Variant report

Variant	nsv436583
Chromosome Location	chr8:11489854-11495692
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11489168..11492004-chr8:11494231..11496266,2	K562	blood:
2	chr8:11432287..11434646-chr8:11489007..11491911,2	K562	blood:
3	chr8:11489168..11492004-chr8:11494231..11496266,2	K562	blood:
4	chr8:11490989..11493930-chr8:11499186..11501140,2	K562	blood:
5	chr8:11477779..11479551-chr8:11492372..11494460,2	K562	blood:

Variant related genes	Relation type
ENSG00000170983	chromatin interactions

Extended variants
information (count: 340 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573230056	chr8:11489880-11489881	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs17153551	chr8:11489894-11489895	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs562073733	chr8:11489930-11489931	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371484677	chr8:11489932-11489933	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114786139	chr8:11489942-11489943	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145262069	chr8:11489943-11489944	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147608527	chr8:11489959-11489960	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552293429	chr8:11489963-11489964	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568066370	chr8:11489976-11489977	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142296620	chr8:11489988-11489989	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs113388783	chr8:11490071-11490072	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368842856	chr8:11490080-11490081	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs180921732	chr8:11490118-11490119	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546554690	chr8:11490130-11490131	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs185966755	chr8:11490145-11490146	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568332974	chr8:11490149-11490150	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs190392951	chr8:11490157-11490158	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557264331	chr8:11490167-11490168	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs143166591	chr8:11490186-11490187	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570552428	chr8:11490216-11490217	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539652257	chr8:11490226-11490227	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs111667990	chr8:11490233-11490234	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374076341	chr8:11490250-11490251	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs569076040	chr8:11490268-11490269	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs539542767	chr8:11490273-11490274	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558265944	chr8:11490287-11490288	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34442956	chr8:11490301-11490302	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181849745	chr8:11490306-11490307	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534170609	chr8:11490315-11490316	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs61460582	chr8:11490341-11490342	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs2256785	chr8:11490411-11490412	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544510065	chr8:11490479-11490480	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs562741995	chr8:11490486-11490487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554498989	chr8:11490489-11490490	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs151250239	chr8:11490537-11490538	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545561620	chr8:11490556-11490557	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs17808048	chr8:11490567-11490568	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528194101	chr8:11490589-11490590	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs140420868	chr8:11490618-11490619	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561674965	chr8:11490621-11490622	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs79423167	chr8:11490631-11490632	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150402170	chr8:11490632-11490633	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568942830	chr8:11490640-11490641	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs186054610	chr8:11490655-11490656	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs56674664	chr8:11490667-11490668	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566924750	chr8:11490692-11490693	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs79725603	chr8:11490696-11490697	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555298880	chr8:11490697-11490698	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371607598	chr8:11490698-11490699	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs138363245	chr8:11490741-11490742	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	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
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	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
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11482200-11491000	Enhancers	Pancreas	Pancrea
2	chr8:11485000-11491400	Enhancers	Fetal Intestine Small	intestine
3	chr8:11485200-11490800	Enhancers	Liver	Liver
4	chr8:11485200-11491000	Enhancers	Stomach Mucosa	stomach
5	chr8:11485600-11491400	Enhancers	Ovary	ovary
6	chr8:11487600-11491000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:11488200-11490000	Enhancers	Gastric	stomach
8	chr8:11488400-11490600	Enhancers	Spleen	Spleen
9	chr8:11488400-11490800	Enhancers	Left Ventricle	heart
10	chr8:11488400-11491000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:11488400-11491000	Enhancers	Fetal Kidney	kidney
12	chr8:11488600-11490000	Enhancers	Right Atrium	heart
13	chr8:11488600-11490000	Enhancers	Right Ventricle	heart
14	chr8:11488600-11490800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:11488600-11492200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:11488800-11490000	Enhancers	Fetal Intestine Large	intestine
17	chr8:11488800-11490000	Enhancers	Fetal Thymus	thymus
18	chr8:11488800-11490200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr8:11488800-11490400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:11489000-11490200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:11489200-11490000	Enhancers	Placenta	Placenta
22	chr8:11489600-11490000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:11489600-11490000	Flanking Active TSS	Fetal Heart	heart
24	chr8:11489600-11490200	Enhancers	HepG2	liver
25	chr8:11489600-11490400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
26	chr8:11489800-11490200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr8:11489800-11491800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:11490000-11490400	Weak transcription	Gastric	stomach
29	chr8:11490000-11490400	Weak transcription	Right Ventricle	heart
30	chr8:11490000-11490600	Weak transcription	Right Atrium	heart
31	chr8:11490000-11491000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:11490000-11491200	Enhancers	Fetal Heart	heart
33	chr8:11490000-11494000	Weak transcription	Fetal Intestine Large	intestine
34	chr8:11490200-11491000	Flanking Active TSS	HepG2	liver
35	chr8:11490400-11490600	Bivalent Enhancer	Fetal Stomach	stomach
36	chr8:11490400-11491000	Enhancers	Right Ventricle	heart
37	chr8:11490400-11491400	Enhancers	Gastric	stomach
38	chr8:11490600-11490800	Enhancers	Placenta	Placenta
39	chr8:11490600-11490800	Enhancers	Right Atrium	heart
40	chr8:11490600-11492200	Weak transcription	Spleen	Spleen
41	chr8:11490800-11491000	Bivalent Enhancer	Placenta	Placenta
42	chr8:11490800-11499200	Weak transcription	Left Ventricle	heart
43	chr8:11491000-11492000	Enhancers	HepG2	liver
44	chr8:11491000-11492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr8:11491000-11494400	Weak transcription	Stomach Mucosa	stomach
46	chr8:11491000-11498400	Weak transcription	Pancreas	Pancrea
47	chr8:11491000-11499600	Weak transcription	Right Ventricle	heart
48	chr8:11491200-11494200	Weak transcription	Fetal Heart	heart
49	chr8:11491400-11493800	Weak transcription	Fetal Intestine Small	intestine
50	chr8:11491400-11494400	Weak transcription	Gastric	stomach

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