Variant report

Variant	esv3373736
Chromosome Location	chr9:95569656-95572504
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	chr9:95571290-95571757	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCLAF1	chr9:95571357-95571743	GM12878	blood:	n/a	n/a
3	BHLHE40	chr9:95571511-95571649	GM12878	blood:	n/a	chr9:95571539-95571555
4	BHLHE40	chr9:95571422-95571625	K562	blood:	n/a	chr9:95571539-95571555
5	BRCA1	chr9:95571272-95571377	H1-hESC	embryonic stem cell:	n/a	n/a
6	CBX3	chr9:95571325-95571829	K562	blood:	n/a	n/a
7	CCNT2	chr9:95571417-95571657	K562	blood:	n/a	n/a
8	CEBPB	chr9:95571476-95571607	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr9:95571468-95571643	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr9:95571478-95571516	K562	blood:	n/a	n/a
11	CHD2	chr9:95571131-95571593	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTBP2	chr9:95570714-95571790	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr9:95571194-95571225	GM13976	blood:	n/a	n/a
14	CTCF	chr9:95571460-95571610	GM12871	blood:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
15	CTCF	chr9:95571420-95571570	HAc	cerebellar:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
16	CTCF	chr9:95571460-95571610	BJ	skin:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
17	CTCF	chr9:95571440-95571590	SK-N-SH_RA	brain:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
18	CTCF	chr9:95571445-95571601	MCF-7	breast:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
19	CTCF	chr9:95571480-95571630	AG04449	skin:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
20	CTCF	chr9:95571040-95571190	GM12866	blood:	n/a	n/a
21	CTCF	chr9:95571144-95571263	Lung_OC	lung:	n/a	chr9:95571189-95571197 chr9:95571179-95571195
22	CTCF	chr9:95571365-95571703	IMR90	lung:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
23	CTCF	chr9:95571480-95571630	HPAF	blood vessel:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
24	CTCF	chr9:95571420-95571570	HCPEpiC	choroid plexus:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
25	CTCF	chr9:95571060-95571210	GM12873	blood:	n/a	chr9:95571189-95571197 chr9:95571179-95571195
26	CTCF	chr9:95571400-95571550	HCM	heart:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
27	CTCF	chr9:95571480-95571630	GM06990	blood:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
28	CTCF	chr9:95571480-95571630	HRPEpiC	eye:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
29	CTCF	chr9:95571480-95571630	HCFaa	heart:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
30	CTCF	chr9:95571160-95571310	MCF-7	breast:	n/a	chr9:95571189-95571197 chr9:95571179-95571195
31	CTCF	chr9:95571054-95571321	MCF-7	breast:	n/a	chr9:95571189-95571197 chr9:95571179-95571195
32	CTCF	chr9:95571062-95571314	GM19240	blood:	n/a	chr9:95571189-95571197 chr9:95571179-95571195
33	CTCF	chr9:95571120-95571270	SAEC	small airway:	n/a	chr9:95571189-95571197 chr9:95571179-95571195
34	CTCF	chr9:95571026-95571634	GM12878	blood:	n/a	chr9:95571189-95571197 chr9:95571520-95571538 chr9:95571179-95571195 chr9:95571522-95571535
35	CTCF	chr9:95571420-95571570	GM12871	blood:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
36	CTCF	chr9:95571140-95571290	SAEC	small airway:	n/a	chr9:95571189-95571197 chr9:95571179-95571195
37	CTCF	chr9:95571080-95571230	HEK293	kidney:	n/a	chr9:95571189-95571197 chr9:95571179-95571195
38	CTCF	chr9:95571045-95571333	MCF-7	breast:	n/a	chr9:95571189-95571197 chr9:95571179-95571195
39	CTCF	chr9:95571101-95571282	Pancreas_OC	pancreas:	n/a	chr9:95571189-95571197 chr9:95571179-95571195
40	CTCF	chr9:95571480-95571630	HCPEpiC	choroid plexus:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
41	CTCF	chr9:95571446-95571610	MCF-7	breast:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
42	CTCF	chr9:95571480-95571630	GM12873	blood:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
43	CTCF	chr9:95571064-95571289	H1-hESC	embryonic stem cell:	n/a	chr9:95571189-95571197 chr9:95571179-95571195
44	CTCF	chr9:95571031-95571302	GM19238	blood:	n/a	chr9:95571189-95571197 chr9:95571179-95571195
45	CTCF	chr9:95571200-95571350	GM12872	blood:	n/a	n/a
46	CTCF	chr9:95571140-95571290	HEK293	kidney:	n/a	chr9:95571189-95571197 chr9:95571179-95571195
47	CTCF	chr9:95571463-95571603	GM19240	blood:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
48	CTCF	chr9:95571460-95571610	HPF	lung:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
49	CTCF	chr9:95571440-95571590	HCT-116	colon:	n/a	chr9:95571520-95571538 chr9:95571522-95571535
50	CTCF	chr9:95570980-95571130	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:95570021-95570071	NHBE	bronchial:	n/a
2	chr9:95570021-95570071	NHBE	bronchial:	n/a
3	chr9:95571181-95571231	T-47D	breast:	n/a
4	chr9:95569697-95569747	NH-A	brain:	n/a
5	chr9:95571181-95571231	Jurkat	blood:	n/a
6	chr9:95570657-95570707	HEEpiC	esophagus:	n/a
7	chr9:95571917-95571967	ECC-1	luminal epithelium:	n/a
8	chr9:95569697-95569747	HepG2	liver:	n/a
9	chr9:95571711-95571761	HCPEpiC	choroid plexus:	n/a
10	chr9:95571589-95571639	CMK	blood:	n/a
11	chr9:95571711-95571761	NHBE	bronchial:	n/a
12	chr9:95571917-95571967	CMK	blood:	n/a
13	chr9:95571711-95571761	GM12878	blood:	n/a
14	chr9:95572081-95572131	Hepatocyte	liver:	n/a
15	chr9:95571181-95571231	GM06990	blood:	n/a
16	chr9:95572081-95572131	MCF-7	breast:	n/a
17	chr9:95570341-95570391	PFSK-1	brain:	n/a
18	chr9:95570341-95570391	GM12892	blood:	n/a
19	chr9:95571917-95571967	HCF	heart:	n/a
20	chr9:95570676-95570726	SAEC	small airway:	n/a
21	chr9:95570341-95570391	PANC-1	pancreas:	n/a
22	chr9:95571589-95571639	U87	brain:	n/a
23	chr9:95570341-95570391	BJ	skin:	n/a
24	chr9:95570676-95570726	ECC-1	luminal epithelium:	n/a
25	chr9:95571917-95571967	Jurkat	blood:	n/a
26	chr9:95569697-95569747	HRPEpiC	eye:	n/a
27	chr9:95569618-95569668	NH-A	brain:	n/a
28	chr9:95570341-95570391	NHBE	bronchial:	n/a
29	chr9:95571181-95571231	AG04450	lung:	fetal
30	chr9:95570676-95570726	HRPEpiC	eye:	n/a
31	chr9:95569618-95569668	NHBE	bronchial:	n/a
32	chr9:95570021-95570071	HRCEpiC	kidney:	n/a
33	chr9:95570021-95570071	BJ	skin:	n/a
34	chr9:95571711-95571761	HepG2	liver:	n/a
35	chr9:95570676-95570726	IMR90	lung:	fetal
36	chr9:95572254-95572304	Hela-S3	cervix:	n/a
37	chr9:95569697-95569747	NHBE	bronchial:	n/a
38	chr9:95571711-95571761	A549	lung:	n/a
39	chr9:95571917-95571967	PANC-1	pancreas:	n/a
40	chr9:95571917-95571967	MCF10A-Er-Src	breast:	n/a
41	chr9:95572254-95572304	PrEC	prostate:	n/a
42	chr9:95571711-95571761	SKMC	muscle:	n/a
43	chr9:95570341-95570391	MCF10A-Er-Src	breast:	n/a
44	chr9:95572254-95572304	HMEC	breast:	n/a
45	chr9:95569618-95569668	HEEpiC	esophagus:	n/a
46	chr9:95571917-95571967	Caco-2	colon:	n/a
47	chr9:95570021-95570071	HUVEC	blood vessel:	n/a
48	chr9:95569618-95569668	NT2-D1	testis:	n/a
49	chr9:95571589-95571639	ProgFib	skin:	n/a
50	chr9:95572081-95572131	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:95563386..95565101-chr9:95567156..95569894,2	MCF-7	breast:
2	chr9:95431083..95433127-chr9:95569211..95571144,2	MCF-7	breast:
3	chr9:95570706..95571359-chr9:95719247..95719879,2	MCF-7	breast:
4	chr9:95431331..95434473-chr9:95569877..95572688,3	MCF-7	breast:
5	chr9:33524178..33524765-chr9:95571291..95571812,2	MCF-7	breast:
6	chr9:95570373..95571952-chr9:95637590..95640500,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD19P	TF binding region
ANKRD19P	CpG island
ENSG00000127081	chromatin interactions
ENSG00000230453	chromatin interactions
ENSG00000127080	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145429727	chr9:95569676-95569677	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs78858160	chr9:95569794-95569795	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs549577022	chr9:95569884-95569885	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs4744147	chr9:95569917-95569918	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs138065502	chr9:95569924-95569925	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549718570	chr9:95569991-95569992	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs72758563	chr9:95570008-95570009	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538688411	chr9:95570023-95570024	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs553958353	chr9:95570037-95570038	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs566193004	chr9:95570038-95570039	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs113726526	chr9:95570077-95570078	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs555552436	chr9:95570193-95570194	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573939000	chr9:95570206-95570207	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs138700746	chr9:95570266-95570267	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs117334823	chr9:95570290-95570291	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs374952941	chr9:95570291-95570292	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs556540994	chr9:95570303-95570304	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs577701056	chr9:95570332-95570333	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs191363409	chr9:95570345-95570346	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs143211029	chr9:95570474-95570475	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs553726194	chr9:95570476-95570477	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs183282288	chr9:95570484-95570485	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs542814301	chr9:95570495-95570496	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs148274345	chr9:95570496-95570497	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs531832385	chr9:95570498-95570499	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs574312390	chr9:95570521-95570522	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs550051852	chr9:95570532-95570533	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs571640976	chr9:95570535-95570536	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs532380210	chr9:95570542-95570543	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs377644098	chr9:95570552-95570553	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs573778224	chr9:95570555-95570556	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs566005367	chr9:95570577-95570578	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs72618187	chr9:95570578-95570579	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs555552813	chr9:95570595-95570596	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs187456944	chr9:95570611-95570612	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs538075910	chr9:95570671-95570672	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs141130335	chr9:95570710-95570711	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs115349878	chr9:95570753-95570754	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs373931070	chr9:95570764-95570765	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs538223620	chr9:95570769-95570770	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs553741460	chr9:95570781-95570782	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs192745879	chr9:95570806-95570807	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs542705506	chr9:95570827-95570828	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs560691388	chr9:95570860-95570861	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs553450082	chr9:95570866-95570867	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs571852681	chr9:95570871-95570872	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs1830693	chr9:95570876-95570877	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs375605680	chr9:95570882-95570883	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs543636160	chr9:95570940-95570941	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs116424483	chr9:95571010-95571011	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD

Chromatin state (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95569200-95571200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
2	chr9:95569400-95569800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
3	chr9:95569400-95569800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
4	chr9:95569400-95569800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:95569400-95569800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
6	chr9:95569400-95570000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr9:95569400-95570000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr9:95569400-95570000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr9:95569400-95570000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr9:95569400-95570000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:95569400-95570000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:95569400-95570000	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
13	chr9:95569400-95570000	Bivalent Enhancer	HMEC	breast
14	chr9:95569400-95570200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr9:95569400-95570200	Bivalent Enhancer	Fetal Heart	heart
16	chr9:95569400-95570600	Bivalent Enhancer	Primary B cells from cord blood	blood
17	chr9:95569400-95570600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr9:95569400-95571400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr9:95569400-95571600	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr9:95569400-95572400	Bivalent Enhancer	Fetal Brain Male	brain
21	chr9:95569400-95572400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr9:95569400-95572400	Bivalent Enhancer	Fetal Thymus	thymus
23	chr9:95569600-95569800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr9:95569600-95569800	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
25	chr9:95569600-95569800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
26	chr9:95569600-95569800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:95569600-95569800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
28	chr9:95569600-95569800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:95569600-95569800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
30	chr9:95569600-95569800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
31	chr9:95569600-95569800	Bivalent Enhancer	Brain Germinal Matrix	brain
32	chr9:95569600-95569800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
33	chr9:95569600-95569800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr9:95569600-95569800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
35	chr9:95569600-95569800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
36	chr9:95569600-95569800	Bivalent Enhancer	Rectal Smooth Muscle	rectum
37	chr9:95569600-95569800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr9:95569600-95569800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
39	chr9:95569600-95569800	Bivalent/Poised TSS	NHEK	skin
40	chr9:95569600-95570000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
41	chr9:95569600-95570000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
42	chr9:95569600-95570000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr9:95569600-95570000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
44	chr9:95569600-95570000	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
45	chr9:95569600-95570000	Bivalent Enhancer	Spleen	Spleen
46	chr9:95569600-95570200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:95569600-95570200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
48	chr9:95569600-95570200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
49	chr9:95569600-95570200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
50	chr9:95569600-95570200	Bivalent Enhancer	Left Ventricle	heart

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