Variant report

Variant	nsv1026335
Chromosome Location	chr8:10037279-10139782
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10093019..10095444-chr8:10095651..10099192,3	K562	blood:
2	chr8:10120963..10123282-chr8:10135840..10137757,2	K562	blood:
3	chr8:9911549..9912256-chr8:10131040..10131712,2	MCF-7	breast:
4	chr8:10118764..10122817-chr8:10126495..10130448,3	K562	blood:
5	chr8:9911097..9912602-chr8:10046216..10048538,2	MCF-7	breast:
6	chr8:10120963..10123282-chr8:10135840..10137757,2	K562	blood:
7	chr8:9815144..9815911-chr8:10131182..10132031,2	MCF-7	breast:
8	chr8:9910082..9912394-chr8:10125398..10127467,2	MCF-7	breast:
9	chr8:10118764..10122817-chr8:10126495..10130448,3	K562	blood:
10	chr8:9911202..9913645-chr8:10128676..10130785,2	MCF-7	breast:
11	chr8:10093019..10095444-chr8:10095651..10099192,3	K562	blood:
12	chr8:9898892..9899783-chr8:10131113..10132044,4	K562	blood:
13	chr8:10130155..10132980-chr8:10133293..10136060,2	MCF-7	breast:
14	chr8:9898835..9899700-chr8:10131105..10131973,4	MCF-7	breast:
15	chr5:118406656..118407337-chr8:10095570..10096070,2	Hela-S3	cervix:
16	chr8:9898818..9899707-chr8:10131509..10132062,2	MCF-7	breast:
17	chr8:10130155..10132980-chr8:10133293..10136060,2	MCF-7	breast:

No data

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

Extended variants
information (count: 6168 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:6168 , 50 per page) page: 1 2 3 4 5 6 7 ... 124

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147294430	chr8:10037290-10037291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570477629	chr8:10037316-10037317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532998253	chr8:10037336-10037337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386722140	chr8:10037356-10037357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73664934	chr8:10037358-10037359	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs77489064	chr8:10037362-10037363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62488744	chr8:10037364-10037365	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561301473	chr8:10037397-10037398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548171896	chr8:10037443-10037444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534197542	chr8:10037496-10037497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186444362	chr8:10037518-10037519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142453508	chr8:10037536-10037537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79283440	chr8:10037560-10037561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556381084	chr8:10037590-10037591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61127238	chr8:10037601-10037602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183255554	chr8:10037605-10037606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116337698	chr8:10037647-10037648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571982218	chr8:10037665-10037666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188716664	chr8:10037681-10037682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376368769	chr8:10037688-10037689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566410627	chr8:10037717-10037718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112913796	chr8:10037793-10037794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554905112	chr8:10037878-10037879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6993295	chr8:10037879-10037880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549893894	chr8:10037894-10037895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3921850	chr8:10037896-10037897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531975074	chr8:10037904-10037905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192604205	chr8:10037957-10037958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149672974	chr8:10037972-10037973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534445749	chr8:10037987-10037988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547480435	chr8:10037996-10037997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570862686	chr8:10037999-10038000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140280215	chr8:10038046-10038047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570988956	chr8:10038061-10038062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539431297	chr8:10038066-10038067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556656079	chr8:10038083-10038084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576096391	chr8:10038093-10038094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535289305	chr8:10038115-10038116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144060034	chr8:10038119-10038120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572020780	chr8:10038133-10038134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182771903	chr8:10038142-10038143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112834829	chr8:10038163-10038164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369356113	chr8:10038174-10038175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573567036	chr8:10038182-10038183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146485305	chr8:10038208-10038209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543035122	chr8:10038211-10038212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563386874	chr8:10038218-10038219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528966305	chr8:10038241-10038242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs57108872	chr8:10038242-10038243	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs555353370	chr8:10038246-10038247	Weak transcription Enhancers	n/a	n/a	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:759 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10028200-10039000	Enhancers	Fetal Brain Male	brain
2	chr8:10031600-10040600	Weak transcription	Brain Germinal Matrix	brain
3	chr8:10036200-10037400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:10036800-10037400	Enhancers	Brain Angular Gyrus	brain
5	chr8:10036800-10037600	Enhancers	Fetal Brain Female	brain
6	chr8:10037800-10038200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:10037800-10038200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:10039000-10039400	Weak transcription	Fetal Brain Male	brain
9	chr8:10039400-10039600	Enhancers	Fetal Brain Male	brain
10	chr8:10039600-10043400	Weak transcription	Fetal Brain Male	brain
11	chr8:10040000-10040600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr8:10040400-10041200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:10040600-10042000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:10040800-10043800	Weak transcription	Brain Germinal Matrix	brain
15	chr8:10041600-10041800	Enhancers	Pancreas	Pancrea
16	chr8:10041800-10042400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:10042000-10043000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:10042000-10043600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:10042200-10043200	Enhancers	HSMMtube	muscle
20	chr8:10042400-10043000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr8:10042600-10042800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:10042600-10043000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:10042800-10043400	Weak transcription	Aorta	Aorta
24	chr8:10042800-10049400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:10043400-10043800	ZNF genes & repeats	Aorta	Aorta
26	chr8:10043400-10046600	Enhancers	Fetal Brain Male	brain
27	chr8:10043800-10044600	Enhancers	Brain Germinal Matrix	brain
28	chr8:10043800-10046400	Weak transcription	Aorta	Aorta
29	chr8:10044200-10050000	Weak transcription	Fetal Brain Female	brain
30	chr8:10044400-10048000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr8:10044800-10045800	Enhancers	Primary hematopoietic stem cells	blood
32	chr8:10045000-10045600	Enhancers	Liver	Liver
33	chr8:10045600-10046400	Weak transcription	Liver	Liver
34	chr8:10046400-10046600	Enhancers	Primary B cells from cord blood	blood
35	chr8:10046400-10046600	Enhancers	Liver	Liver
36	chr8:10046600-10049000	Weak transcription	Fetal Brain Male	brain
37	chr8:10047200-10048600	Weak transcription	Primary B cells from cord blood	blood
38	chr8:10047800-10048000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:10047800-10048000	Enhancers	Right Ventricle	heart
40	chr8:10048000-10049000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:10048200-10052200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:10049000-10050200	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr8:10049000-10051200	Enhancers	Fetal Brain Male	brain
44	chr8:10049200-10049400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:10049400-10049600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:10049400-10050000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:10049400-10050000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:10049400-10050600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr8:10049400-10050800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:10049400-10051000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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