Variant report

Variant	nsv462905
Chromosome Location	chr6:34728253-34886436
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2991)
CpG islands
(count:2625)
Chromatin interactive
region (count:232)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

(count:2991 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:34867597-34867797	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:34856773-34857038	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:34760664-34761063	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:34759766-34759905	K562	blood:	n/a	n/a
5	ARID3A	chr6:34763588-34764041	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:34832879-34833479	K562	blood:	n/a	n/a
7	ARID3A	chr6:34778815-34779244	HepG2	liver:	n/a	n/a
8	ARID3A	chr6:34807829-34807953	K562	blood:	n/a	n/a
9	ARID3A	chr6:34802936-34803203	K562	blood:	n/a	n/a
10	ARID3A	chr6:34855719-34856923	K562	blood:	n/a	n/a
11	ARID3A	chr6:34744211-34744366	K562	blood:	n/a	n/a
12	ARID3A	chr6:34759163-34759895	HepG2	liver:	n/a	n/a
13	ATF1	chr6:34784452-34784735	K562	blood:	n/a	n/a
14	ATF1	chr6:34827687-34828162	K562	blood:	n/a	n/a
15	ATF1	chr6:34874691-34874810	K562	blood:	n/a	n/a
16	ATF1	chr6:34856679-34857207	K562	blood:	n/a	n/a
17	ATF1	chr6:34744205-34744329	K562	blood:	n/a	n/a
18	ATF1	chr6:34855487-34856397	K562	blood:	n/a	chr6:34855838-34855852
19	ATF1	chr6:34832863-34833326	K562	blood:	n/a	n/a
20	ATF1	chr6:34803008-34803279	K562	blood:	n/a	n/a
21	ATF2	chr6:34778788-34779343	GM12878	blood:	n/a	n/a
22	ATF2	chr6:34855528-34856206	GM12878	blood:	n/a	chr6:34855838-34855852
23	ATF2	chr6:34880420-34880916	GM12878	blood:	n/a	n/a
24	ATF2	chr6:34855555-34856110	GM12878	blood:	n/a	chr6:34855838-34855852
25	ATF2	chr6:34855549-34856136	H1-hESC	embryonic stem cell:	n/a	chr6:34855838-34855852
26	ATF2	chr6:34855474-34856393	H1-hESC	embryonic stem cell:	n/a	chr6:34855838-34855852
27	ATF2	chr6:34856633-34857098	H1-hESC	embryonic stem cell:	n/a	n/a
28	ATF2	chr6:34778634-34779486	GM12878	blood:	n/a	n/a
29	ATF2	chr6:34856545-34857022	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF3	chr6:34760514-34760932	K562	blood:	n/a	n/a
31	ATF3	chr6:34856802-34857214	K562	blood:	n/a	n/a
32	ATF3	chr6:34855626-34856017	H1-hESC	embryonic stem cell:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
33	ATF3	chr6:34855575-34856023	H1-hESC	embryonic stem cell:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
34	ATF3	chr6:34855584-34856143	HepG2	liver:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
35	ATF3	chr6:34855748-34855947	GM12878	blood:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
36	ATF3	chr6:34869076-34869473	K562	blood:	n/a	n/a
37	ATF3	chr6:34855564-34856045	K562	blood:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
38	ATF3	chr6:34855569-34856012	HepG2	liver:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
39	ATF3	chr6:34759578-34760020	K562	blood:	n/a	n/a
40	ATF3	chr6:34855565-34856126	K562	blood:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
41	ATF3	chr6:34760493-34760861	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF3	chr6:34869194-34869500	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF3	chr6:34760499-34760914	H1-hESC	embryonic stem cell:	n/a	n/a
44	ATF3	chr6:34855553-34856043	K562	blood:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
45	ATF3	chr6:34855595-34856148	GM12878	blood:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
46	ATF3	chr6:34855611-34856089	A549	lung:	n/a	chr6:34855830-34855850 chr6:34855839-34855852 chr6:34855838-34855853
47	BACH1	chr6:34807689-34808041	K562	blood:	n/a	n/a
48	BACH1	chr6:34856735-34857116	H1-hESC	embryonic stem cell:	n/a	n/a
49	BACH1	chr6:34760955-34761004	K562	blood:	n/a	n/a
50	BACH1	chr6:34759646-34760379	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2625 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:34753792-34753842	AG10803	skin:	n/a
2	chr6:34856920-34856970	SK-N-SH_RA	brain:	n/a
3	chr6:34753792-34753842	AG10803	skin:	n/a
4	chr6:34856920-34856970	SK-N-SH_RA	brain:	n/a
5	chr6:34856897-34856947	T-47D	breast:	n/a
6	chr6:34759018-34759068	HIPEpiC	eye:	n/a
7	chr6:34856897-34856947	PrEC	prostate:	n/a
8	chr6:34753792-34753842	H1-hESC	embryonic stem cell:	embryo
9	chr6:34855980-34856030	HRPEpiC	eye:	n/a
10	chr6:34855635-34855685	AG09319	gingival:	n/a
11	chr6:34855408-34855458	PrEC	prostate:	n/a
12	chr6:34857663-34857713	NB4	blood:	n/a
13	chr6:34857018-34857068	Jurkat	blood:	n/a
14	chr6:34856135-34856185	IMR90	lung:	fetal
15	chr6:34880181-34880231	GM12878	blood:	n/a
16	chr6:34759158-34759208	SK-N-SH_RA	brain:	n/a
17	chr6:34857473-34857523	PANC-1	pancreas:	n/a
18	chr6:34760183-34760233	LNCaP	prostate:	n/a
19	chr6:34856704-34856754	H1-hESC	embryonic stem cell:	embryo
20	chr6:34856217-34856267	AG04449	skin:	fetal
21	chr6:34855885-34855935	U87	brain:	n/a
22	chr6:34759629-34759679	SAEC	small airway:	n/a
23	chr6:34802849-34802899	HL-60	blood:	n/a
24	chr6:34802849-34802899	K562	blood:	n/a
25	chr6:34846110-34846160	PANC-1	pancreas:	n/a
26	chr6:34762855-34762905	HNPCEpiC	eye:	n/a
27	chr6:34855839-34855889	SKMC	muscle:	n/a
28	chr6:34759890-34759940	K562	blood:	n/a
29	chr6:34759018-34759068	ovcar-3	ovarian:	n/a
30	chr6:34759890-34759940	NB4	blood:	n/a
31	chr6:34760872-34760922	BJ	skin:	n/a
32	chr6:34802849-34802899	HCT-116	colon:	n/a
33	chr6:34855834-34855884	HRE	kidney:	n/a
34	chr6:34759549-34759599	HRE	kidney:	n/a
35	chr6:34855834-34855884	HAEpiC	amniotic membrane:	n/a
36	chr6:34856704-34856754	HCT-116	colon:	n/a
37	chr6:34846110-34846160	LNCaP	prostate:	n/a
38	chr6:34857018-34857068	PrEC	prostate:	n/a
39	chr6:34855635-34855685	RPTEC	kidney:	n/a
40	chr6:34856158-34856208	BE2_C	brain:	n/a
41	chr6:34857281-34857331	AG09319	gingival:	n/a
42	chr6:34880181-34880231	HCM	heart:	n/a
43	chr6:34857018-34857068	NB4	blood:	n/a
44	chr6:34857281-34857331	HNPCEpiC	eye:	n/a
45	chr6:34855789-34855839	NHDF-neo	bronchial:	n/a
46	chr6:34802849-34802899	U87	brain:	n/a
47	chr6:34843579-34843629	HEK293	kidney:	embryo
48	chr6:34760183-34760233	RPTEC	kidney:	n/a
49	chr6:34760872-34760922	GM12892	blood:	n/a
50	chr6:34853620-34853670	HL-60	blood:	n/a

(count:232 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr6:34832033..34834649-chr6:34867129..34869415,2	K562	blood:
2	chr6:34671316..34674801-chr6:34727062..34730590,3	K562	blood:
3	chr6:34758599..34760857-chr6:34787566..34790962,3	K562	blood:
4	chr6:34839187..34841748-chr6:34842263..34844932,3	MCF-7	breast:
5	chr6:34855693..34857942-chr6:35191744..35194149,2	MCF-7	breast:
6	chr6:34776624..34779636-chr6:34782424..34785536,4	K562	blood:
7	chr6:34773594..34775363-chr6:34780371..34783229,3	K562	blood:
8	chr6:34869344..34871506-chr6:34874560..34877375,2	MCF-7	breast:
9	chr6:34763985..34766508-chr6:34780371..34782291,2	MCF-7	breast:
10	chr6:34854671..34856774-chr6:34870944..34872529,2	MCF-7	breast:
11	chr6:34867094..34869111-chr6:34869478..34871062,2	K562	blood:
12	chr19:18794276..18794982-chr6:34759364..34759864,2	Hela-S3	cervix:
13	chr15:41913003..41913826-chr6:34855469..34856066,2	Hela-S3	cervix:
14	chr6:34844007..34846659-chr6:34861219..34864126,3	K562	blood:
15	chr6:34723779..34725431-chr6:34730256..34732966,2	MCF-7	breast:
16	chr6:34723754..34729214-chr6:34758122..34762652,9	MCF-7	breast:
17	chr6:34838773..34840454-chr6:34842472..34845232,2	MCF-7	breast:
18	chr6:34723785..34726777-chr6:34759451..34763099,4	MCF-7	breast:
19	chr6:34765089..34766642-chr6:34780537..34783059,2	K562	blood:
20	chr6:34839566..34841617-chr6:34847259..34849427,2	MCF-7	breast:
21	chr6:34759495..34761419-chr6:34776701..34778831,2	K562	blood:
22	chr6:34776609..34778206-chr6:34824620..34826578,2	K562	blood:
23	chr6:34763850..34765832-chr6:34855918..34857679,2	K562	blood:
24	chr6:34759093..34761380-chr6:34773456..34776260,3	MCF-7	breast:
25	chr6:34759673..34761787-chr6:34787706..34790146,2	MCF-7	breast:
26	chr6:34713112..34714744-chr6:34728866..34731406,2	K562	blood:
27	chr6:34795232..34797224-chr6:34825817..34828260,2	K562	blood:
28	chr6:34392549..34394826-chr6:34874788..34877623,2	MCF-7	breast:
29	chr6:34773543..34776313-chr6:34779272..34782261,3	K562	blood:
30	chr6:34638321..34641038-chr6:34757399..34759050,2	K562	blood:
31	chr6:34763567..34765463-chr6:34776356..34778910,2	MCF-7	breast:
32	chr6:34763985..34766654-chr6:34795153..34797244,4	K562	blood:
33	chr6:34651137..34654420-chr6:34758676..34761167,3	MCF-7	breast:
34	chr6:34882380..34884739-chr6:34891230..34893297,2	MCF-7	breast:
35	chr6:34758735..34762506-chr6:34853024..34858695,7	MCF-7	breast:
36	chr6:34747403..34749848-chr6:34763943..34765604,2	K562	blood:
37	chr6:34761569..34764046-chr6:35162032..35164160,2	K562	blood:
38	chr6:34755849..34757627-chr6:34758021..34759694,2	MCF-7	breast:
39	chr6:34760758..34763688-chr6:34766501..34768387,2	MCF-7	breast:
40	chr6:34874014..34875640-chr6:34878716..34880730,2	K562	blood:
41	chr6:34732771..34734494-chr6:34760287..34763087,2	K562	blood:
42	chr6:34772137..34774417-chr6:34775291..34779142,3	K562	blood:
43	chr6:34879811..34884262-chr6:34884635..34888970,5	K562	blood:
44	chr6:34855791..34858272-chr6:34864052..34865685,2	MCF-7	breast:
45	chr6:34732771..34734494-chr6:34760287..34763087,2	K562	blood:
46	chr6:34835870..34838689-chr6:34843706..34845674,2	K562	blood:
47	chr6:34878922..34882866-chr6:34883896..34887915,4	MCF-7	breast:
48	chr6:34203408..34205869-chr6:34858444..34860576,2	K562	blood:
49	chr6:34759998..34762126-chr6:34777640..34780581,3	MCF-7	breast:
50	chr6:34779065..34780836-chr6:34797089..34799244,2	K562	blood:

No data

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

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

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

Extended variants
information (count: 5875 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:5875 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9462014	chr6:34728253-34728254	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550445550	chr6:34728286-34728287	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs191167270	chr6:34728339-34728340	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs533450305	chr6:34728340-34728341	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs532863884	chr6:34728355-34728356	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs547973868	chr6:34728412-34728413	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs566295367	chr6:34728447-34728448	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs527331589	chr6:34728495-34728496	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536340019	chr6:34728537-34728538	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376681277	chr6:34728551-34728552	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548348368	chr6:34728568-34728569	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs569632918	chr6:34728578-34728579	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536598829	chr6:34728606-34728607	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs547042224	chr6:34728626-34728627	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs58737173	chr6:34728666-34728667	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs397956696	chr6:34728675-34728676	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs148621757	chr6:34728686-34728687	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377390328	chr6:34728695-34728696	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534625704	chr6:34728697-34728698	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs112826162	chr6:34728735-34728736	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
21	rs181817085	chr6:34728789-34728790	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549688448	chr6:34728813-34728814	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542702775	chr6:34728833-34728834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs202046084	chr6:34728835-34728836	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185399390	chr6:34728864-34728865	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs372191557	chr6:34728889-34728890	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs28461981	chr6:34728983-34728984	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576483121	chr6:34729033-34729034	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543409359	chr6:34729035-34729036	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147438477	chr6:34729037-34729038	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190596038	chr6:34729042-34729043	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs139748513	chr6:34729057-34729058	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs369655685	chr6:34729062-34729063	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538550526	chr6:34729063-34729064	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs145250393	chr6:34729074-34729075	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530368135	chr6:34729078-34729079	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183298001	chr6:34729112-34729113	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs114863007	chr6:34729158-34729159	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs147602809	chr6:34729161-34729162	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7341329	chr6:34729162-34729163	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs369877975	chr6:34729164-34729165	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs570142411	chr6:34729189-34729190	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs149809466	chr6:34729204-34729205	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs552888412	chr6:34729207-34729208	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs186505315	chr6:34729233-34729234	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535224101	chr6:34729249-34729250	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77644937	chr6:34729294-34729295	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557127482	chr6:34729314-34729315	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9380462	chr6:34729317-34729318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576423134	chr6:34729320-34729321	Weak transcription Strong transcription Enhancers	n/a	n/a	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:4746 , 50 per page) page: 1 2 3 4 5 6 7 ... 95

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34725800-34729600	Weak transcription	Aorta	Aorta
2	chr6:34726000-34729000	Weak transcription	Fetal Kidney	kidney
3	chr6:34726000-34729200	Weak transcription	Ovary	ovary
4	chr6:34726000-34730400	Weak transcription	Psoas Muscle	Psoas
5	chr6:34726000-34731000	Weak transcription	Gastric	stomach
6	chr6:34726000-34747800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:34726000-34750000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:34726200-34729000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:34726200-34729400	Weak transcription	Right Atrium	heart
10	chr6:34726200-34729600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr6:34726200-34729600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:34726200-34729600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr6:34726200-34729800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:34726200-34729800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:34726200-34729800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr6:34726200-34729800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:34726200-34729800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr6:34726200-34729800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:34726200-34729800	Weak transcription	Thymus	Thymus
20	chr6:34726200-34729800	Weak transcription	HSMMtube	muscle
21	chr6:34726200-34730000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:34726200-34730200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:34726200-34730200	Weak transcription	Brain Anterior Caudate	brain
24	chr6:34726200-34730400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr6:34726200-34730400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr6:34726200-34730400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:34726200-34730400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:34726200-34730400	Weak transcription	NHDF-Ad	bronchial
29	chr6:34726200-34732600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:34726200-34732800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:34726200-34732800	Weak transcription	NH-A	brain
32	chr6:34726200-34733400	Weak transcription	Left Ventricle	heart
33	chr6:34726200-34734200	Weak transcription	Esophagus	oesophagus
34	chr6:34726200-34734400	Weak transcription	Brain Angular Gyrus	brain
35	chr6:34726200-34734400	Weak transcription	Colonic Mucosa	Colon
36	chr6:34726200-34736200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:34726200-34738000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:34726200-34739600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr6:34726400-34728800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:34726400-34729000	Weak transcription	Lung	lung
41	chr6:34726400-34729400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:34726400-34729600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:34726400-34729600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:34726400-34729600	Weak transcription	Colon Smooth Muscle	Colon
45	chr6:34726400-34729600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr6:34726400-34729600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:34726400-34729800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:34726400-34729800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:34726400-34730400	Weak transcription	Brain Hippocampus Middle	brain
50	chr6:34726400-34730400	Weak transcription	Brain Substantia Nigra	brain

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