Variant report

Variant	nsv538112
Chromosome Location	chr6:5066785-5128943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1204)
CpG islands
(count:1709)
Chromatin interactive
region (count:54)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1204 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:5119334-5119631	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:5115186-5115868	HepG2	liver:	n/a	n/a
3	ARID3A	chr6:5082585-5083262	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:5078568-5078756	K562	blood:	n/a	n/a
5	ARID3A	chr6:5068153-5068988	HepG2	liver:	n/a	n/a
6	ARID3A	chr6:5121891-5122113	HepG2	liver:	n/a	n/a
7	ARID3A	chr6:5078549-5078855	HepG2	liver:	n/a	n/a
8	ARID3A	chr6:5080593-5081453	HepG2	liver:	n/a	n/a
9	ATF1	chr6:5078579-5078864	K562	blood:	n/a	n/a
10	BACH1	chr6:5105430-5105465	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr6:5087840-5088025	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr6:5084599-5084807	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr6:5086627-5086879	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr6:5085023-5085434	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr6:5090909-5091183	GM12878	blood:	n/a	n/a
16	BATF	chr6:5070104-5070318	GM12878	blood:	n/a	n/a
17	BATF	chr6:5090845-5091213	GM12878	blood:	n/a	n/a
18	BCLAF1	chr6:5095405-5095769	GM12878	blood:	n/a	n/a
19	BHLHE40	chr6:5082948-5083208	K562	blood:	n/a	n/a
20	BHLHE40	chr6:5125414-5125753	HepG2	liver:	n/a	n/a
21	BHLHE40	chr6:5084524-5085406	GM12878	blood:	n/a	chr6:5084890-5084906 chr6:5084923-5084939 chr6:5084823-5084839
22	BHLHE40	chr6:5082565-5083491	HepG2	liver:	n/a	n/a
23	BHLHE40	chr6:5084417-5084856	K562	blood:	n/a	chr6:5084823-5084839
24	BHLHE40	chr6:5068350-5068896	HepG2	liver:	n/a	chr6:5068537-5068553
25	BHLHE40	chr6:5107630-5107725	K562	blood:	n/a	n/a
26	BHLHE40	chr6:5119348-5119682	HepG2	liver:	n/a	n/a
27	BHLHE40	chr6:5115397-5115822	HepG2	liver:	n/a	n/a
28	BHLHE40	chr6:5085096-5085291	K562	blood:	n/a	n/a
29	BRCA1	chr6:5082745-5083172	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr6:5083101-5083226	HepG2	liver:	n/a	n/a
31	BRCA1	chr6:5068421-5068853	HepG2	liver:	n/a	chr6:5068421-5068428
32	BRCA1	chr6:5125610-5125688	HepG2	liver:	n/a	n/a
33	CBX3	chr6:5099654-5100216	HCT-116	colon:	n/a	n/a
34	CCNT2	chr6:5084526-5084904	K562	blood:	n/a	chr6:5084776-5084785 chr6:5084527-5084536
35	CEBPB	chr6:5082755-5083115	A549	lung:	n/a	n/a
36	CEBPB	chr6:5127574-5127880	H1-hESC	embryonic stem cell:	n/a	chr6:5127705-5127714 chr6:5127703-5127714 chr6:5127705-5127714 chr6:5127705-5127714
37	CEBPB	chr6:5068311-5068963	HepG2	liver:	n/a	n/a
38	CEBPB	chr6:5074315-5074563	HepG2	liver:	n/a	n/a
39	CEBPB	chr6:5066825-5067162	HepG2	liver:	n/a	n/a
40	CEBPB	chr6:5127540-5127896	IMR90	lung:	n/a	chr6:5127705-5127714 chr6:5127703-5127714 chr6:5127705-5127714 chr6:5127705-5127714
41	CEBPB	chr6:5082774-5083231	MCF-7	breast:	n/a	n/a
42	CEBPB	chr6:5082796-5083208	IMR90	lung:	n/a	n/a
43	CEBPB	chr6:5119814-5120031	K562	blood:	n/a	chr6:5119973-5119984
44	CEBPB	chr6:5096288-5096475	A549	lung:	n/a	chr6:5096389-5096400
45	CEBPB	chr6:5107364-5107684	K562	blood:	n/a	chr6:5107511-5107524 chr6:5107386-5107397
46	CEBPB	chr6:5115445-5115712	HepG2	liver:	n/a	n/a
47	CEBPB	chr6:5094534-5094992	IMR90	lung:	n/a	n/a
48	CEBPB	chr6:5127493-5127935	A549	lung:	n/a	chr6:5127705-5127714 chr6:5127703-5127714 chr6:5127705-5127714 chr6:5127705-5127714
49	CEBPB	chr6:5082732-5083230	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr6:5082904-5083118	HepG2	liver:	n/a	n/a

(count:1709 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:5087447-5087497	H1-hESC	embryonic stem cell:	embryo
2	chr6:5087447-5087497	H1-hESC	embryonic stem cell:	embryo
3	chr6:5085713-5085763	NT2-D1	testis:	n/a
4	chr6:5085586-5085636	NT2-D1	testis:	n/a
5	chr6:5067127-5067177	NH-A	brain:	n/a
6	chr6:5085713-5085763	NH-A	brain:	n/a
7	chr6:5110810-5110860	SAEC	small airway:	n/a
8	chr6:5066984-5067034	HRCEpiC	kidney:	n/a
9	chr6:5084855-5084905	Jurkat	blood:	n/a
10	chr6:5068684-5068734	HIPEpiC	eye:	n/a
11	chr6:5110810-5110860	Jurkat	blood:	n/a
12	chr6:5110810-5110860	NHDF-neo	bronchial:	n/a
13	chr6:5110768-5110818	GM06990	blood:	n/a
14	chr6:5085404-5085454	NB4	blood:	n/a
15	chr6:5066994-5067044	SK-N-MC	brain:	n/a
16	chr6:5110727-5110777	HEK293	kidney:	embryo
17	chr6:5085597-5085647	BE2_C	brain:	n/a
18	chr6:5087266-5087316	Hela-S3	cervix:	n/a
19	chr6:5085709-5085759	HRCEpiC	kidney:	n/a
20	chr6:5085404-5085454	SK-N-SH_RA	brain:	n/a
21	chr6:5084517-5084567	HUVEC	blood vessel:	n/a
22	chr6:5110768-5110818	RPTEC	kidney:	n/a
23	chr6:5085713-5085763	AoSMC	blood vessel:	n/a
24	chr6:5084338-5084388	PFSK-1	brain:	n/a
25	chr6:5085986-5086036	CMK	blood:	n/a
26	chr6:5068684-5068734	AG09309	skin:	n/a
27	chr6:5087447-5087497	HAEpiC	amniotic membrane:	n/a
28	chr6:5085597-5085647	NHDF-neo	bronchial:	n/a
29	chr6:5067127-5067177	ProgFib	skin:	n/a
30	chr6:5067127-5067177	ovcar-3	ovarian:	n/a
31	chr6:5085177-5085227	A549	lung:	n/a
32	chr6:5108925-5108975	GM19239	blood:	n/a
33	chr6:5085586-5085636	HL-60	blood:	n/a
34	chr6:5091024-5091074	CMK	blood:	n/a
35	chr6:5110727-5110777	AG09309	skin:	n/a
36	chr6:5091024-5091074	PFSK-1	brain:	n/a
37	chr6:5085586-5085636	MCF10A-Er-Src	breast:	n/a
38	chr6:5087266-5087316	MCF10A-Er-Src	breast:	n/a
39	chr6:5087266-5087316	PANC-1	pancreas:	n/a
40	chr6:5091024-5091074	T-47D	breast:	n/a
41	chr6:5087604-5087654	GM12891	blood:	n/a
42	chr6:5110768-5110818	GM12891	blood:	n/a
43	chr6:5086610-5086660	HCM	heart:	n/a
44	chr6:5084855-5084905	SAEC	small airway:	n/a
45	chr6:5087604-5087654	GM12878	blood:	n/a
46	chr6:5085986-5086036	BJ	skin:	n/a
47	chr6:5087266-5087316	LNCaP	prostate:	n/a
48	chr6:5085709-5085759	HL-60	blood:	n/a
49	chr6:5066984-5067034	IMR90	lung:	fetal
50	chr6:5082456-5082506	Hela-S3	cervix:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:5097583..5100078-chr6:5104838..5106377,2	MCF-7	breast:
2	chr6:5104035..5107580-chr6:5108547..5111180,4	K562	blood:
3	chr6:5077831..5080462-chr6:5082551..5084098,2	K562	blood:
4	chr6:5105213..5106771-chr6:5107964..5109478,2	MCF-7	breast:
5	chr6:5082094..5085573-chr6:5086074..5088451,3	K562	blood:
6	chr6:5098062..5100879-chr6:5101823..5104582,2	K562	blood:
7	chr6:5072255..5076149-chr6:5080723..5083422,4	K562	blood:
8	chr6:5080171..5082939-chr6:5089292..5092079,2	MCF-7	breast:
9	chr6:5067420..5070838-chr6:5082550..5086486,3	MCF-7	breast:
10	chr6:5067584..5069589-chr6:5073200..5075622,2	MCF-7	breast:
11	chr20:54974496..54974996-chr6:5096989..5097579,2	MCF-7	breast:
12	chr6:5082094..5085573-chr6:5086074..5088451,3	K562	blood:
13	chr6:5083037..5085353-chr6:5088863..5093171,5	MCF-7	breast:
14	chr6:5095410..5098025-chr6:5107266..5109190,2	MCF-7	breast:
15	chr6:5079080..5082683-chr6:5086665..5090602,4	K562	blood:
16	chr6:5083037..5085353-chr6:5088863..5093171,5	MCF-7	breast:
17	chr6:5094149..5096887-chr6:5098967..5101711,2	K562	blood:
18	chr6:5077831..5080462-chr6:5082551..5084098,2	K562	blood:
19	chr6:5122792..5124780-chr6:5175533..5177529,2	K562	blood:
20	chr6:5095410..5098025-chr6:5107266..5109190,2	MCF-7	breast:
21	chr6:5120295..5122743-chr6:5128225..5130886,2	K562	blood:
22	chr6:5081137..5084088-chr6:5116635..5118182,2	MCF-7	breast:
23	chr6:5003955..5004746-chr6:5115149..5116003,2	MCF-7	breast:
24	chr6:5128862..5130386-chr6:5130746..5132624,2	MCF-7	breast:
25	chr6:5127863..5130262-chr6:5130586..5132719,2	K562	blood:
26	chr6:5119211..5120955-chr6:5124804..5127728,2	K562	blood:
27	chr6:5119211..5120955-chr6:5124804..5127728,2	K562	blood:
28	chr6:5079785..5081381-chr6:5089374..5091355,2	MCF-7	breast:
29	chr6:5082435..5084667-chr6:5094252..5095807,2	K562	blood:
30	chr6:5078527..5079328-chr6:5115126..5116009,5	MCF-7	breast:
31	chr6:5056626..5057929-chr6:5115101..5116066,9	MCF-7	breast:
32	chr6:5094149..5096887-chr6:5098967..5101711,2	K562	blood:
33	chr6:5120295..5122743-chr6:5128225..5130886,2	K562	blood:
34	chr6:5079080..5082683-chr6:5086665..5090602,4	K562	blood:
35	chr6:5120935..5125341-chr6:5126554..5131441,5	K562	blood:
36	chr17:79479335..79479899-chr6:5082111..5082684,2	Hela-S3	cervix:
37	chr6:5091491..5094121-chr6:5097856..5100498,2	K562	blood:
38	chr6:5079785..5081381-chr6:5089374..5091355,2	MCF-7	breast:
39	chr6:5120935..5125341-chr6:5126554..5131441,5	K562	blood:
40	chr6:5084372..5086440-chr6:5103162..5105307,2	MCF-7	breast:
41	chr6:5072255..5076149-chr6:5080723..5083422,4	K562	blood:
42	chr6:5067584..5069589-chr6:5073200..5075622,2	MCF-7	breast:
43	chr6:5057040..5058030-chr6:5115128..5116001,3	MCF-7	breast:
44	chr6:5091491..5094121-chr6:5097856..5100498,2	K562	blood:
45	chr6:5087646..5089751-chr6:5090189..5093057,2	K562	blood:
46	chr6:5109410..5110934-chr6:5113324..5116153,2	K562	blood:
47	chr6:5087646..5089751-chr6:5090189..5093057,2	K562	blood:
48	chr6:5078527..5079328-chr6:5115126..5116009,5	MCF-7	breast:
49	chr6:5097583..5100078-chr6:5104838..5106377,2	MCF-7	breast:
50	chr6:5080171..5082939-chr6:5089292..5092079,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LYRM4-2	chr6:5066029-5067216	NONHSAT107511
2	lnc-PPP1R3G-1	chr6:5072827-5072968	ENSG00000251561

No data

Variant related genes	Relation type
PPP1R3G	TF binding region
ENSG00000220685	TF binding region
LYRM4	TF binding region
PPP1R3G	CpG island
ENSG00000220685	CpG island
LYRM4	CpG island
ENSG00000124787	chromatin interactions
ENSG00000184009	chromatin interactions
ENSG00000219607	chromatin interactions
ENSG00000214113	chromatin interactions
ARPC5	miRNA target sites

Extended variants
information (count: 2577 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:2577 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138308171	chr6:5066832-5066833	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs540239339	chr6:5066846-5066847	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs111675185	chr6:5066849-5066850	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs190712948	chr6:5066885-5066886	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs550655247	chr6:5066886-5066887	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs569049328	chr6:5066955-5066956	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs533331222	chr6:5066963-5066964	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs375835139	chr6:5066979-5066980	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs551584719	chr6:5067006-5067007	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
10	rs566795075	chr6:5067017-5067018	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs534522949	chr6:5067067-5067068	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
12	rs374729923	chr6:5067073-5067074	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
13	rs552653388	chr6:5067086-5067087	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
14	rs145176188	chr6:5067093-5067094	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
15	rs535152562	chr6:5067124-5067125	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
16	rs557083486	chr6:5067127-5067128	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
17	rs182921867	chr6:5067165-5067166	Enhancers Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
18	rs9502264	chr6:5067201-5067202	ZNF genes & repeats Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558008393	chr6:5067219-5067220	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573020789	chr6:5067223-5067224	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186553464	chr6:5067235-5067236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561878304	chr6:5067236-5067237	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573967708	chr6:5067251-5067252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544231163	chr6:5067272-5067273	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4560685	chr6:5067324-5067325	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs138961516	chr6:5067339-5067340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73717639	chr6:5067408-5067409	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560745387	chr6:5067421-5067422	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs190952536	chr6:5067457-5067458	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549650221	chr6:5067510-5067511	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs368067491	chr6:5067523-5067524	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs567907238	chr6:5067525-5067526	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs535415169	chr6:5067526-5067527	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs374690423	chr6:5067584-5067585	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs146319673	chr6:5067613-5067614	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs116430135	chr6:5067641-5067642	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs568948690	chr6:5067655-5067656	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs368990852	chr6:5067668-5067669	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs76565252	chr6:5067695-5067696	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs572999597	chr6:5067711-5067712	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs115940939	chr6:5067765-5067766	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs6902237	chr6:5067810-5067811	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs555618078	chr6:5067873-5067874	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs148119706	chr6:5067890-5067891	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs544170364	chr6:5067919-5067920	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs562558201	chr6:5068011-5068012	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs182490135	chr6:5068012-5068013	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs530725974	chr6:5068014-5068015	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs187833689	chr6:5068054-5068055	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs192175888	chr6:5068112-5068113	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1171 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5062000-5067000	Weak transcription	Fetal Intestine Small	intestine
2	chr6:5063000-5067600	Weak transcription	Liver	Liver
3	chr6:5064200-5067000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:5064400-5067400	Weak transcription	HepG2	liver
5	chr6:5065400-5067000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:5067000-5067200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:5067000-5067400	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr6:5067200-5067800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:5067200-5068600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:5067400-5067800	ZNF genes & repeats	Brain Hippocampus Middle	brain
11	chr6:5067400-5068200	Enhancers	HepG2	liver
12	chr6:5067400-5074000	Weak transcription	Ovary	ovary
13	chr6:5067600-5068800	Enhancers	Liver	Liver
14	chr6:5067800-5071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:5068000-5068600	Weak transcription	Fetal Intestine Small	intestine
16	chr6:5068200-5068800	Enhancers	Fetal Intestine Large	intestine
17	chr6:5068200-5069000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:5068200-5069000	Flanking Active TSS	HepG2	liver
19	chr6:5068600-5068800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:5068800-5074200	Weak transcription	Fetal Intestine Large	intestine
21	chr6:5069000-5073000	Enhancers	HepG2	liver
22	chr6:5070800-5071000	Weak transcription	Fetal Intestine Small	intestine
23	chr6:5071000-5071800	Enhancers	Fetal Intestine Small	intestine
24	chr6:5071200-5073000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:5071800-5082400	Weak transcription	Fetal Intestine Small	intestine
26	chr6:5072200-5073400	Enhancers	GM12878-XiMat	blood
27	chr6:5073000-5073600	Weak transcription	HepG2	liver
28	chr6:5073600-5075200	Enhancers	HepG2	liver
29	chr6:5074000-5074200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr6:5074000-5074200	ZNF genes & repeats	Ovary	ovary
31	chr6:5074200-5074600	Weak transcription	Ovary	ovary
32	chr6:5074200-5074800	Enhancers	Fetal Intestine Large	intestine
33	chr6:5074200-5081600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:5075200-5076200	Weak transcription	HepG2	liver
35	chr6:5075400-5082600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr6:5076200-5077000	Enhancers	HepG2	liver
37	chr6:5076800-5077600	Enhancers	Spleen	Spleen
38	chr6:5077000-5078600	Weak transcription	HepG2	liver
39	chr6:5077600-5082800	Weak transcription	Spleen	Spleen
40	chr6:5078600-5080400	Enhancers	HepG2	liver
41	chr6:5078800-5079000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:5080000-5080200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:5080000-5084800	Enhancers	NHDF-Ad	bronchial
44	chr6:5080400-5085400	Flanking Active TSS	HepG2	liver
45	chr6:5080600-5082600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:5080600-5083400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:5080600-5083800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:5080800-5082000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:5080800-5083400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:5081000-5084400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links