Variant report

Variant	esv3360151
Chromosome Location	chr1:147070528-147073326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:147070877-147072124	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr1:147071282-147072158	GM12878	blood:	n/a	chr1:147071575-147071591
3	BHLHE40	chr1:147070970-147072421	HepG2	liver:	n/a	chr1:147071575-147071591
4	BHLHE40	chr1:147071172-147071951	K562	blood:	n/a	chr1:147071575-147071591
5	CCNT2	chr1:147070888-147072187	K562	blood:	n/a	chr1:147072143-147072152 chr1:147071567-147071576 chr1:147072149-147072158
6	CEBPB	chr1:147072520-147072924	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr1:147072618-147072789	HepG2	liver:	n/a	n/a
8	CEBPB	chr1:147073316-147073504	K562	blood:	n/a	chr1:147073399-147073412 chr1:147073399-147073410 chr1:147073400-147073411 chr1:147073401-147073410
9	CEBPB	chr1:147072490-147072910	IMR90	lung:	n/a	n/a
10	CEBPB	chr1:147073266-147073532	HepG2	liver:	n/a	chr1:147073399-147073412 chr1:147073399-147073410 chr1:147073400-147073411 chr1:147073401-147073410
11	CEBPD	chr1:147071283-147071498	HepG2	liver:	n/a	n/a
12	CEBPD	chr1:147071178-147071511	HepG2	liver:	n/a	n/a
13	CEBPD	chr1:147071587-147072200	HepG2	liver:	n/a	n/a
14	CHD1	chr1:147071496-147072159	GM12878	blood:	n/a	chr1:147071568-147071578 chr1:147071626-147071636 chr1:147071762-147071772 chr1:147071578-147071588
15	CHD1	chr1:147071585-147071786	H1-hESC	embryonic stem cell:	n/a	chr1:147071626-147071636 chr1:147071762-147071772
16	CHD1	chr1:147070600-147070698	GM12878	blood:	n/a	n/a
17	CHD1	chr1:147070383-147072260	IMR90	lung:	n/a	chr1:147071568-147071578 chr1:147071626-147071636 chr1:147071762-147071772 chr1:147071578-147071588 chr1:147071268-147071275
18	CHD1	chr1:147070925-147071284	GM12878	blood:	n/a	chr1:147071268-147071275
19	CHD2	chr1:147071083-147072728	Hela-S3	cervix:	n/a	chr1:147071568-147071578 chr1:147072323-147072333 chr1:147071626-147071636 chr1:147071762-147071772 chr1:147071578-147071588 chr1:147071268-147071275
20	CHD2	chr1:147071137-147072314	HepG2	liver:	n/a	chr1:147071568-147071578 chr1:147071626-147071636 chr1:147071762-147071772 chr1:147071578-147071588 chr1:147071268-147071275
21	CHD2	chr1:147071076-147071496	K562	blood:	n/a	chr1:147071268-147071275
22	CHD2	chr1:147072641-147072764	HepG2	liver:	n/a	n/a
23	CHD2	chr1:147070846-147072327	GM12878	blood:	n/a	chr1:147071568-147071578 chr1:147071626-147071636 chr1:147071762-147071772 chr1:147071578-147071588 chr1:147071268-147071275
24	CHD2	chr1:147072404-147072620	K562	blood:	n/a	n/a
25	CHD2	chr1:147071119-147071570	H1-hESC	embryonic stem cell:	n/a	chr1:147071268-147071275
26	CHD2	chr1:147072034-147072579	H1-hESC	embryonic stem cell:	n/a	chr1:147072323-147072333
27	CHD2	chr1:147071960-147072157	K562	blood:	n/a	n/a
28	CREB1	chr1:147071234-147072029	A549	lung:	n/a	n/a
29	CREB1	chr1:147070784-147072309	HepG2	liver:	n/a	n/a
30	CREB1	chr1:147071226-147072189	GM12878	blood:	n/a	n/a
31	CREB1	chr1:147071274-147072065	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr1:147071708-147071794	Lung_OC	lung:	n/a	n/a
33	CTCF	chr1:147071999-147072080	HepG2	liver:	n/a	n/a
34	CTCF	chr1:147071938-147072082	GM13976	blood:	n/a	n/a
35	CTCF	chr1:147071920-147072070	WERI-Rb-1	eye:	n/a	n/a
36	CTCF	chr1:147071899-147072183	T-47D	breast:	n/a	chr1:147072134-147072147
37	CTCF	chr1:147071906-147072111	Fibrobl	skin:	n/a	n/a
38	CTCF	chr1:147071818-147072168	K562	blood:	n/a	chr1:147072134-147072147
39	CTCF	chr1:147071900-147072047	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr1:147071900-147072050	GM12868	blood:	n/a	n/a
41	CTCF	chr1:147071935-147072058	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:147071920-147072070	GM12873	blood:	n/a	n/a
43	CTCF	chr1:147071977-147072044	Medullo	brain:	n/a	n/a
44	CTCF	chr1:147071880-147072030	GM12871	blood:	n/a	n/a
45	CTCF	chr1:147071900-147072050	GM12873	blood:	n/a	n/a
46	CTCF	chr1:147071940-147072090	GM12867	blood:	n/a	n/a
47	CTCF	chr1:147071880-147072030	GM12869	blood:	n/a	n/a
48	CTCF	chr1:147071704-147072184	K562	blood:	n/a	chr1:147072134-147072147
49	CTCF	chr1:147071919-147072102	A549	lung:	n/a	n/a
50	CTCF	chr1:147070858-147070934	Fibrobl	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:147070522-147070572	PANC-1	pancreas:	n/a
2	chr1:147070522-147070572	HRE	kidney:	n/a
3	chr1:147070522-147070572	PANC-1	pancreas:	n/a
4	chr1:147070522-147070572	HRE	kidney:	n/a
5	chr1:147071743-147071793	PFSK-1	brain:	n/a
6	chr1:147071403-147071453	HRCEpiC	kidney:	n/a
7	chr1:147071403-147071453	PFSK-1	brain:	n/a
8	chr1:147071403-147071453	HNPCEpiC	eye:	n/a
9	chr1:147070943-147070993	HRE	kidney:	n/a
10	chr1:147071403-147071453	AG09309	skin:	n/a
11	chr1:147071743-147071793	H1-hESC	embryonic stem cell:	embryo
12	chr1:147070943-147070993	BE2_C	brain:	n/a
13	chr1:147071766-147071816	AG10803	skin:	n/a
14	chr1:147070522-147070572	RPTEC	kidney:	n/a
15	chr1:147071537-147071587	HepG2	liver:	n/a
16	chr1:147072213-147072263	ECC-1	luminal epithelium:	n/a
17	chr1:147071743-147071793	RPTEC	kidney:	n/a
18	chr1:147070943-147070993	Caco-2	colon:	n/a
19	chr1:147071403-147071453	ECC-1	luminal epithelium:	n/a
20	chr1:147071766-147071816	H1-hESC	embryonic stem cell:	embryo
21	chr1:147070522-147070572	HRPEpiC	eye:	n/a
22	chr1:147071403-147071453	HCF	heart:	n/a
23	chr1:147071766-147071816	GM12892	blood:	n/a
24	chr1:147071403-147071453	AG04450	lung:	fetal
25	chr1:147072213-147072263	AoSMC	blood vessel:	n/a
26	chr1:147070522-147070572	HIPEpiC	eye:	n/a
27	chr1:147070522-147070572	MCF-7	breast:	n/a
28	chr1:147071403-147071453	LNCaP	prostate:	n/a
29	chr1:147070522-147070572	NHDF-neo	bronchial:	n/a
30	chr1:147071537-147071587	AG09319	gingival:	n/a
31	chr1:147070943-147070993	AG04450	lung:	fetal
32	chr1:147071743-147071793	SK-N-MC	brain:	n/a
33	chr1:147072213-147072263	HCPEpiC	choroid plexus:	n/a
34	chr1:147070522-147070572	HepG2	liver:	n/a
35	chr1:147070522-147070572	AG10803	skin:	n/a
36	chr1:147070522-147070572	GM12891	blood:	n/a
37	chr1:147070943-147070993	ovcar-3	ovarian:	n/a
38	chr1:147070522-147070572	HCM	heart:	n/a
39	chr1:147071537-147071587	HIPEpiC	eye:	n/a
40	chr1:147071403-147071453	CMK	blood:	n/a
41	chr1:147072213-147072263	MCF10A-Er-Src	breast:	n/a
42	chr1:147071403-147071453	HCT-116	colon:	n/a
43	chr1:147071766-147071816	MCF-7	breast:	n/a
44	chr1:147070522-147070572	HAEpiC	amniotic membrane:	n/a
45	chr1:147071766-147071816	K562	blood:	n/a
46	chr1:147071537-147071587	SK-N-SH	brain:	n/a
47	chr1:147070943-147070993	BJ	skin:	n/a
48	chr1:147070522-147070572	AG04449	skin:	fetal
49	chr1:147070522-147070572	ProgFib	skin:	n/a
50	chr1:147072213-147072263	PANC-1	pancreas:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:147050198..147052278-chr1:147069069..147071118,3	MCF-7	breast:
2	chr1:147073272..147074868-chr1:147098478..147100089,2	MCF-7	breast:
3	chr1:147008733..147014706-chr1:147069097..147075030,9	MCF-7	breast:
4	chr1:147011744..147014234-chr1:147070783..147073063,3	K562	blood:
5	chr1:147011744..147014234-chr1:147070783..147072314,2	K562	blood:
6	chr1:147053305..147055800-chr1:147069628..147071755,2	K562	blood:
7	chr1:147070010..147071633-chr1:147096547..147098261,2	MCF-7	breast:
8	chr1:147071549..147073575-chr1:147083227..147085780,2	K562	blood:
9	chr1:147012761..147015831-chr1:147068894..147072363,4	MCF-7	breast:
10	chr1:146985951..146991555-chr1:147068919..147074935,7	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJA8-4	chr1:147071988-147072129	NONHSAT006038

Variant related genes	Relation type
BCL9	TF binding region
BCL9	CpG island
ENSG00000116128	chromatin interactions
ENSG00000234610	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587673746	chr1:147070544-147070545	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs117105722	chr1:147070554-147070555	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs587630401	chr1:147070603-147070604	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs587685876	chr1:147070604-147070605	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs7526407	chr1:147070609-147070610	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs587613618	chr1:147070664-147070665	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs587689306	chr1:147070700-147070701	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs149571372	chr1:147070713-147070714	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs144229015	chr1:147070721-147070722	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs113085271	chr1:147070727-147070728	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs147367912	chr1:147070769-147070770	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs587776231	chr1:147070773-147070774	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs587666195	chr1:147070818-147070819	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs373053922	chr1:147070939-147070940	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs207460423	chr1:147070953-147070954	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs587742076	chr1:147070964-147070965	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs587615361	chr1:147070967-147070968	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs376090523	chr1:147070974-147070975	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs373561895	chr1:147071023-147071024	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs587654668	chr1:147071029-147071030	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs113320857	chr1:147071069-147071070	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs587596455	chr1:147071097-147071098	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs587665821	chr1:147071120-147071121	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs587732705	chr1:147071153-147071154	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs587606328	chr1:147071190-147071191	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs184639630	chr1:147071213-147071214	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs377536984	chr1:147071222-147071223	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs587741045	chr1:147071223-147071224	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs187529869	chr1:147071268-147071269	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs201739471	chr1:147071280-147071281	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs199922173	chr1:147071282-147071283	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs201159735	chr1:147071283-147071284	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs34799247	chr1:147071286-147071287	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs68131066	chr1:147071287-147071288	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs35428984	chr1:147071290-147071291	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs11240092	chr1:147071308-147071309	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs148704937	chr1:147071359-147071360	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs587775255	chr1:147071362-147071363	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs184494997	chr1:147071393-147071394	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs587721549	chr1:147071454-147071455	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs587755459	chr1:147071488-147071489	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs142356332	chr1:147071507-147071508	Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs112157176	chr1:147071586-147071587	Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs587633060	chr1:147071643-147071644	Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs115058963	chr1:147071696-147071697	Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs28545543	chr1:147071855-147071856	Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs28735379	chr1:147071858-147071859	Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs587597970	chr1:147071860-147071861	Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs587652876	chr1:147071893-147071894	Active TSS Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs587705988	chr1:147072012-147072013	Active TSS Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:140)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147064200-147070600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:147069400-147070600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:147069800-147070600	Flanking Active TSS	Colon Smooth Muscle	Colon
4	chr1:147069800-147071200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:147070000-147070800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
6	chr1:147070000-147072400	Active TSS	Stomach Smooth Muscle	stomach
7	chr1:147070200-147070600	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
8	chr1:147070200-147070600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
9	chr1:147070200-147070600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
10	chr1:147070200-147070600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
11	chr1:147070200-147070600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:147070200-147070600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr1:147070200-147070600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
14	chr1:147070200-147070600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:147070200-147070600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:147070200-147070600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:147070200-147070600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:147070200-147070600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:147070200-147070600	Flanking Active TSS	Fetal Lung	lung
20	chr1:147070200-147070600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
21	chr1:147070200-147070600	Bivalent/Poised TSS	Osteobl	bone
22	chr1:147070200-147070800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
23	chr1:147070200-147070800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:147070200-147070800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:147070200-147070800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr1:147070200-147070800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr1:147070200-147070800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:147070200-147070800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:147070200-147070800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:147070200-147070800	Flanking Active TSS	Fetal Brain Male	brain
31	chr1:147070200-147070800	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr1:147070200-147070800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr1:147070200-147071000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:147070200-147071000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr1:147070200-147071000	Flanking Active TSS	Fetal Brain Female	brain
36	chr1:147070200-147071200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr1:147070200-147071200	Flanking Active TSS	Liver	Liver
38	chr1:147070200-147071200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr1:147070200-147071400	Active TSS	Primary T cells from cord blood	blood
40	chr1:147070200-147072400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:147070200-147072400	Active TSS	Brain Angular Gyrus	brain
42	chr1:147070200-147072400	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:147070200-147072400	Active TSS	Psoas Muscle	Psoas
44	chr1:147070200-147073000	Active TSS	Right Atrium	heart
45	chr1:147070200-147073200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr1:147070200-147073600	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr1:147070400-147070600	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:147070400-147070600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:147070400-147070600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:147070400-147070600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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