Variant report

Variant	nsv609536
Chromosome Location	chr8:1789588-1790467
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	chr8:1784051..1785744-chr8:1790168..1791878,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12114762	chr8:1789588-1789589	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565203841	chr8:1789617-1789618	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs527477136	chr8:1789618-1789619	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs7015432	chr8:1789627-1789628	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs560343965	chr8:1789628-1789629	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs529390854	chr8:1789655-1789656	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs186463751	chr8:1789671-1789672	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528330401	chr8:1789678-1789679	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376181523	chr8:1789685-1789686	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs12114758	chr8:1789692-1789693	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551655562	chr8:1789693-1789694	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs369625201	chr8:1789694-1789695	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs6991729	chr8:1789710-1789711	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs189357978	chr8:1789721-1789722	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554350001	chr8:1789731-1789732	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs141741358	chr8:1789743-1789744	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs567937080	chr8:1789754-1789755	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs150781741	chr8:1789785-1789786	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs556017230	chr8:1789787-1789788	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs570511795	chr8:1789790-1789791	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs139759006	chr8:1789798-1789799	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs538681449	chr8:1789807-1789808	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs35113952	chr8:1789817-1789818	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs386720692	chr8:1789819-1789820	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs149805132	chr8:1789821-1789822	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs6992040	chr8:1789844-1789845	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs372615467	chr8:1789853-1789854	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574582035	chr8:1789870-1789871	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs375640457	chr8:1789887-1789888	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs543087504	chr8:1789893-1789894	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs562690038	chr8:1789895-1789896	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs531588228	chr8:1789899-1789900	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs551373184	chr8:1789905-1789906	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs565194845	chr8:1789915-1789916	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs145771280	chr8:1789926-1789927	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs74944972	chr8:1789976-1789977	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs180930695	chr8:1789978-1789979	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs76008024	chr8:1789984-1789985	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs549896321	chr8:1789994-1789995	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs569804788	chr8:1789996-1789997	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs186227825	chr8:1790002-1790003	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs190699617	chr8:1790014-1790015	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs541425469	chr8:1790020-1790021	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs559454000	chr8:1790022-1790023	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs538597954	chr8:1790074-1790075	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs558589694	chr8:1790076-1790077	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs183461766	chr8:1790104-1790105	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs534932444	chr8:1790110-1790111	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs554596614	chr8:1790112-1790113	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186322105	chr8:1790122-1790123	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	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
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Tetralogy of Fallot	22912587	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1772800-1790800	Weak transcription	HSMMtube	muscle
2	chr8:1772800-1791400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:1774000-1845000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:1774600-1790200	Weak transcription	Colonic Mucosa	Colon
5	chr8:1775000-1790400	Weak transcription	Brain Germinal Matrix	brain
6	chr8:1775200-1792400	Weak transcription	Fetal Lung	lung
7	chr8:1778400-1790400	Weak transcription	Osteobl	bone
8	chr8:1778600-1790400	Weak transcription	HUVEC	blood vessel
9	chr8:1779200-1790400	Weak transcription	NH-A	brain
10	chr8:1780200-1790800	Weak transcription	HSMM	muscle
11	chr8:1780400-1790400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:1780400-1790400	Weak transcription	NHEK	skin
13	chr8:1780600-1790400	Weak transcription	Esophagus	oesophagus
14	chr8:1780600-1792600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:1780600-1808800	Weak transcription	Hela-S3	cervix
16	chr8:1783400-1791600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:1783600-1792200	Weak transcription	Fetal Intestine Small	intestine
18	chr8:1783800-1790200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:1783800-1792200	Weak transcription	Placenta	Placenta
20	chr8:1784000-1789600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:1784000-1789600	Weak transcription	Adipose Nuclei	Adipose
22	chr8:1784000-1790400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:1784000-1790400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:1784000-1791000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:1784000-1791600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:1784000-1792000	Weak transcription	A549	lung
27	chr8:1784200-1791000	Weak transcription	NHLF	lung
28	chr8:1784200-1792400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:1784600-1790600	Weak transcription	Aorta	Aorta
30	chr8:1784800-1791200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:1784800-1791600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:1785000-1789600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:1785000-1790400	Weak transcription	HMEC	breast
34	chr8:1785600-1790800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:1786400-1790400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:1787000-1789800	Weak transcription	Fetal Heart	heart
37	chr8:1787000-1790400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:1787000-1790400	Weak transcription	NHDF-Ad	bronchial
39	chr8:1787000-1790800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:1787200-1789600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:1787200-1790400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:1787400-1790400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:1787400-1790400	Weak transcription	Spleen	Spleen
44	chr8:1787600-1791200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:1788200-1789800	Enhancers	Brain Cingulate Gyrus	brain
46	chr8:1788600-1789600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr8:1788600-1789600	Genic enhancers	Gastric	stomach
48	chr8:1788600-1790000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr8:1788600-1791200	Enhancers	Brain Hippocampus Middle	brain
50	chr8:1788600-1791600	Enhancers	Right Atrium	heart

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