310562..6312865-chr7:6314382..6316980,2	MCF-7	breast:
4	chr7:6200618..6201665-chr7:6361362..6362302,3	K562	blood:
5	chr7:6199558..6200447-chr7:6362313..6363284,3	MCF-7	breast:
6	chr7:6362326..6363972-chr7:6370986..6373639,2	MCF-7	breast:
7	chr7:6320860..6323192-chr7:6343714..6347406,3	MCF-7	breast:
8	chr7:6295381..6296000-chr7:6362330..6363265,2	MCF-7	breast:
9	chr7:6214344..6218044-chr7:6310010..6312416,3	MCF-7	breast:
10	chr7:6036973..6037538-chr7:6362378..6363229,3	K562	blood:
11	chr7:6307201..6310228-chr7:6310974..6314712,4	MCF-7	breast:
12	chr7:6312108..6314425-chr7:6321484..6323266,2	K562	blood:
13	chr7:6035426..6037082-chr7:6372151..6373884,2	MCF-7	breast:
14	chr7:6307491..6309134-chr7:6317243..6319734,2	K562	blood:
15	chr7:6310725..6312409-chr7:6412991..6414709,2	K562	blood:
16	chr7:6199039..6200525-chr7:6362284..6363316,17	MCF-7	breast:
17	chr7:6320860..6323192-chr7:6343714..6347406,3	MCF-7	breast:
18	chr7:6310796..6312409-chr7:6348084..6350532,2	K562	blood:
19	chr7:6346440..6348361-chr7:6354558..6357169,2	K562	blood:
20	chr7:6206063..6207710-chr7:6310368..6312250,2	MCF-7	breast:
21	chr7:6311610..6313550-chr7:6322555..6325046,2	MCF-7	breast:
22	chr7:6217036..6219726-chr7:6310745..6313246,2	K562	blood:
23	chr7:6310552..6312369-chr7:6355817..6357966,2	K562	blood:
24	chr7:6346440..6348361-chr7:6354558..6357169,2	K562	blood:
25	chr7:6364887..6367442-chr7:6388475..6390006,2	K562	blood:
26	chr7:6035383..6037045-chr7:6343734..6346245,2	MCF-7	breast:
27	chr7:6311447..6314640-chr7:6315943..6318631,5	K562	blood:
28	chr7:6293639..6295897-chr7:6307498..6309548,2	MCF-7	breast:
29	chr7:6311538..6313879-chr7:6330214..6331900,2	MCF-7	breast:
30	chr7:6310704..6313197-chr7:6323123..6325824,2	MCF-7	breast:
31	chr7:6143046..6145933-chr7:6364932..6367512,2	K562	blood:
32	chr7:6195894..6198040-chr7:6361741..6363493,2	MCF-7	breast:
33	chr7:6295108..6297565-chr7:6362435..6365344,2	MCF-7	breast:
34	chr7:6377795..6380161-chr7:6386976..6388780,2	MCF-7	breast:
35	chr7:6379408..6381446-chr7:6384710..6386481,2	MCF-7	breast:
36	chr7:6362339..6362861-chr7:6969838..6970665,2	K562	blood:
37	chr7:6143403..6145262-chr7:6310829..6313708,2	MCF-7	breast:
38	chr7:6310402..6314489-chr7:6314854..6318602,7	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAC1-2	chr7:6370213-6370871	NONHSAT118994
2	lnc-CYTH3-2	chr7:6336984-6337416	NONHSAT118993
3	lnc-RAC1-2	chr7:6369092-6369444	NONHSAT118994

No data

Variant related genes	Relation type
FAM220A	TF binding region
CYTH3	TF binding region
FAM220A	CpG island
CYTH3	CpG island
ENSG00000136238	chromatin interactions
ENSG00000106346	chromatin interactions
ENSG00000238534	chromatin interactions
ENSG00000008256	chromatin interactions
ENSG00000178397	chromatin interactions

Extended variants
information (count: 3628 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:3628 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376162858	chr7:6309544-6309545	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs563143021	chr7:6309617-6309618	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185897679	chr7:6309688-6309689	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs889963	chr7:6309749-6309750	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560601305	chr7:6309786-6309787	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527702100	chr7:6309826-6309827	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs141751629	chr7:6309855-6309856	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147216197	chr7:6309861-6309862	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534916036	chr7:6309935-6309936	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs553147683	chr7:6309966-6309967	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs549995467	chr7:6309968-6309969	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569078502	chr7:6309991-6309992	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536034583	chr7:6309995-6309996	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10262810	chr7:6310005-6310006	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573028682	chr7:6310022-6310023	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs533776027	chr7:6310032-6310033	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs558549786	chr7:6310037-6310038	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs576899619	chr7:6310043-6310044	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs140656433	chr7:6310097-6310098	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs562422371	chr7:6310140-6310141	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs6463541	chr7:6310274-6310275	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs373334142	chr7:6310291-6310292	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs542024047	chr7:6310295-6310296	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs560861365	chr7:6310339-6310340	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs201738204	chr7:6310341-6310342	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs527931164	chr7:6310349-6310350	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545801029	chr7:6310363-6310364	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs6463542	chr7:6310377-6310378	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190767993	chr7:6310469-6310470	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs550274662	chr7:6310471-6310472	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs183003328	chr7:6310501-6310502	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs529924300	chr7:6310525-6310526	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs142893300	chr7:6310533-6310534	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs186938542	chr7:6310534-6310535	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs566783471	chr7:6310549-6310550	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs386709814	chr7:6310568-6310569	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs6976305	chr7:6310569-6310570	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs71549618	chr7:6310578-6310579	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs537428706	chr7:6310600-6310601	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs873017	chr7:6310626-6310627	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs575116153	chr7:6310636-6310637	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs555838275	chr7:6310641-6310642	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542410838	chr7:6310653-6310654	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs6463543	chr7:6310659-6310660	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs5882086	chr7:6310731-6310732	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs34435155	chr7:6310732-6310733	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs146347805	chr7:6310735-6310736	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs3030436	chr7:6310738-6310739	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs190208682	chr7:6310739-6310740	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs546133616	chr7:6310762-6310763	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
early-passage human iPS cells	21368824	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1668 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6288200-6310400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:6299000-6310400	Weak transcription	Primary B cells from cord blood	blood
3	chr7:6299200-6310600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:6300200-6310200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:6300400-6310400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:6300600-6310200	Weak transcription	Fetal Kidney	kidney
7	chr7:6300600-6310400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:6301200-6310400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:6301200-6310400	Weak transcription	Colonic Mucosa	Colon
10	chr7:6302000-6310200	Weak transcription	NH-A	brain
11	chr7:6302400-6310400	Weak transcription	Fetal Stomach	stomach
12	chr7:6302600-6310200	Weak transcription	Osteobl	bone
13	chr7:6304800-6310400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:6306800-6310400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:6306800-6310400	Enhancers	Fetal Intestine Small	intestine
16	chr7:6306800-6310600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:6307000-6310400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:6308000-6310400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:6308200-6309800	Enhancers	Stomach Mucosa	stomach
20	chr7:6308200-6310200	Enhancers	K562	blood
21	chr7:6308200-6310400	Enhancers	Fetal Heart	heart
22	chr7:6308200-6310400	Enhancers	A549	lung
23	chr7:6308400-6309600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr7:6308400-6309800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr7:6308400-6310400	Enhancers	Fetal Intestine Large	intestine
26	chr7:6308400-6310400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:6308400-6310600	Active TSS	GM12878-XiMat	blood
28	chr7:6308600-6309600	Enhancers	Adipose Nuclei	Adipose
29	chr7:6308600-6309600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr7:6308600-6310200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:6308600-6310200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:6308800-6309600	Enhancers	Brain Substantia Nigra	brain
33	chr7:6308800-6309600	Flanking Active TSS	HSMMtube	muscle
34	chr7:6308800-6310200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:6308800-6310200	Enhancers	HSMM	muscle
36	chr7:6308800-6310400	Weak transcription	Hela-S3	cervix
37	chr7:6308800-6310600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:6309000-6310200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:6309000-6310200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:6309000-6310200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:6309000-6310400	Weak transcription	Left Ventricle	heart
42	chr7:6309000-6310600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:6309000-6310600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr7:6309000-6310600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:6309000-6310600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr7:6309000-6310600	Weak transcription	Esophagus	oesophagus
47	chr7:6309000-6310600	Weak transcription	Spleen	Spleen
48	chr7:6309200-6309600	Weak transcription	Colon Smooth Muscle	Colon
49	chr7:6309200-6310200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:6309200-6310200	Weak transcription	Stomach Smooth Muscle	stomach

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