Variant report

Variant	esv3512116
Chromosome Location	chr10:22628355-22629590
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	ARID3A	chr10:22629054-22629485	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:22628906-22629487	K562	blood:	n/a	n/a
3	ATF1	chr10:22629061-22629446	K562	blood:	n/a	n/a
4	ATF2	chr10:22629003-22629611	GM12878	blood:	n/a	n/a
5	ATF2	chr10:22629006-22629577	GM12878	blood:	n/a	n/a
6	BACH1	chr10:22629132-22629688	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr10:22629133-22629972	GM12878	blood:	n/a	chr10:22629788-22629797 chr10:22629529-22629542
8	BHLHE40	chr10:22628935-22629467	K562	blood:	n/a	n/a
9	BHLHE40	chr10:22629257-22629490	HepG2	liver:	n/a	n/a
10	BHLHE40	chr10:22629031-22630241	GM12878	blood:	n/a	chr10:22629781-22629797 chr10:22629607-22629623 chr10:22629882-22629898
11	BRCA1	chr10:22628909-22629455	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr10:22629269-22629450	HepG2	liver:	n/a	n/a
13	CBX3	chr10:22629001-22629711	K562	blood:	n/a	n/a
14	CCNT2	chr10:22629104-22630607	K562	blood:	n/a	chr10:22629697-22629706
15	CEBPD	chr10:22628963-22630200	K562	blood:	n/a	n/a
16	CHD1	chr10:22628775-22629393	GM12878	blood:	n/a	n/a
17	CHD1	chr10:22629448-22629635	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD2	chr10:22629220-22629409	HepG2	liver:	n/a	n/a
19	CHD2	chr10:22629042-22629857	K562	blood:	n/a	chr10:22629793-22629800
20	CHD2	chr10:22628980-22629865	GM12878	blood:	n/a	chr10:22629793-22629800
21	CHD2	chr10:22629067-22630184	Hela-S3	cervix:	n/a	chr10:22629793-22629800
22	CREB1	chr10:22628978-22629522	HepG2	liver:	n/a	n/a
23	CREB1	chr10:22629141-22629421	A549	lung:	n/a	n/a
24	CREB1	chr10:22629103-22630375	A549	lung:	n/a	n/a
25	CREB1	chr10:22628987-22629459	ECC-1	luminal epithelium:	n/a	n/a
26	CREB1	chr10:22628799-22630178	K562	blood:	n/a	n/a
27	CREB1	chr10:22629127-22629567	ECC-1	luminal epithelium:	n/a	n/a
28	CREB1	chr10:22628914-22629614	GM12878	blood:	n/a	n/a
29	CREB1	chr10:22628990-22630192	GM12878	blood:	n/a	n/a
30	CREB1	chr10:22628998-22629621	K562	blood:	n/a	n/a
31	CREB1	chr10:22628999-22629537	H1-hESC	embryonic stem cell:	n/a	n/a
32	CREB1	chr10:22628972-22630341	HepG2	liver:	n/a	n/a
33	CTBP2	chr10:22629300-22630502	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr10:22629420-22629570	NHEK	skin:	n/a	n/a
35	CTCF	chr10:22629360-22629510	GM12875	blood:	n/a	n/a
36	CTCF	chr10:22628924-22629324	K562	blood:	n/a	n/a
37	CTCF	chr10:22629440-22629590	GM12868	blood:	n/a	n/a
38	CTCF	chr10:22629511-22629869	GM12878	blood:	n/a	chr10:22629718-22629731
39	CTCF	chr10:22629460-22629610	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr10:22629300-22629450	Caco-2	colon:	n/a	n/a
41	CUX1	chr10:22628745-22629563	GM12878	blood:	n/a	n/a
42	CUX1	chr10:22628976-22629523	K562	blood:	n/a	n/a
43	E2F4	chr10:22629204-22629580	MCF10A-Er-Src	breast:	n/a	chr10:22629294-22629303 chr10:22629258-22629267
44	E2F4	chr10:22629271-22630482	K562	blood:	n/a	chr10:22629574-22629584 chr10:22629294-22629303 chr10:22629793-22629800 chr10:22629780-22629790 chr10:22629646-22629655
45	E2F6	chr10:22629339-22630431	K562	blood:	n/a	chr10:22629574-22629584 chr10:22629793-22629800 chr10:22629780-22629790 chr10:22629646-22629655
46	E2F6	chr10:22629262-22629712	K562	blood:	n/a	chr10:22629574-22629584 chr10:22629294-22629303 chr10:22629646-22629655
47	E2F6	chr10:22629196-22629527	A549	lung:	n/a	chr10:22629294-22629303 chr10:22629258-22629267
48	E2F6	chr10:22628933-22629770	A549	lung:	n/a	chr10:22629574-22629584 chr10:22629294-22629303 chr10:22629258-22629267 chr10:22629646-22629655
49	EBF1	chr10:22628884-22629484	GM12878	blood:	n/a	chr10:22629066-22629075 chr10:22629065-22629076 chr10:22629066-22629076
50	EBF1	chr10:22628918-22629323	GM12878	blood:	n/a	chr10:22629066-22629075 chr10:22629065-22629076 chr10:22629066-22629076

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:22629361-22629411	H1-hESC	embryonic stem cell:	embryo
2	chr10:22629361-22629411	MCF-7	breast:	n/a
3	chr10:22629361-22629411	AoSMC	blood vessel:	n/a
4	chr10:22629361-22629411	AG10803	skin:	n/a
5	chr10:22629361-22629411	MCF10A-Er-Src	breast:	n/a
6	chr10:22629361-22629411	HCPEpiC	choroid plexus:	n/a
7	chr10:22629361-22629411	HRPEpiC	eye:	n/a
8	chr10:22629361-22629411	GM19239	blood:	n/a
9	chr10:22629361-22629411	BJ	skin:	n/a
10	chr10:22629361-22629411	AG09309	skin:	n/a
11	chr10:22629361-22629411	SKMC	muscle:	n/a
12	chr10:22629361-22629411	GM12892	blood:	n/a
13	chr10:22629361-22629411	HEEpiC	esophagus:	n/a
14	chr10:22629361-22629411	HCF	heart:	n/a
15	chr10:22629361-22629411	NT2-D1	testis:	n/a
16	chr10:22629361-22629411	HPAEpiC	pulmonary alveolar:	n/a
17	chr10:22629361-22629411	GM06990	blood:	n/a
18	chr10:22629361-22629411	HCT-116	colon:	n/a
19	chr10:22629361-22629411	Hela-S3	cervix:	n/a
20	chr10:22629361-22629411	HRCEpiC	kidney:	n/a
21	chr10:22629361-22629411	BE2_C	brain:	n/a
22	chr10:22629361-22629411	HEK293	kidney:	embryo
23	chr10:22629361-22629411	SK-N-MC	brain:	n/a
24	chr10:22629361-22629411	HIPEpiC	eye:	n/a
25	chr10:22629361-22629411	SK-N-SH_RA	brain:	n/a
26	chr10:22629361-22629411	HepG2	liver:	n/a
27	chr10:22629361-22629411	ovcar-3	ovarian:	n/a
28	chr10:22629361-22629411	Hepatocyte	liver:	n/a
29	chr10:22629361-22629411	GM12891	blood:	n/a
30	chr10:22629361-22629411	PANC-1	pancreas:	n/a
31	chr10:22629361-22629411	A549	lung:	n/a
32	chr10:22629361-22629411	HUVEC	blood vessel:	n/a
33	chr10:22629361-22629411	PrEC	prostate:	n/a
34	chr10:22629361-22629411	AG09319	gingival:	n/a
35	chr10:22629361-22629411	HNPCEpiC	eye:	n/a
36	chr10:22629361-22629411	IMR90	lung:	fetal
37	chr10:22629361-22629411	NHDF-neo	bronchial:	n/a
38	chr10:22629361-22629411	HMEC	breast:	n/a
39	chr10:22629361-22629411	HRE	kidney:	n/a
40	chr10:22629361-22629411	T-47D	breast:	n/a
41	chr10:22629361-22629411	AG04450	lung:	fetal
42	chr10:22629361-22629411	Jurkat	blood:	n/a
43	chr10:22629361-22629411	PFSK-1	brain:	n/a
44	chr10:22629361-22629411	ProgFib	skin:	n/a
45	chr10:22629361-22629411	NHBE	bronchial:	n/a
46	chr10:22629361-22629411	NH-A	brain:	n/a
47	chr10:22629361-22629411	SAEC	small airway:	n/a
48	chr10:22629361-22629411	U87	brain:	n/a
49	chr10:22629361-22629411	Caco-2	colon:	n/a
50	chr10:22629361-22629411	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:22629489..22630407-chr17:30676764..30677278,2	Hela-S3	cervix:
2	chr10:22626594..22629455-chr10:22675560..22678506,3	K562	blood:
3	chr10:22603818..22606688-chr10:22628346..22630666,3	MCF-7	breast:
4	chr10:22290966..22293742-chr10:22628058..22631636,3	MCF-7	breast:
5	chr10:22625398..22631647-chr10:22676300..22682265,8	K562	blood:
6	chr10:22626106..22628685-chr10:22802579..22804183,2	K562	blood:
7	chr10:22628696..22632444-chr10:22679412..22682265,6	K562	blood:
8	chr10:22628552..22630846-chr8:144350757..144353211,2	MCF-7	breast:
9	chr10:22608172..22617536-chr10:22624000..22632852,24	MCF-7	breast:
10	chr10:22629399..22631844-chr10:22647631..22650526,2	MCF-7	breast:
11	chr10:22627151..22628805-chr10:22841570..22843241,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIP4K2A-3	chr10:22629306-22629544	ENSG00000272366.1

Variant related genes	Relation type
SPAG6	TF binding region
ENSG00000272366	TF binding region
SPAG6	CpG island
ENSG00000272366	CpG island
ENSG00000168283	chromatin interactions
ENSG00000010244	chromatin interactions
ENSG00000250571	chromatin interactions
ENSG00000269897	chromatin interactions
ENSG00000108666	chromatin interactions
ENSG00000207928	chromatin interactions
ENSG00000077327	chromatin interactions
ENSG00000148444	chromatin interactions
ENSG00000233451	chromatin interactions
ENSG00000136770	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 37 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571011767	chr10:22628392-22628393	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs11012952	chr10:22628423-22628424	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs552027913	chr10:22628461-22628462	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs568921195	chr10:22628462-22628463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs12258156	chr10:22628489-22628490	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs554523777	chr10:22628557-22628558	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs75633431	chr10:22628564-22628565	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs568031323	chr10:22628574-22628575	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs371354251	chr10:22628590-22628591	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs533793841	chr10:22628645-22628646	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs553552407	chr10:22628658-22628659	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs181464128	chr10:22628688-22628689	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs545582263	chr10:22628689-22628690	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs374705998	chr10:22628733-22628734	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs186052965	chr10:22628735-22628736	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs34749449	chr10:22628810-22628811	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs12245533	chr10:22628822-22628823	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs562078588	chr10:22628839-22628840	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs527994940	chr10:22628867-22628868	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs76624164	chr10:22628897-22628898	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs12357461	chr10:22628901-22628902	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs140469116	chr10:22628906-22628907	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs533601982	chr10:22628919-22628920	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs550329114	chr10:22628920-22628921	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs144300448	chr10:22628982-22628983	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs578169557	chr10:22629011-22629012	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs571960520	chr10:22629089-22629090	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs191215688	chr10:22629091-22629092	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs563885632	chr10:22629113-22629114	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs567668556	chr10:22629114-22629115	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs34628894	chr10:22629124-22629125	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs533538368	chr10:22629149-22629150	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs183298786	chr10:22629168-22629169	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs575922414	chr10:22629192-22629193	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs75314408	chr10:22629235-22629236	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs570396190	chr10:22629241-22629242	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs186211567	chr10:22629273-22629274	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs202020522	chr10:22629275-22629276	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs546313169	chr10:22629313-22629314	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
40	rs368938891	chr10:22629315-22629316	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
41	rs143637543	chr10:22629319-22629320	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
42	rs556294740	chr10:22629369-22629370	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
43	rs11012953	chr10:22629414-22629415	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs146576431	chr10:22629417-22629418	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
45	rs542263255	chr10:22629468-22629469	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
46	rs11012954	chr10:22629471-22629472	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
47	rs116451841	chr10:22629473-22629474	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
48	rs541422430	chr10:22629544-22629545	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:37)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22619200-22628600	Weak transcription	Hela-S3	cervix
2	chr10:22626200-22629000	Weak transcription	Right Ventricle	heart
3	chr10:22626200-22629200	Weak transcription	Pancreas	Pancrea
4	chr10:22627200-22628600	Enhancers	K562	blood
5	chr10:22627400-22628400	Bivalent Enhancer	Dnd41	blood
6	chr10:22627600-22629000	Weak transcription	Aorta	Aorta
7	chr10:22628200-22628400	Bivalent/Poised TSS	Stomach Mucosa	stomach
8	chr10:22628200-22628600	Weak transcription	Psoas Muscle	Psoas
9	chr10:22628200-22628800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr10:22628200-22628800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr10:22628400-22628600	Bivalent Enhancer	GM12878-XiMat	blood
12	chr10:22628400-22628800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
13	chr10:22628400-22628800	Bivalent Enhancer	Brain Anterior Caudate	brain
14	chr10:22628400-22629200	Flanking Active TSS	Dnd41	blood
15	chr10:22628600-22628800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:22628600-22628800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr10:22628600-22628800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr10:22628600-22628800	Bivalent Enhancer	Primary B cells from cord blood	blood
19	chr10:22628600-22628800	Bivalent Enhancer	Primary T cells from cord blood	blood
20	chr10:22628600-22628800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr10:22628600-22628800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:22628600-22628800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:22628600-22628800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
24	chr10:22628600-22628800	Enhancers	Brain Hippocampus Middle	brain
25	chr10:22628600-22628800	Bivalent Enhancer	Colon Smooth Muscle	Colon
26	chr10:22628600-22628800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr10:22628600-22628800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
28	chr10:22628600-22628800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
29	chr10:22628600-22628800	Flanking Bivalent TSS/Enh	A549	lung
30	chr10:22628600-22628800	Enhancers	Hela-S3	cervix
31	chr10:22628600-22628800	Bivalent Enhancer	HepG2	liver
32	chr10:22628600-22629000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
33	chr10:22628600-22629000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr10:22628600-22629000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr10:22628600-22629000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
36	chr10:22628600-22629200	Flanking Active TSS	GM12878-XiMat	blood
37	chr10:22628600-22629200	Flanking Active TSS	K562	blood
38	chr10:22628800-22629000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:22628800-22629000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr10:22628800-22629000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr10:22628800-22629000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:22628800-22629000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:22628800-22629000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr10:22628800-22629000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr10:22628800-22629000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr10:22628800-22629000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
47	chr10:22628800-22629000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
48	chr10:22628800-22629000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr10:22628800-22629000	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr10:22628800-22629000	Bivalent Enhancer	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links