Variant report

Variant	nsv609992
Chromosome Location	chr8:6149130-6175643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:6175216..6177017-chr8:6178392..6180174,2	K562	blood:
2	chr8:6145627..6147844-chr8:6162410..6164202,2	MCF-7	breast:
3	chr8:6139049..6141857-chr8:6147372..6149538,2	K562	blood:

Extended variants
information (count: 1679 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:1679 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11137000	chr8:6149130-6149131	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140039298	chr8:6149131-6149132	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs531897157	chr8:6149158-6149159	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs550578815	chr8:6149165-6149166	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs189879755	chr8:6149171-6149172	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs529855138	chr8:6149190-6149191	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368954304	chr8:6149202-6149203	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs546676923	chr8:6149226-6149227	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs193183647	chr8:6149235-6149236	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs538796509	chr8:6149283-6149284	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs185501777	chr8:6149286-6149287	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs569164141	chr8:6149304-6149305	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569442845	chr8:6149305-6149306	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs151226787	chr8:6149317-6149318	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs537904260	chr8:6149352-6149353	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs534032558	chr8:6149358-6149359	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs553822738	chr8:6149361-6149362	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577381596	chr8:6149422-6149423	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs546412318	chr8:6149447-6149448	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs372981637	chr8:6149452-6149453	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs562917767	chr8:6149457-6149458	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs576719726	chr8:6149458-6149459	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs189623706	chr8:6149467-6149468	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs573104549	chr8:6149477-6149478	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs560875204	chr8:6149480-6149481	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs529664430	chr8:6149494-6149495	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs140271566	chr8:6149528-6149529	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs149932686	chr8:6149547-6149548	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs112838704	chr8:6149549-6149550	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs111508639	chr8:6149551-6149552	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs558303358	chr8:6149560-6149561	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs28438020	chr8:6149575-6149576	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs578045185	chr8:6149582-6149583	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs538153187	chr8:6149659-6149660	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs562208235	chr8:6149669-6149670	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs548036356	chr8:6149696-6149697	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs568138556	chr8:6149747-6149748	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs533899939	chr8:6149748-6149749	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs553734888	chr8:6149765-6149766	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs577296921	chr8:6149784-6149785	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs534168230	chr8:6149793-6149794	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs539547115	chr8:6149801-6149802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556756584	chr8:6149803-6149804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs180876967	chr8:6149813-6149814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369961748	chr8:6149823-6149824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76530997	chr8:6149829-6149830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs398112150	chr8:6149836-6149837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542542058	chr8:6149842-6149843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575930106	chr8:6149855-6149856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562339408	chr8:6149870-6149871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6148200-6149400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr8:6148200-6149600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr8:6148600-6149400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:6148600-6149400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr8:6148600-6149600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:6148600-6149800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:6148800-6149200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:6148800-6149200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr8:6148800-6149400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:6148800-6149400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
11	chr8:6148800-6149400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr8:6148800-6149400	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr8:6148800-6149400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:6149000-6149200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
15	chr8:6149000-6149400	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr8:6149000-6149400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr8:6149000-6149400	Enhancers	Fetal Thymus	thymus
18	chr8:6149000-6149400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr8:6149000-6149400	Enhancers	Spleen	Spleen
20	chr8:6149000-6149400	Flanking Active TSS	GM12878-XiMat	blood
21	chr8:6149000-6149400	Enhancers	NHDF-Ad	bronchial
22	chr8:6149000-6149600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:6149000-6149600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr8:6149000-6149800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:6149000-6149800	Enhancers	Osteobl	bone
26	chr8:6149200-6149400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:6149400-6149600	Enhancers	Primary B cells from cord blood	blood
28	chr8:6149400-6149600	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:6149400-6149600	Active TSS	Duodenum Mucosa	Duodenum
30	chr8:6149400-6149600	Enhancers	GM12878-XiMat	blood
31	chr8:6149400-6150200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:6149400-6150600	Enhancers	Primary hematopoietic stem cells	blood
33	chr8:6149400-6150800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr8:6149600-6149800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr8:6149600-6150200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr8:6149600-6150600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:6149600-6151400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:6149600-6152000	Weak transcription	GM12878-XiMat	blood
39	chr8:6149600-6154000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:6149800-6150200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:6149800-6154000	Weak transcription	Osteobl	bone
42	chr8:6150200-6151800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr8:6150200-6152000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr8:6150800-6154000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:6151400-6152400	Enhancers	Primary B cells from peripheral blood	blood
46	chr8:6151800-6152400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr8:6152000-6152400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr8:6152000-6152800	Enhancers	GM12878-XiMat	blood
49	chr8:6152200-6152400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr8:6154000-6154400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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