Variant report

Variant	nsv522043
Chromosome Location	chr8:6371476-6374353
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6373777..6375573-chr8:6376126..6378974,2	K562	blood:
2	chr8:6366887..6369432-chr8:6372035..6375805,3	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1982386	chr8:6371476-6371477	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190495677	chr8:6371485-6371486	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7845553	chr8:6371536-6371537	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558136611	chr8:6371539-6371540	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2442628	chr8:6371545-6371546	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187711875	chr8:6371547-6371548	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563867876	chr8:6371578-6371579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs55715804	chr8:6371584-6371585	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529549917	chr8:6371588-6371589	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541517669	chr8:6371615-6371616	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189785852	chr8:6371630-6371631	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527264568	chr8:6371633-6371634	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79324428	chr8:6371634-6371635	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570146751	chr8:6371660-6371661	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571904227	chr8:6371665-6371666	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374973214	chr8:6371666-6371667	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549706156	chr8:6371667-6371668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534362117	chr8:6371675-6371676	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2515421	chr8:6371763-6371764	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146078856	chr8:6371774-6371775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549181837	chr8:6371781-6371782	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2515422	chr8:6371789-6371790	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs534843761	chr8:6371809-6371810	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558164109	chr8:6371830-6371831	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182458101	chr8:6371856-6371857	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537729661	chr8:6371864-6371865	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141926611	chr8:6371890-6371891	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3020218	chr8:6371927-6371928	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs7812805	chr8:6371933-6371934	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188277857	chr8:6371938-6371939	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146294951	chr8:6371976-6371977	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572089684	chr8:6372001-6372002	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540796630	chr8:6372002-6372003	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2979670	chr8:6372025-6372026	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs373881108	chr8:6372030-6372031	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2916736	chr8:6372033-6372034	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112576748	chr8:6372035-6372036	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549618217	chr8:6372052-6372053	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563265135	chr8:6372058-6372059	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529047416	chr8:6372079-6372080	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs139271539	chr8:6372091-6372092	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2916735	chr8:6372112-6372113	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368063942	chr8:6372149-6372150	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2979671	chr8:6372172-6372173	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs200292434	chr8:6372173-6372174	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs202095451	chr8:6372183-6372184	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371758429	chr8:6372195-6372196	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537443444	chr8:6372212-6372213	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7813215	chr8:6372233-6372234	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs574290458	chr8:6372235-6372236	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
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
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	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
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6308000-6372600	Weak transcription	HMEC	breast
2	chr8:6317800-6380200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:6325800-6374400	Weak transcription	K562	blood
4	chr8:6336800-6377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:6338800-6389600	Weak transcription	HSMMtube	muscle
6	chr8:6340400-6371600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:6340800-6371800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr8:6341000-6372000	Weak transcription	A549	lung
9	chr8:6341000-6375000	Weak transcription	Brain Angular Gyrus	brain
10	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:6345800-6402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:6346200-6386000	Weak transcription	NH-A	brain
13	chr8:6352000-6375600	Weak transcription	Aorta	Aorta
14	chr8:6352400-6391400	Weak transcription	Ovary	ovary
15	chr8:6352600-6372800	Weak transcription	Brain Substantia Nigra	brain
16	chr8:6355600-6372800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr8:6355800-6373000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:6357800-6391400	Weak transcription	Colonic Mucosa	Colon
19	chr8:6359000-6374800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:6359200-6374000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr8:6359200-6389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:6360400-6386200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:6360600-6373800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:6360800-6371800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:6360800-6383800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:6361200-6372000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:6361200-6372800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:6361200-6372800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:6361200-6375200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:6361200-6375800	Weak transcription	Right Ventricle	heart
31	chr8:6361200-6378000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:6361200-6380800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:6361200-6386000	Weak transcription	Fetal Intestine Large	intestine
34	chr8:6361400-6372600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:6361400-6372600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:6361400-6372800	Weak transcription	Brain Anterior Caudate	brain
37	chr8:6361400-6380000	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:6362400-6372600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:6362600-6378200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:6364200-6372200	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:6364200-6372800	Weak transcription	Pancreas	Pancrea
42	chr8:6364200-6377200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:6364200-6417200	Weak transcription	Fetal Kidney	kidney
44	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:6364800-6373000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr8:6365800-6372400	Weak transcription	Fetal Heart	heart
47	chr8:6366600-6376600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:6366800-6389800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:6367200-6417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr8:6367400-6389200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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