Variant report

Variant	nsv1048707
Chromosome Location	chr10:834439-915534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1998)
CpG islands
(count:2260)
Chromatin interactive
region (count:105)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1998 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr10:834600-835039	HepG2	liver:	n/a	chr10:834754-834770
2	ARID3A	chr10:840593-840806	HepG2	liver:	n/a	n/a
3	ATF2	chr10:897850-898486	GM12878	blood:	n/a	n/a
4	ATF2	chr10:897794-898328	GM12878	blood:	n/a	n/a
5	ATF3	chr10:835269-835673	A549	lung:	n/a	n/a
6	BACH1	chr10:834956-835728	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr10:835339-835594	K562	blood:	n/a	n/a
8	BATF	chr10:864445-864780	GM12878	blood:	n/a	n/a
9	BATF	chr10:864426-864693	GM12878	blood:	n/a	n/a
10	BCL11A	chr10:897831-898188	GM12878	blood:	n/a	n/a
11	BCL3	chr10:911059-911458	GM12878	blood:	n/a	n/a
12	BCL3	chr10:857311-857602	GM12878	blood:	n/a	n/a
13	BCL3	chr10:835049-835724	A549	lung:	n/a	chr10:835215-835224 chr10:835319-835332 chr10:835073-835082 chr10:835063-835076
14	BCL3	chr10:850410-851109	K562	blood:	n/a	n/a
15	BCL3	chr10:850707-851034	GM12878	blood:	n/a	n/a
16	BCL3	chr10:848783-849025	GM12878	blood:	n/a	n/a
17	BCL3	chr10:857352-857584	GM12878	blood:	n/a	n/a
18	BCL3	chr10:851319-851820	GM12878	blood:	n/a	n/a
19	BCL3	chr10:837596-837974	GM12878	blood:	n/a	n/a
20	BCL3	chr10:837478-837818	GM12878	blood:	n/a	n/a
21	BCLAF1	chr10:897748-898331	GM12878	blood:	n/a	n/a
22	BCLAF1	chr10:897823-898237	GM12878	blood:	n/a	n/a
23	BHLHE40	chr10:834752-835119	HepG2	liver:	n/a	n/a
24	BHLHE40	chr10:850930-850986	K562	blood:	n/a	n/a
25	BHLHE40	chr10:897957-898311	GM12878	blood:	n/a	n/a
26	BHLHE40	chr10:836004-836159	K562	blood:	n/a	chr10:836014-836023 chr10:836008-836029 chr10:836014-836023 chr10:836015-836024 chr10:836012-836025
27	BHLHE40	chr10:834946-835733	K562	blood:	n/a	n/a
28	BRCA1	chr10:835479-835555	H1-hESC	embryonic stem cell:	n/a	n/a
29	CBX3	chr10:834865-835275	K562	blood:	n/a	n/a
30	CBX3	chr10:835352-835677	K562	blood:	n/a	n/a
31	CBX3	chr10:835027-835220	K562	blood:	n/a	n/a
32	CBX3	chr10:835409-835597	K562	blood:	n/a	n/a
33	CCNT2	chr10:851115-851936	K562	blood:	n/a	n/a
34	CCNT2	chr10:849052-849379	K562	blood:	n/a	n/a
35	CCNT2	chr10:834870-835771	K562	blood:	n/a	chr10:835329-835338 chr10:835323-835332
36	CCNT2	chr10:850177-850516	K562	blood:	n/a	n/a
37	CEBPB	chr10:856457-856481	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr10:859017-859326	HepG2	liver:	n/a	n/a
39	CEBPB	chr10:885850-886092	H1-hESC	embryonic stem cell:	n/a	chr10:885960-885971
40	CEBPB	chr10:885795-886149	A549	lung:	n/a	chr10:885960-885971
41	CEBPB	chr10:882730-883109	A549	lung:	n/a	chr10:882916-882933 chr10:882919-882928 chr10:882919-882928 chr10:882918-882929 chr10:882919-882928 chr10:882917-882930
42	CEBPB	chr10:882758-883104	Hela-S3	cervix:	n/a	chr10:882916-882933 chr10:882919-882928 chr10:882919-882928 chr10:882918-882929 chr10:882919-882928 chr10:882917-882930
43	CEBPB	chr10:882723-883116	K562	blood:	n/a	chr10:882916-882933 chr10:882919-882928 chr10:882919-882928 chr10:882918-882929 chr10:882919-882928 chr10:882917-882930
44	CEBPB	chr10:867452-867736	IMR90	lung:	n/a	n/a
45	CEBPB	chr10:859015-859290	K562	blood:	n/a	n/a
46	CEBPB	chr10:882635-883140	MCF-7	breast:	n/a	chr10:882916-882933 chr10:882919-882928 chr10:882919-882928 chr10:882918-882929 chr10:882919-882928 chr10:882917-882930
47	CEBPB	chr10:885807-886122	K562	blood:	n/a	chr10:885960-885971
48	CEBPB	chr10:882626-883174	A549	lung:	n/a	chr10:882916-882933 chr10:882919-882928 chr10:882919-882928 chr10:882918-882929 chr10:882919-882928 chr10:882917-882930
49	CEBPB	chr10:882743-883110	IMR90	lung:	n/a	chr10:882916-882933 chr10:882919-882928 chr10:882919-882928 chr10:882918-882929 chr10:882919-882928 chr10:882917-882930
50	CEBPB	chr10:893823-894219	MCF-7	breast:	n/a	n/a

(count:2260 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:844186-844236	HUVEC	blood vessel:	n/a
2	chr10:834428-834478	HCT-116	colon:	n/a
3	chr10:850393-850443	H1-hESC	embryonic stem cell:	embryo
4	chr10:844186-844236	HUVEC	blood vessel:	n/a
5	chr10:834428-834478	HCT-116	colon:	n/a
6	chr10:850393-850443	H1-hESC	embryonic stem cell:	embryo
7	chr10:835070-835120	IMR90	lung:	fetal
8	chr10:855796-855846	AG10803	skin:	n/a
9	chr10:858817-858867	U87	brain:	n/a
10	chr10:858817-858867	HEK293	kidney:	embryo
11	chr10:852579-852629	HEEpiC	esophagus:	n/a
12	chr10:835615-835665	HCM	heart:	n/a
13	chr10:882938-882988	HIPEpiC	eye:	n/a
14	chr10:850393-850443	HCM	heart:	n/a
15	chr10:835070-835120	H1-hESC	embryonic stem cell:	embryo
16	chr10:839609-839659	Caco-2	colon:	n/a
17	chr10:834428-834478	HRE	kidney:	n/a
18	chr10:856428-856478	NHBE	bronchial:	n/a
19	chr10:834428-834478	AG09319	gingival:	n/a
20	chr10:835505-835555	HRCEpiC	kidney:	n/a
21	chr10:855796-855846	HEK293	kidney:	embryo
22	chr10:853215-853265	IMR90	lung:	fetal
23	chr10:858817-858867	CMK	blood:	n/a
24	chr10:839865-839915	BE2_C	brain:	n/a
25	chr10:891726-891776	HPAEpiC	pulmonary alveolar:	n/a
26	chr10:840201-840251	BJ	skin:	n/a
27	chr10:864596-864646	AG04450	lung:	fetal
28	chr10:858923-858973	MCF-7	breast:	n/a
29	chr10:844186-844236	ECC-1	luminal epithelium:	n/a
30	chr10:838112-838162	PFSK-1	brain:	n/a
31	chr10:835615-835665	H1-hESC	embryonic stem cell:	embryo
32	chr10:851101-851151	K562	blood:	n/a
33	chr10:882938-882988	HEEpiC	esophagus:	n/a
34	chr10:835070-835120	HMEC	breast:	n/a
35	chr10:850393-850443	SK-N-SH_RA	brain:	n/a
36	chr10:858923-858973	HRE	kidney:	n/a
37	chr10:852009-852059	CMK	blood:	n/a
38	chr10:860989-861039	SAEC	small airway:	n/a
39	chr10:882938-882988	AoSMC	blood vessel:	n/a
40	chr10:855060-855110	HUVEC	blood vessel:	n/a
41	chr10:856428-856478	U87	brain:	n/a
42	chr10:840201-840251	AG10803	skin:	n/a
43	chr10:838112-838162	T-47D	breast:	n/a
44	chr10:849032-849082	GM19239	blood:	n/a
45	chr10:852579-852629	IMR90	lung:	fetal
46	chr10:882938-882988	Hela-S3	cervix:	n/a
47	chr10:851101-851151	PFSK-1	brain:	n/a
48	chr10:838112-838162	H1-hESC	embryonic stem cell:	embryo
49	chr10:855060-855110	AG10803	skin:	n/a
50	chr10:855060-855110	GM06990	blood:	n/a

(count:105 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr10:284740..285439-chr10:835087..835858,2	MCF-7	breast:
2	chr10:881731..883394-chr10:897449..900217,2	K562	blood:
3	chr10:864445..868005-chr10:868654..872720,4	MCF-7	breast:
4	chr10:909518..913161-chr10:914478..916410,3	MCF-7	breast:
5	chr10:873393..874946-chr10:880496..883896,3	MCF-7	breast:
6	chr10:909518..913161-chr10:914478..916410,3	MCF-7	breast:
7	chr10:884410..889606-chr10:890203..894032,6	MCF-7	breast:
8	chr10:892165..895141-chr10:896184..898435,2	MCF-7	breast:
9	chr10:734426..737338-chr10:832688..834504,2	MCF-7	breast:
10	chr10:849218..853180-chr10:854145..855910,4	K562	blood:
11	chr10:875836..878589-chr10:900191..901904,2	K562	blood:
12	chr10:867286..872022-chr10:872984..878104,5	K562	blood:
13	chr10:909921..911863-chr10:916783..918577,2	MCF-7	breast:
14	chr10:844752..846844-chr10:853886..856295,2	K562	blood:
15	chr10:878636..882956-chr10:886285..890248,4	MCF-7	breast:
16	chr10:840309..840941-chr10:856321..856837,2	MCF-7	breast:
17	chr10:869815..872279-chr10:874398..875993,2	MCF-7	breast:
18	chr10:633910..634891-chr10:834953..835643,3	MCF-7	breast:
19	chr10:907666..909265-chr10:909779..913077,3	MCF-7	breast:
20	chr10:840517..842192-chr10:842666..844549,2	MCF-7	breast:
21	chr10:857383..859373-chr10:865645..868472,2	MCF-7	breast:
22	chr10:849218..853180-chr10:854145..855910,4	K562	blood:
23	chr10:892165..895141-chr10:896184..898435,2	MCF-7	breast:
24	chr10:556641..557560-chr10:835088..835885,2	K562	blood:
25	chr10:914894..917221-chr10:917303..918870,2	K562	blood:
26	chr10:862621..864941-chr10:1093601..1095368,2	K562	blood:
27	chr10:851680..853848-chr10:854341..855901,2	K562	blood:
28	chr10:908934..911082-chr10:916897..919212,2	MCF-7	breast:
29	chr10:733970..741093-chr10:828125..835309,12	MCF-7	breast:
30	chr10:860534..862520-chr10:865171..867219,2	MCF-7	breast:
31	chr10:456178..457890-chr10:852622..854288,2	MCF-7	breast:
32	chr10:902184..903892-chr10:910884..912602,2	K562	blood:
33	chr10:887619..890410-chr10:894669..896676,2	MCF-7	breast:
34	chr10:900424..902555-chr10:913701..915426,2	K562	blood:
35	chr10:864445..868005-chr10:868654..872720,4	MCF-7	breast:
36	chr10:893412..896074-chr10:1094765..1097365,2	MCF-7	breast:
37	chr10:851680..853848-chr10:854341..855901,2	K562	blood:
38	chr10:835119..835814-chr10:856015..856751,2	MCF-7	breast:
39	chr10:892068..894386-chr10:1102064..1103667,2	MCF-7	breast:
40	chr10:835224..837627-chr10:1092339..1094785,2	MCF-7	breast:
41	chr10:556841..557546-chr10:834923..836004,5	MCF-7	breast:
42	chr10:902184..903892-chr10:910884..912602,2	K562	blood:
43	chr10:556739..557438-chr10:855963..856846,3	MCF-7	breast:
44	chr10:847643..849814-chr10:851213..852909,2	K562	blood:
45	chr10:826973..829590-chr10:832494..835604,4	K562	blood:
46	chr10:897785..900059-chr10:902381..904069,2	K562	blood:
47	chr10:890079..892207-chr10:894846..896504,2	K562	blood:
48	chr10:907666..909265-chr10:909779..913077,3	MCF-7	breast:
49	chr10:852322..854745-chr10:858049..860254,2	K562	blood:
50	chr10:877019..880477-chr10:881479..884204,3	K562	blood:

No data

Variant related genes	Relation type
LARP4B	TF binding region
LARP4B	CpG island
ENSG00000107929	chromatin interactions
ENSG00000151240	chromatin interactions
ENSG00000047056	chromatin interactions
ENSG00000067064	chromatin interactions
ENSG00000015171	chromatin interactions

Extended variants
information (count: 3439 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3439 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9783235	chr10:834439-834440	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs117573051	chr10:834447-834448	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139114473	chr10:834516-834517	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527674287	chr10:834562-834563	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546966498	chr10:834591-834592	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4881529	chr10:834626-834627	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs149925587	chr10:834648-834649	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558686293	chr10:834674-834675	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189141980	chr10:834676-834677	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530776850	chr10:834724-834725	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs4881530	chr10:834736-834737	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs554277679	chr10:834744-834745	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs192807469	chr10:834772-834773	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539820616	chr10:834814-834815	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573081676	chr10:834816-834817	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115010468	chr10:834829-834830	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546101332	chr10:834851-834852	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563049865	chr10:834887-834888	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs145013486	chr10:834916-834917	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74117532	chr10:834922-834923	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567199745	chr10:834926-834927	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536191537	chr10:834944-834945	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs553386164	chr10:834950-834951	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs553003371	chr10:834953-834954	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74456321	chr10:834978-834979	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs74117534	chr10:834994-834995	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs566789612	chr10:834998-834999	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs4880742	chr10:835008-835009	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs34278722	chr10:835015-835016	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs7095043	chr10:835055-835056	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs568993076	chr10:835072-835073	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537636088	chr10:835117-835118	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185063345	chr10:835148-835149	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs35967867	chr10:835167-835168	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs112350315	chr10:835180-835181	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs553321725	chr10:835196-835197	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs577122212	chr10:835200-835201	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs540082582	chr10:835209-835210	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs556567819	chr10:835219-835220	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544206166	chr10:835314-835315	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs554653694	chr10:835343-835344	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs542038683	chr10:835344-835345	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs562201447	chr10:835348-835349	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs77815007	chr10:835351-835352	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs376316086	chr10:835377-835378	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs181021396	chr10:835434-835435	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs184994433	chr10:835450-835451	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs146184395	chr10:835451-835452	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs574378908	chr10:835469-835470	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs529996352	chr10:835470-835471	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2799 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:831000-834600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr10:831000-834800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:831200-834800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:831200-834800	Weak transcription	Brain Angular Gyrus	brain
5	chr10:831200-834800	Weak transcription	Brain Substantia Nigra	brain
6	chr10:831200-834800	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:831200-834800	Weak transcription	Right Atrium	heart
8	chr10:831200-835000	Weak transcription	Aorta	Aorta
9	chr10:831200-835000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:831200-835000	Weak transcription	Psoas Muscle	Psoas
11	chr10:831200-835000	Weak transcription	HUVEC	blood vessel
12	chr10:831400-834600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr10:831400-834800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr10:831400-834800	Weak transcription	A549	lung
15	chr10:831400-835000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:831400-835000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:831400-835000	Weak transcription	Brain Germinal Matrix	brain
18	chr10:831400-835000	Weak transcription	NHLF	lung
19	chr10:831400-835200	Weak transcription	Fetal Brain Female	brain
20	chr10:831400-850000	Weak transcription	Fetal Heart	heart
21	chr10:831600-834800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr10:831600-835000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:831600-835000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr10:831600-835600	Weak transcription	HSMMtube	muscle
25	chr10:831800-835000	Weak transcription	Fetal Brain Male	brain
26	chr10:832800-834800	Enhancers	Pancreas	Pancrea
27	chr10:832800-836600	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr10:833200-835200	Enhancers	NH-A	brain
29	chr10:833600-835000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr10:833800-834800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr10:834000-834800	Bivalent Enhancer	Fetal Stomach	stomach
32	chr10:834000-835000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:834000-835000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:834000-835000	Enhancers	Adipose Nuclei	Adipose
35	chr10:834000-835000	Flanking Active TSS	Osteobl	bone
36	chr10:834000-835200	Enhancers	Spleen	Spleen
37	chr10:834000-835600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr10:834000-836000	Enhancers	Right Ventricle	heart
39	chr10:834200-834800	Enhancers	Esophagus	oesophagus
40	chr10:834200-834800	Enhancers	Stomach Smooth Muscle	stomach
41	chr10:834200-835000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr10:834200-835000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:834200-835000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:834200-835000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr10:834200-835000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr10:834200-835000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr10:834200-835000	Enhancers	Fetal Intestine Small	intestine
48	chr10:834200-835000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr10:834200-835200	Enhancers	HSMM	muscle
50	chr10:834200-836000	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links