Variant report

Variant	nsv870010
Chromosome Location	chr6:34713359-34880048
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3883)
CpG islands
(count:3484)
Chromatin interactive
region (count:248)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:3883 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:34713147-34714396	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:34760664-34761063	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:34763588-34764041	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:34744211-34744366	K562	blood:	n/a	n/a
5	ARID3A	chr6:34724840-34725300	K562	blood:	n/a	n/a
6	ARID3A	chr6:34802936-34803203	K562	blood:	n/a	n/a
7	ARID3A	chr6:34855719-34856923	K562	blood:	n/a	n/a
8	ARID3A	chr6:34867597-34867797	HepG2	liver:	n/a	n/a
9	ARID3A	chr6:34807829-34807953	K562	blood:	n/a	n/a
10	ARID3A	chr6:34712925-34713484	K562	blood:	n/a	n/a
11	ARID3A	chr6:34778815-34779244	HepG2	liver:	n/a	n/a
12	ARID3A	chr6:34832879-34833479	K562	blood:	n/a	n/a
13	ARID3A	chr6:34724272-34725451	HepG2	liver:	n/a	n/a
14	ARID3A	chr6:34759766-34759905	K562	blood:	n/a	n/a
15	ARID3A	chr6:34724265-34724568	K562	blood:	n/a	n/a
16	ARID3A	chr6:34856773-34857038	HepG2	liver:	n/a	n/a
17	ARID3A	chr6:34759163-34759895	HepG2	liver:	n/a	n/a
18	ATF1	chr6:34784452-34784735	K562	blood:	n/a	n/a
19	ATF1	chr6:34855487-34856397	K562	blood:	n/a	chr6:34855838-34855852
20	ATF1	chr6:34803008-34803279	K562	blood:	n/a	n/a
21	ATF1	chr6:34874691-34874810	K562	blood:	n/a	n/a
22	ATF1	chr6:34724842-34725509	K562	blood:	n/a	n/a
23	ATF1	chr6:34744205-34744329	K562	blood:	n/a	n/a
24	ATF1	chr6:34827687-34828162	K562	blood:	n/a	n/a
25	ATF1	chr6:34712995-34713537	K562	blood:	n/a	n/a
26	ATF1	chr6:34832863-34833326	K562	blood:	n/a	n/a
27	ATF1	chr6:34856679-34857207	K562	blood:	n/a	n/a
28	ATF2	chr6:34778634-34779486	GM12878	blood:	n/a	n/a
29	ATF2	chr6:34724744-34725530	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr6:34724812-34725445	GM12878	blood:	n/a	n/a
31	ATF2	chr6:34856545-34857022	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr6:34725075-34725581	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr6:34855528-34856206	GM12878	blood:	n/a	chr6:34855838-34855852
34	ATF2	chr6:34724776-34725771	GM12878	blood:	n/a	n/a
35	ATF2	chr6:34778788-34779343	GM12878	blood:	n/a	n/a
36	ATF2	chr6:34855549-34856136	H1-hESC	embryonic stem cell:	n/a	chr6:34855838-34855852
37	ATF2	chr6:34855555-34856110	GM12878	blood:	n/a	chr6:34855838-34855852
38	ATF2	chr6:34855474-34856393	H1-hESC	embryonic stem cell:	n/a	chr6:34855838-34855852
39	ATF2	chr6:34856633-34857098	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF3	chr6:34855553-34856043	K562	blood:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
41	ATF3	chr6:34760499-34760914	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF3	chr6:34759578-34760020	K562	blood:	n/a	n/a
43	ATF3	chr6:34725040-34725451	HepG2	liver:	n/a	chr6:34725266-34725286
44	ATF3	chr6:34724532-34725607	HepG2	liver:	n/a	chr6:34725266-34725286
45	ATF3	chr6:34856802-34857214	K562	blood:	n/a	n/a
46	ATF3	chr6:34760493-34760861	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF3	chr6:34869194-34869500	H1-hESC	embryonic stem cell:	n/a	n/a
48	ATF3	chr6:34760514-34760932	K562	blood:	n/a	n/a
49	ATF3	chr6:34855584-34856143	HepG2	liver:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
50	ATF3	chr6:34855611-34856089	A549	lung:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853

(count:3484 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:34843579-34843629	GM06990	blood:	n/a
2	chr6:34759645-34759695	HPAEpiC	pulmonary alveolar:	n/a
3	chr6:34760070-34760120	Hela-S3	cervix:	n/a
4	chr6:34856927-34856977	HRPEpiC	eye:	n/a
5	chr6:34725288-34725338	NHBE	bronchial:	n/a
6	chr6:34853620-34853670	A549	lung:	n/a
7	chr6:34759629-34759679	NH-A	brain:	n/a
8	chr6:34843579-34843629	GM06990	blood:	n/a
9	chr6:34759645-34759695	HPAEpiC	pulmonary alveolar:	n/a
10	chr6:34760070-34760120	Hela-S3	cervix:	n/a
11	chr6:34856927-34856977	HRPEpiC	eye:	n/a
12	chr6:34725288-34725338	NHBE	bronchial:	n/a
13	chr6:34853620-34853670	A549	lung:	n/a
14	chr6:34759629-34759679	NH-A	brain:	n/a
15	chr6:34759018-34759068	HRPEpiC	eye:	n/a
16	chr6:34846110-34846160	Jurkat	blood:	n/a
17	chr6:34728146-34728196	ECC-1	luminal epithelium:	n/a
18	chr6:34760183-34760233	GM06990	blood:	n/a
19	chr6:34855887-34855937	PrEC	prostate:	n/a
20	chr6:34861541-34861591	GM12878	blood:	n/a
21	chr6:34723390-34723440	A549	lung:	n/a
22	chr6:34724845-34724895	PFSK-1	brain:	n/a
23	chr6:34856158-34856208	HEK293	kidney:	embryo
24	chr6:34855834-34855884	HCM	heart:	n/a
25	chr6:34759018-34759068	HRE	kidney:	n/a
26	chr6:34725288-34725338	AG09319	gingival:	n/a
27	chr6:34724845-34724895	IMR90	lung:	fetal
28	chr6:34728146-34728196	HEEpiC	esophagus:	n/a
29	chr6:34846110-34846160	MCF-7	breast:	n/a
30	chr6:34858220-34858270	SKMC	muscle:	n/a
31	chr6:34802849-34802899	AG04450	lung:	fetal
32	chr6:34852903-34852953	AoSMC	blood vessel:	n/a
33	chr6:34724751-34724801	ProgFib	skin:	n/a
34	chr6:34852903-34852953	ovcar-3	ovarian:	n/a
35	chr6:34855887-34855937	GM19239	blood:	n/a
36	chr6:34725359-34725409	NH-A	brain:	n/a
37	chr6:34728146-34728196	U87	brain:	n/a
38	chr6:34843579-34843629	HMEC	breast:	n/a
39	chr6:34728146-34728196	PFSK-1	brain:	n/a
40	chr6:34857162-34857212	SK-N-SH	brain:	n/a
41	chr6:34802849-34802899	Caco-2	colon:	n/a
42	chr6:34857473-34857523	PFSK-1	brain:	n/a
43	chr6:34857473-34857523	HMEC	breast:	n/a
44	chr6:34852903-34852953	HNPCEpiC	eye:	n/a
45	chr6:34725144-34725194	ovcar-3	ovarian:	n/a
46	chr6:34857162-34857212	NHDF-neo	bronchial:	n/a
47	chr6:34858220-34858270	AG09309	skin:	n/a
48	chr6:34855887-34855937	A549	lung:	n/a
49	chr6:34855834-34855884	SK-N-MC	brain:	n/a
50	chr6:34846110-34846160	PrEC	prostate:	n/a

(count:248 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr6:34755849..34757627-chr6:34758021..34759694,2	MCF-7	breast:
2	chr6:34766487..34768017-chr6:34768544..34771127,2	MCF-7	breast:
3	chr6:34869344..34871506-chr6:34874560..34877375,2	MCF-7	breast:
4	chr6:34759673..34761787-chr6:34787706..34790146,2	MCF-7	breast:
5	chr6:34658536..34661755-chr6:34723904..34726636,3	MCF-7	breast:
6	chr6:34853107..34854715-chr6:34857316..34859285,2	MCF-7	breast:
7	chr6:34769066..34771587-chr6:34778054..34780112,2	K562	blood:
8	chr6:34723587..34727193-chr6:34757798..34760917,6	K562	blood:
9	chr3:156534879..156535549-chr6:34855191..34855795,2	Hela-S3	cervix:
10	chr6:34723754..34729214-chr6:34758122..34762652,9	MCF-7	breast:
11	chr6:34834235..34837166-chr6:34838772..34840616,2	MCF-7	breast:
12	chr6:34392492..34394082-chr6:34758851..34761190,2	MCF-7	breast:
13	chr6:34869119..34871903-chr6:34874576..34877464,3	K562	blood:
14	chr6:34663907..34669185-chr6:34723600..34728462,6	MCF-7	breast:
15	chr6:34758735..34762506-chr6:34853024..34858695,7	MCF-7	breast:
16	chr6:34759044..34761512-chr6:34840299..34841904,2	K562	blood:
17	chr6:34747403..34749848-chr6:34763943..34765604,2	K562	blood:
18	chr6:34711350..34714841-chr6:34715861..34719730,5	K562	blood:
19	chr6:34758609..34760887-chr6:34760994..34763673,2	MCF-7	breast:
20	chr6:34662895..34664989-chr6:34725317..34726977,2	MCF-7	breast:
21	chr6:34392549..34394826-chr6:34874788..34877623,2	MCF-7	breast:
22	chr6:34782930..34784591-chr6:34786044..34787965,3	K562	blood:
23	chr6:34733163..34735637-chr6:34853537..34855573,2	K562	blood:
24	chr6:34733163..34735637-chr6:34853537..34855573,2	K562	blood:
25	chr6:34854671..34856774-chr6:34870944..34872529,2	MCF-7	breast:
26	chr6:34874014..34875640-chr6:34878716..34880730,2	K562	blood:
27	chr6:34853107..34854715-chr6:34857316..34859285,2	MCF-7	breast:
28	chr6:34853843..34858855-chr6:34871881..34876120,6	MCF-7	breast:
29	chr6:34671316..34674801-chr6:34727062..34730590,3	K562	blood:
30	chr6:34203757..34206607-chr6:34730565..34733013,2	K562	blood:
31	chr6:34723520..34726444-chr6:34854512..34857469,3	MCF-7	breast:
32	chr6:34713112..34714744-chr6:34728866..34731406,2	K562	blood:
33	chr6:34772137..34774417-chr6:34775291..34779142,3	K562	blood:
34	chr6:34837193..34840409-chr6:34855219..34858367,4	K562	blood:
35	chr6:34853391..34855742-chr6:34918404..34920858,2	K562	blood:
36	chr6:34735510..34738429-chr6:34758057..34759743,2	MCF-7	breast:
37	chr6:34759998..34762126-chr6:34777640..34780581,3	MCF-7	breast:
38	chr6:34763567..34765463-chr6:34776356..34778910,2	MCF-7	breast:
39	chr6:34828049..34830008-chr6:34830119..34831858,2	K562	blood:
40	chr6:34875439..34878531-chr6:34883509..34886060,3	MCF-7	breast:
41	chr6:34843479..34847323-chr6:34849401..34853884,4	MCF-7	breast:
42	chr6:34773594..34775363-chr6:34780371..34783229,3	K562	blood:
43	chr6:34759204..34760846-chr6:34788555..34790886,2	K562	blood:
44	chr6:34761569..34764046-chr6:35162032..35164160,2	K562	blood:
45	chr6:34759093..34761380-chr6:34773456..34776260,3	MCF-7	breast:
46	chr6:34723754..34729214-chr6:34758122..34762652,9	MCF-7	breast:
47	chr6:34776609..34778206-chr6:34824620..34826578,2	K562	blood:
48	chr6:34828677..34833050-chr6:34855355..34860063,5	K562	blood:
49	chr6:34865959..34867467-chr6:34869062..34871406,2	K562	blood:
50	chr12:120729250..120730043-chr6:34855337..34856229,2	Hela-S3	cervix:

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SNRPC	hsa-miR-23b-3p	chr6:34741522-34741542
2	SNRPC	hsa-miR-16-5p	chr6:34741398-34741418
3	SNRPC	hsa-miR-23b-3p	chr6:34741535-34741542
4	UHRF1BP1	hsa-let-7e-5p	chr6:34825126-34825148
5	UHRF1BP1	hsa-let-7e-5p	chr6:34843708-34843714

Variant related genes	Relation type
ENSG00000206717	TF binding region
ANKS1A	TF binding region
UHRF1BP1	TF binding region
TAF11	TF binding region
SNRPC	TF binding region
ENSG00000206717	CpG island
ANKS1A	CpG island
UHRF1BP1	CpG island
TAF11	CpG island
SNRPC	CpG island
ENSG00000217130	chromatin interactions
ENSG00000197914	chromatin interactions
ENSG00000270800	chromatin interactions
ENSG00000159216	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000265123	chromatin interactions
ENSG00000170949	chromatin interactions
ENSG00000165280	chromatin interactions
ENSG00000206717	chromatin interactions
ENSG00000159733	chromatin interactions
ENSG00000272374	chromatin interactions
ENSG00000239059	chromatin interactions
ENSG00000124614	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000220643	chromatin interactions
ENSG00000196821	chromatin interactions
ENSG00000238484	chromatin interactions
ENSG00000065029	chromatin interactions
ENSG00000064995	chromatin interactions
ENSG00000198755	chromatin interactions
ENSG00000093183	chromatin interactions
ENSG00000162236	chromatin interactions
ENSG00000256690	chromatin interactions
ENSG00000174197	chromatin interactions
ENSG00000064999	chromatin interactions
ENSG00000206538	chromatin interactions
ENSG00000124562	chromatin interactions
ENSG00000125454	chromatin interactions
ENSG00000137309	chromatin interactions
ENSG00000105662	chromatin interactions
ENSG00000065060	chromatin interactions
ENSG00000008324	chromatin interactions
ENSG00000272288	chromatin interactions

Extended variants
information (count: 6249 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:6249 , 50 per page) page: 1 2 3 4 5 6 7 ... 125

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2814969	chr6:34713399-34713400	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140172571	chr6:34713466-34713467	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs116256803	chr6:34713473-34713474	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs2814970	chr6:34713500-34713501	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs111796167	chr6:34713508-34713509	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs552298769	chr6:34713593-34713594	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs534301819	chr6:34713595-34713596	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs555443901	chr6:34713602-34713603	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs145569654	chr6:34713611-34713612	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs145315756	chr6:34713637-34713638	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs556466634	chr6:34713690-34713691	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs181071215	chr6:34713724-34713725	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs545238529	chr6:34713791-34713792	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs560747502	chr6:34713813-34713814	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570699927	chr6:34713823-34713824	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs527349913	chr6:34713886-34713887	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs542729737	chr6:34713979-34713980	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs576811755	chr6:34714002-34714003	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs373733945	chr6:34714004-34714005	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs185861955	chr6:34714005-34714006	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs75375843	chr6:34714022-34714023	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545577573	chr6:34714120-34714121	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs550079813	chr6:34714121-34714122	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs571616894	chr6:34714168-34714169	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs114049840	chr6:34714170-34714171	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs112928223	chr6:34714195-34714196	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs528251490	chr6:34714201-34714202	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs386700082	chr6:34714209-34714210	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534003427	chr6:34714210-34714211	Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs190239859	chr6:34714241-34714242	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567529866	chr6:34714251-34714252	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150954858	chr6:34714268-34714269	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2764208	chr6:34714322-34714323	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
34	rs78117317	chr6:34714336-34714337	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545299875	chr6:34714367-34714368	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554045835	chr6:34714391-34714392	Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140747694	chr6:34714423-34714424	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368454618	chr6:34714479-34714480	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs542345597	chr6:34714514-34714515	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs182411020	chr6:34714528-34714529	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531331286	chr6:34714556-34714557	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543400098	chr6:34714559-34714560	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564875081	chr6:34714655-34714656	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs532417842	chr6:34714700-34714701	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115357460	chr6:34714734-34714735	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111290382	chr6:34714736-34714737	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529928170	chr6:34714745-34714746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570756473	chr6:34714761-34714762	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs185941317	chr6:34714788-34714789	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537959519	chr6:34714789-34714790	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5059 , 50 per page) page: 1 2 3 4 5 6 7 ... 102

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34698000-34714000	Weak transcription	Esophagus	oesophagus
2	chr6:34711400-34714600	Enhancers	Placenta	Placenta
3	chr6:34711600-34715400	Enhancers	Fetal Intestine Large	intestine
4	chr6:34712200-34714800	Enhancers	Fetal Intestine Small	intestine
5	chr6:34712400-34714400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr6:34712600-34714200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:34712800-34713400	Enhancers	A549	lung
8	chr6:34712800-34713400	Flanking Active TSS	NHEK	skin
9	chr6:34712800-34714400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:34712800-34714400	Flanking Active TSS	HepG2	liver
11	chr6:34712800-34714600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr6:34713000-34713400	Flanking Active TSS	K562	blood
13	chr6:34713000-34713400	Enhancers	NH-A	brain
14	chr6:34713000-34714000	Enhancers	HMEC	breast
15	chr6:34713000-34714200	Weak transcription	Small Intestine	intestine
16	chr6:34713200-34713400	Enhancers	Liver	Liver
17	chr6:34713200-34713400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr6:34713200-34713400	Enhancers	Stomach Mucosa	stomach
19	chr6:34713200-34713400	Flanking Active TSS	Hela-S3	cervix
20	chr6:34713200-34713600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:34713200-34713600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:34713200-34713600	Enhancers	Lung	lung
23	chr6:34713200-34714000	Active TSS	Duodenum Mucosa	Duodenum
24	chr6:34713200-34714400	Enhancers	Pancreas	Pancrea
25	chr6:34713400-34713600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr6:34713400-34713600	Flanking Active TSS	Stomach Mucosa	stomach
27	chr6:34713400-34713600	Enhancers	Hela-S3	cervix
28	chr6:34713400-34713800	Enhancers	NHEK	skin
29	chr6:34713400-34714000	Weak transcription	Liver	Liver
30	chr6:34713400-34715600	Enhancers	K562	blood
31	chr6:34713600-34713800	Weak transcription	Lung	lung
32	chr6:34713600-34714200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr6:34713600-34714400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:34713600-34714800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr6:34713600-34716200	Enhancers	Stomach Mucosa	stomach
36	chr6:34713800-34714000	Flanking Active TSS	NHEK	skin
37	chr6:34713800-34714200	Enhancers	Lung	lung
38	chr6:34713800-34714200	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr6:34714000-34714200	Enhancers	Liver	Liver
40	chr6:34714000-34714200	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr6:34714000-34714400	Enhancers	Esophagus	oesophagus
42	chr6:34714000-34714400	Enhancers	Fetal Lung	lung
43	chr6:34714000-34714600	Enhancers	NHEK	skin
44	chr6:34714200-34714800	Enhancers	Duodenum Mucosa	Duodenum
45	chr6:34714400-34715800	Weak transcription	Esophagus	oesophagus
46	chr6:34714400-34716200	Enhancers	HepG2	liver
47	chr6:34715200-34715400	Enhancers	Small Intestine	intestine
48	chr6:34715800-34716000	Enhancers	Esophagus	oesophagus
49	chr6:34716200-34724200	Weak transcription	Stomach Mucosa	stomach
50	chr6:34719400-34721600	Enhancers	Primary B cells from peripheral blood	blood

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