Variant report

Variant	nsv831230
Chromosome Location	chr8:9953343-10139350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10093019..10095444-chr8:10095651..10099192,3	K562	blood:
2	chr8:9910082..9912394-chr8:10125398..10127467,2	MCF-7	breast:
3	chr19:10063347..10063968-chr8:9970215..9971121,2	MCF-7	breast:
4	chr8:10120963..10123282-chr8:10135840..10137757,2	K562	blood:
5	chr8:9911097..9912602-chr8:10046216..10048538,2	MCF-7	breast:
6	chr8:9963502..9966052-chr8:9972558..9974638,2	MCF-7	breast:
7	chr8:10093019..10095444-chr8:10095651..10099192,3	K562	blood:
8	chr8:9963502..9966052-chr8:9972558..9974638,2	MCF-7	breast:
9	chr8:9989052..9991739-chr8:9991879..9993683,2	K562	blood:
10	chr8:9968733..9972257-chr8:9973876..9975676,3	K562	blood:
11	chr8:9910777..9912807-chr8:10008037..10009823,2	MCF-7	breast:
12	chr8:9959952..9962225-chr8:9964575..9967404,2	MCF-7	breast:
13	chr5:118406656..118407337-chr8:10095570..10096070,2	Hela-S3	cervix:
14	chr8:9911549..9912256-chr8:10131040..10131712,2	MCF-7	breast:
15	chr8:9954771..9956774-chr8:9960148..9962685,2	K562	blood:
16	chr8:9968733..9972257-chr8:9973876..9975676,3	K562	blood:
17	chr8:9954771..9956774-chr8:9960148..9962685,2	K562	blood:
18	chr8:9985940..9988660-chr8:9990986..9993361,2	K562	blood:
19	chr8:9898835..9899700-chr8:10131105..10131973,4	MCF-7	breast:
20	chr8:10118764..10122817-chr8:10126495..10130448,3	K562	blood:
21	chr8:9985280..9987758-chr8:9989379..9992085,2	K562	blood:
22	chr8:9898818..9899707-chr8:10131509..10132062,2	MCF-7	breast:
23	chr8:10118764..10122817-chr8:10126495..10130448,3	K562	blood:
24	chr8:9911729..9913700-chr8:9963859..9966058,2	MCF-7	breast:
25	chr8:9951257..9953099-chr8:9953951..9956586,3	MCF-7	breast:
26	chr8:9815144..9815911-chr8:10131182..10132031,2	MCF-7	breast:
27	chr8:9985940..9988660-chr8:9990986..9993361,2	K562	blood:
28	chr8:10130155..10132980-chr8:10133293..10136060,2	MCF-7	breast:
29	chr8:9911202..9913645-chr8:10128676..10130785,2	MCF-7	breast:
30	chr8:9898892..9899783-chr8:10131113..10132044,4	K562	blood:
31	chr8:10130155..10132980-chr8:10133293..10136060,2	MCF-7	breast:
32	chr8:10120963..10123282-chr8:10135840..10137757,2	K562	blood:
33	chr8:9989052..9991739-chr8:9991879..9993683,2	K562	blood:
34	chr8:9959952..9962225-chr8:9964575..9967404,2	MCF-7	breast:
35	chr8:9985280..9987758-chr8:9989379..9992085,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260093	chromatin interactions
ENSG00000175806	chromatin interactions
ENSG00000172869	chromatin interactions

Extended variants
information (count: 10973 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:10973 , 50 per page) page: 1 2 3 4 5 6 7 ... 220

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368948959	chr8:9953350-9953351	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371022498	chr8:9953361-9953362	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554297411	chr8:9953362-9953363	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577369603	chr8:9953387-9953388	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376816607	chr8:9953393-9953394	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546321184	chr8:9953442-9953443	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs562642616	chr8:9953493-9953494	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs374441439	chr8:9953508-9953509	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs367738884	chr8:9953531-9953532	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs182360159	chr8:9953542-9953543	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562046766	chr8:9953550-9953551	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs201988885	chr8:9953554-9953555	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs528078766	chr8:9953566-9953567	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs370944969	chr8:9953591-9953592	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547031992	chr8:9953599-9953600	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs74506146	chr8:9953610-9953611	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs532817921	chr8:9953611-9953612	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549487423	chr8:9953625-9953626	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs569336625	chr8:9953685-9953686	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs538460099	chr8:9953748-9953749	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs189026273	chr8:9953751-9953752	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs76103397	chr8:9953769-9953770	Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs193022749	chr8:9953814-9953815	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs554160378	chr8:9953820-9953821	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs374862715	chr8:9953879-9953880	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs577328932	chr8:9953886-9953887	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs539903842	chr8:9953895-9953896	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs138406723	chr8:9953919-9953920	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs552979542	chr8:9953921-9953922	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs576138458	chr8:9953977-9953978	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542056161	chr8:9954016-9954017	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561827888	chr8:9954026-9954027	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572265315	chr8:9954102-9954103	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375431480	chr8:9954151-9954152	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149627554	chr8:9954160-9954161	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs563711580	chr8:9954164-9954165	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532780539	chr8:9954262-9954263	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs549442618	chr8:9954342-9954343	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs563443577	chr8:9954381-9954382	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs531801301	chr8:9954382-9954383	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs377572762	chr8:9954389-9954390	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571715766	chr8:9954398-9954399	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548721580	chr8:9954433-9954434	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs564395746	chr8:9954456-9954457	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs533707081	chr8:9954458-9954459	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527959226	chr8:9954489-9954490	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548122958	chr8:9954491-9954492	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570841178	chr8:9954513-9954514	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539872768	chr8:9954522-9954523	Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs566335039	chr8:9954539-9954540	Weak transcription 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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:1648 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9952000-9959400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:9952600-9955200	Active TSS	Brain Anterior Caudate	brain
3	chr8:9952600-9955200	Active TSS	Brain Hippocampus Middle	brain
4	chr8:9952600-9956800	Active TSS	Fetal Brain Female	brain
5	chr8:9952800-9955000	Active TSS	Brain Cingulate Gyrus	brain
6	chr8:9952800-9955000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:9952800-9955400	Active TSS	Brain Angular Gyrus	brain
8	chr8:9952800-9955400	Active TSS	NH-A	brain
9	chr8:9952800-9955800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:9953000-9953400	Enhancers	Right Atrium	heart
11	chr8:9953000-9953800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:9953000-9955000	Active TSS	Brain Substantia Nigra	brain
13	chr8:9953000-9955200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr8:9953200-9953600	Active TSS	Fetal Brain Male	brain
15	chr8:9953200-9955200	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr8:9953200-9955800	Active TSS	Brain Germinal Matrix	brain
17	chr8:9953600-9954000	Flanking Active TSS	Fetal Brain Male	brain
18	chr8:9953800-9954000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:9954000-9956200	Active TSS	Fetal Brain Male	brain
20	chr8:9955000-9956600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:9955000-9956800	Weak transcription	Brain Substantia Nigra	brain
22	chr8:9955000-9957400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:9955200-9955400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr8:9955200-9956400	Weak transcription	Brain Anterior Caudate	brain
25	chr8:9955200-9956400	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:9955200-9957000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:9955400-9956600	Weak transcription	Brain Angular Gyrus	brain
28	chr8:9955800-9956000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:9955800-9956400	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr8:9956000-9957200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:9956200-9956400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:9956200-9956400	Flanking Active TSS	Fetal Brain Male	brain
33	chr8:9956200-9956600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr8:9956200-9956800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr8:9956200-9956800	Enhancers	Adipose Nuclei	Adipose
36	chr8:9956400-9956600	Enhancers	Brain Hippocampus Middle	brain
37	chr8:9956400-9957200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:9956400-9957600	Active TSS	Brain Germinal Matrix	brain
39	chr8:9956400-9958000	Enhancers	Brain Anterior Caudate	brain
40	chr8:9956400-9958200	Enhancers	Fetal Brain Male	brain
41	chr8:9956600-9956800	Enhancers	Brain Cingulate Gyrus	brain
42	chr8:9956600-9956800	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr8:9956600-9957000	Enhancers	Brain Angular Gyrus	brain
44	chr8:9956600-9962000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:9956800-9957000	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr8:9956800-9957000	Flanking Active TSS	Fetal Brain Female	brain
47	chr8:9956800-9957800	Enhancers	Brain Hippocampus Middle	brain
48	chr8:9956800-9957800	Enhancers	Brain Substantia Nigra	brain
49	chr8:9957000-9957200	Active TSS	Fetal Brain Female	brain
50	chr8:9957000-9957400	Enhancers	Brain Cingulate Gyrus	brain

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