Variant report

Variant	nsv470203
Chromosome Location	chr8:19537084-19555398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:220)
CpG islands
(count:612)
Chromatin interactive
region (count:10)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:220 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:19553700-19554348	GM12878	blood:	n/a	n/a
2	ATF2	chr8:19553802-19554224	GM12878	blood:	n/a	n/a
3	BATF	chr8:19553926-19554213	GM12878	blood:	n/a	n/a
4	BCL11A	chr8:19553860-19554247	GM12878	blood:	n/a	n/a
5	BCL11A	chr8:19553876-19554193	GM12878	blood:	n/a	n/a
6	BCL3	chr8:19553900-19554266	GM12878	blood:	n/a	n/a
7	BCLAF1	chr8:19553779-19554299	GM12878	blood:	n/a	n/a
8	BHLHE40	chr8:19553845-19554475	GM12878	blood:	n/a	n/a
9	BHLHE40	chr8:19539963-19539997	GM12878	blood:	n/a	n/a
10	CEBPB	chr8:19548432-19548813	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr8:19542826-19543029	A549	lung:	n/a	n/a
12	CEBPB	chr8:19544228-19544963	IMR90	lung:	n/a	n/a
13	CEBPB	chr8:19542792-19543117	IMR90	lung:	n/a	n/a
14	CEBPB	chr8:19539966-19540528	IMR90	lung:	n/a	chr8:19540132-19540143
15	CEBPB	chr8:19542836-19543036	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr8:19553944-19554160	GM12878	blood:	n/a	n/a
17	CHD2	chr8:19539854-19539868	GM12878	blood:	n/a	n/a
18	CHD2	chr8:19553748-19554388	GM12878	blood:	n/a	n/a
19	CHD2	chr8:19548653-19549216	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr8:19555320-19555470	HCM	heart:	n/a	n/a
21	CTCF	chr8:19537000-19537150	GM06990	blood:	n/a	n/a
22	CTCF	chr8:19547254-19547266	GM10248	blood:	n/a	n/a
23	CTCF	chr8:19552960-19553110	AG04449	skin:	n/a	n/a
24	CTCF	chr8:19538022-19538055	Spleen_OC	spleen:	n/a	n/a
25	CUX1	chr8:19553986-19554502	GM12878	blood:	n/a	n/a
26	E2F4	chr8:19540037-19540264	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr8:19551549-19551846	MCF10A-Er-Src	breast:	n/a	n/a
28	EBF1	chr8:19553896-19554223	GM12878	blood:	n/a	n/a
29	EBF1	chr8:19545539-19545739	GM12878	blood:	n/a	chr8:19545664-19545673
30	EBF1	chr8:19553838-19554222	GM12878	blood:	n/a	n/a
31	EBF1	chr8:19541958-19542258	GM12878	blood:	n/a	chr8:19542089-19542098 chr8:19542088-19542098 chr8:19542087-19542098 chr8:19542143-19542154 chr8:19542087-19542100
32	EBF1	chr8:19554446-19554490	GM12878	blood:	n/a	n/a
33	ELK1	chr8:19553910-19554077	GM12878	blood:	n/a	n/a
34	ELK1	chr8:19548567-19548748	Hela-S3	cervix:	n/a	n/a
35	EP300	chr8:19536972-19537280	H1-hESC	embryonic stem cell:	n/a	n/a
36	EP300	chr8:19539936-19540117	GM12878	blood:	n/a	n/a
37	EP300	chr8:19553766-19554193	GM12878	blood:	n/a	chr8:19553817-19553824
38	EP300	chr8:19553853-19554485	GM12878	blood:	n/a	n/a
39	EP300	chr8:19537006-19537256	H1-hESC	embryonic stem cell:	n/a	n/a
40	EP300	chr8:19553761-19554375	GM12878	blood:	n/a	chr8:19553817-19553824
41	ETS1	chr8:19553810-19554197	GM12878	blood:	n/a	n/a
42	FAM48A	chr8:19543274-19543430	GM12878	blood:	n/a	n/a
43	FAM48A	chr8:19537524-19537621	GM12878	blood:	n/a	n/a
44	FOS	chr8:19539691-19540395	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr8:19539699-19540394	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr8:19539888-19540379	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr8:19555358-19555560	MCF10A-Er-Src	breast:	n/a	chr8:19555533-19555545
48	FOS	chr8:19542836-19543061	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr8:19551606-19552200	MCF10A-Er-Src	breast:	n/a	chr8:19551939-19551948
50	FOS	chr8:19539778-19540389	MCF10A-Er-Src	breast:	n/a	n/a

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:19540479-19540529	HepG2	liver:	n/a
2	chr8:19540734-19540784	PFSK-1	brain:	n/a
3	chr8:19540479-19540529	HepG2	liver:	n/a
4	chr8:19540734-19540784	PFSK-1	brain:	n/a
5	chr8:19540453-19540503	NT2-D1	testis:	n/a
6	chr8:19540272-19540322	HCM	heart:	n/a
7	chr8:19539991-19540041	GM12878	blood:	n/a
8	chr8:19540210-19540260	HCF	heart:	n/a
9	chr8:19555033-19555083	NT2-D1	testis:	n/a
10	chr8:19540453-19540503	HEK293	kidney:	embryo
11	chr8:19555033-19555083	HCF	heart:	n/a
12	chr8:19540479-19540529	AG10803	skin:	n/a
13	chr8:19540466-19540516	PrEC	prostate:	n/a
14	chr8:19540396-19540446	A549	lung:	n/a
15	chr8:19540479-19540529	CMK	blood:	n/a
16	chr8:19540396-19540446	HAEpiC	amniotic membrane:	n/a
17	chr8:19540576-19540626	GM06990	blood:	n/a
18	chr8:19539991-19540041	Hepatocyte	liver:	n/a
19	chr8:19540272-19540322	AG04450	lung:	fetal
20	chr8:19540466-19540516	ECC-1	luminal epithelium:	n/a
21	chr8:19540453-19540503	AG04450	lung:	fetal
22	chr8:19539991-19540041	GM12892	blood:	n/a
23	chr8:19555033-19555083	AG09309	skin:	n/a
24	chr8:19540734-19540784	LNCaP	prostate:	n/a
25	chr8:19540210-19540260	Caco-2	colon:	n/a
26	chr8:19540453-19540503	AG04449	skin:	fetal
27	chr8:19540210-19540260	IMR90	lung:	fetal
28	chr8:19540210-19540260	SAEC	small airway:	n/a
29	chr8:19539991-19540041	ECC-1	luminal epithelium:	n/a
30	chr8:19540576-19540626	HEEpiC	esophagus:	n/a
31	chr8:19540272-19540322	HCPEpiC	choroid plexus:	n/a
32	chr8:19540453-19540503	PrEC	prostate:	n/a
33	chr8:19539991-19540041	HIPEpiC	eye:	n/a
34	chr8:19540466-19540516	SAEC	small airway:	n/a
35	chr8:19539991-19540041	K562	blood:	n/a
36	chr8:19540479-19540529	HPAEpiC	pulmonary alveolar:	n/a
37	chr8:19540453-19540503	Jurkat	blood:	n/a
38	chr8:19540734-19540784	ProgFib	skin:	n/a
39	chr8:19540734-19540784	HCT-116	colon:	n/a
40	chr8:19555033-19555083	SK-N-MC	brain:	n/a
41	chr8:19540479-19540529	PFSK-1	brain:	n/a
42	chr8:19540734-19540784	MCF-7	breast:	n/a
43	chr8:19555033-19555083	AG09319	gingival:	n/a
44	chr8:19540396-19540446	NHDF-neo	bronchial:	n/a
45	chr8:19540576-19540626	HCT-116	colon:	n/a
46	chr8:19540479-19540529	ProgFib	skin:	n/a
47	chr8:19540453-19540503	NH-A	brain:	n/a
48	chr8:19540453-19540503	HCM	heart:	n/a
49	chr8:19540479-19540529	NHDF-neo	bronchial:	n/a
50	chr8:19540479-19540529	GM06990	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:19535486..19538060-chr8:19539195..19541920,3	K562	blood:
2	chr8:19552184..19554316-chr8:19556580..19558198,2	MCF-7	breast:
3	chr8:19535486..19538060-chr8:19539195..19541920,3	K562	blood:
4	chr8:19534245..19536815-chr8:19550846..19553257,2	MCF-7	breast:
5	chr8:19534323..19537317-chr8:19613839..19616648,2	MCF-7	breast:
6	chr8:19535157..19537582-chr8:19537640..19539899,3	MCF-7	breast:
7	chr8:19535666..19538060-chr8:19539355..19541920,2	K562	blood:
8	chr8:19535666..19538060-chr8:19539355..19541920,2	K562	blood:
9	chr8:19536477..19540083-chr8:19612902..19617470,5	MCF-7	breast:
10	chr8:19547135..19548866-chr8:19674484..19677442,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INTS10-2	chr8:19546235-19546445	ENSG00000253270
2	lnc-INTS10-2	chr8:19546235-19547041	NONHSAT125382
3	lnc-PSD3-3	chr8:19540439-19540751	NONHSAT125377

No data

Variant related genes	Relation type
CSGALNACT1	TF binding region
CSGALNACT1	CpG island
ENSG00000253270	chromatin interactions
ENSG00000104613	chromatin interactions
ENSG00000147408	chromatin interactions

Extended variants
information (count: 975 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:975 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4922084	chr8:19537084-19537085	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs146793739	chr8:19537100-19537101	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373996230	chr8:19537167-19537168	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs544616475	chr8:19537168-19537169	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs17409194	chr8:19537190-19537191	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184693090	chr8:19537224-19537225	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs529641079	chr8:19537239-19537240	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549690948	chr8:19537270-19537271	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs368888283	chr8:19537299-19537300	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1994791	chr8:19537312-19537313	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs563085292	chr8:19537325-19537326	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531892079	chr8:19537337-19537338	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551923646	chr8:19537344-19537345	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571678972	chr8:19537350-19537351	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534018936	chr8:19537369-19537370	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189660705	chr8:19537393-19537394	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567548322	chr8:19537430-19537431	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536181097	chr8:19537433-19537434	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140465319	chr8:19537447-19537448	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs575854118	chr8:19537483-19537484	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538412643	chr8:19537485-19537486	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs560911184	chr8:19537521-19537522	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs1994790	chr8:19537527-19537528	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs75990427	chr8:19537528-19537529	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs540768215	chr8:19537534-19537535	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs193036241	chr8:19537539-19537540	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs574448575	chr8:19537544-19537545	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs79109557	chr8:19537575-19537576	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563144441	chr8:19537610-19537611	Enhancers Weak transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185100437	chr8:19537611-19537612	Enhancers Weak transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531954676	chr8:19537616-19537617	Enhancers Weak transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189039873	chr8:19537619-19537620	Enhancers Weak transcription Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs11992411	chr8:19537640-19537641	Enhancers Weak transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565381830	chr8:19537672-19537673	Enhancers Weak transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs527831265	chr8:19537697-19537698	Enhancers Weak transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs4990627	chr8:19537787-19537788	Enhancers Weak transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146574933	chr8:19537795-19537796	Enhancers Weak transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs529989687	chr8:19537819-19537820	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs551009174	chr8:19537820-19537821	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs572586216	chr8:19537840-19537841	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566970602	chr8:19537844-19537845	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs538524495	chr8:19537876-19537877	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs558765459	chr8:19537878-19537879	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs530306527	chr8:19537882-19537883	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11784031	chr8:19537883-19537884	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs34674826	chr8:19537920-19537921	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs554324401	chr8:19537924-19537925	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs574509669	chr8:19537936-19537937	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs543406021	chr8:19537970-19537971	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs556979013	chr8:19537975-19537976	Weak transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Prostate cancer	22341455	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:548 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19520400-19539000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr8:19520400-19539400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr8:19520400-19539600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:19520600-19538800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:19520600-19538800	Weak transcription	Esophagus	oesophagus
6	chr8:19520600-19538800	Weak transcription	Gastric	stomach
7	chr8:19523600-19538600	Weak transcription	Brain Anterior Caudate	brain
8	chr8:19523800-19540200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:19524200-19539000	Weak transcription	Ovary	ovary
10	chr8:19525400-19538800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:19528400-19538400	Weak transcription	Fetal Heart	heart
12	chr8:19528600-19538600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:19528600-19540200	Weak transcription	Spleen	Spleen
14	chr8:19528800-19538800	Weak transcription	Lung	lung
15	chr8:19530600-19538400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr8:19531000-19538400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr8:19531200-19538600	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:19532000-19539200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:19533400-19537800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:19533400-19538000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr8:19533600-19538600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:19533800-19539000	Weak transcription	Thymus	Thymus
23	chr8:19534400-19539000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr8:19534600-19539200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:19534800-19538800	Weak transcription	Primary T cells from cord blood	blood
26	chr8:19535000-19537200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr8:19535200-19537600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:19535200-19538600	Weak transcription	Left Ventricle	heart
29	chr8:19535200-19538600	Weak transcription	Right Atrium	heart
30	chr8:19535400-19537600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:19535400-19537600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr8:19535600-19537400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:19535600-19537600	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:19535800-19537600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr8:19535800-19537800	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:19536000-19537200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:19536000-19537400	Enhancers	H1 Cell Line	embryonic stem cell
38	chr8:19536000-19537400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr8:19536000-19537600	Enhancers	Primary B cells from cord blood	blood
40	chr8:19536000-19537800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:19536000-19539200	Weak transcription	Fetal Lung	lung
42	chr8:19536200-19538000	Active TSS	Right Ventricle	heart
43	chr8:19536200-19539200	Weak transcription	NHLF	lung
44	chr8:19536200-19540800	Enhancers	Pancreas	Pancrea
45	chr8:19536400-19537400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:19536400-19538800	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr8:19536400-19539000	Weak transcription	Stomach Mucosa	stomach
48	chr8:19536400-19539600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:19536400-19539600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:19536400-19543600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links