Variant report

Variant	nsv438031
Chromosome Location	chr8:6120950-6159854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6139049..6141857-chr8:6147372..6149538,2	K562	blood:
2	chr8:6117190..6120021-chr8:6122326..6123985,2	K562	blood:
3	chr8:6145627..6147844-chr8:6162410..6164202,2	MCF-7	breast:
4	chr8:6139049..6141857-chr8:6147372..6149538,2	K562	blood:

Extended variants
information (count: 2051 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:2051 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4570185	chr8:6120950-6120951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191737824	chr8:6120990-6120991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145883319	chr8:6121005-6121006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570224073	chr8:6121015-6121016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182994803	chr8:6121018-6121019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186209226	chr8:6121030-6121031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543568608	chr8:6121033-6121034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191073636	chr8:6121040-6121041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183244042	chr8:6121044-6121045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73192609	chr8:6121052-6121053	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs187710440	chr8:6121107-6121108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547475870	chr8:6121114-6121115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138487079	chr8:6121117-6121118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370416640	chr8:6121131-6121132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533210488	chr8:6121181-6121182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549688421	chr8:6121188-6121189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569529405	chr8:6122210-6122211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189742970	chr8:6122220-6122221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556899385	chr8:6122224-6122225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371354718	chr8:6122259-6122260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573667098	chr8:6122270-6122271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537981652	chr8:6122273-6122274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149898973	chr8:6122274-6122275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181547166	chr8:6122281-6122282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572744514	chr8:6122311-6122312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544802534	chr8:6122321-6122322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564865818	chr8:6122355-6122356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575480833	chr8:6122370-6122371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544295855	chr8:6122382-6122383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370470700	chr8:6122402-6122403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373977642	chr8:6122403-6122404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561308216	chr8:6122408-6122409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4518687	chr8:6122409-6122410	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs201293016	chr8:6122428-6122429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73192613	chr8:6122475-6122476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560557483	chr8:6122483-6122484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532800563	chr8:6122501-6122502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577990065	chr8:6122520-6122521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73192615	chr8:6122536-6122537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs569482303	chr8:6122537-6122538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538494253	chr8:6122540-6122541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557097768	chr8:6122570-6122571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185679592	chr8:6122577-6122578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567215162	chr8:6122620-6122621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535838989	chr8:6122647-6122648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs202158733	chr8:6122653-6122654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11782166	chr8:6122654-6122655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs373187925	chr8:6122655-6122656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201324633	chr8:6122667-6122668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538481430	chr8:6122693-6122694	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
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
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
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6120000-6121000	Weak transcription	Brain Germinal Matrix	brain
2	chr8:6120800-6121200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:6121000-6121200	Enhancers	Brain Germinal Matrix	brain
4	chr8:6122200-6123200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:6128200-6128600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:6132000-6132800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:6132200-6132800	Enhancers	Spleen	Spleen
8	chr8:6132200-6133600	Enhancers	Pancreas	Pancrea
9	chr8:6132800-6134800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:6132800-6149000	Weak transcription	Spleen	Spleen
11	chr8:6134800-6135000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:6138400-6141200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:6140200-6140400	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr8:6140800-6141000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr8:6141200-6141400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:6141400-6144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:6144400-6144600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:6144600-6147200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:6147200-6147400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:6147200-6148200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:6147200-6148200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:6147200-6148200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr8:6147200-6148600	Enhancers	Primary hematopoietic stem cells	blood
24	chr8:6147200-6148600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:6147200-6148600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:6147200-6148800	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:6147600-6147800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr8:6147800-6148000	Enhancers	Duodenum Mucosa	Duodenum
29	chr8:6147800-6148200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr8:6147800-6148200	Enhancers	Adipose Nuclei	Adipose
31	chr8:6147800-6148200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:6147800-6148800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr8:6147800-6148800	Enhancers	Primary B cells from cord blood	blood
34	chr8:6148000-6149000	Enhancers	Primary B cells from peripheral blood	blood
35	chr8:6148000-6149000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr8:6148200-6148600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:6148200-6149000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr8:6148200-6149400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr8:6148200-6149600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr8:6148600-6149000	Enhancers	Brain Cingulate Gyrus	brain
41	chr8:6148600-6149400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:6148600-6149400	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr8:6148600-6149600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:6148600-6149800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:6148800-6149000	Bivalent/Poised TSS	Adipose Nuclei	Adipose
46	chr8:6148800-6149000	Enhancers	GM12878-XiMat	blood
47	chr8:6148800-6149200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:6148800-6149200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr8:6148800-6149400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr8:6148800-6149400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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