Variant report

Variant	nsv610760
Chromosome Location	chr8:19588133-19590218
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	chr12:62432949..62433664-chr8:19587439..19588269,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSD3-3	chr8:19589967-19590077	NONHSAT125379

Extended variants
information (count: 74 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10111307	chr8:19588133-19588134	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1388940	chr8:19588147-19588148	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs114681877	chr8:19588174-19588175	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs71510659	chr8:19588226-19588227	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs138057403	chr8:19588362-19588363	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs181803130	chr8:19588446-19588447	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531997179	chr8:19588447-19588448	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187196088	chr8:19588455-19588456	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61477227	chr8:19588475-19588476	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570025030	chr8:19588485-19588486	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578038403	chr8:19588565-19588566	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554438139	chr8:19588566-19588567	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190923481	chr8:19588587-19588588	Enhancers Genic enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28580167	chr8:19588628-19588629	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs537581594	chr8:19588640-19588641	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59309315	chr8:19588649-19588650	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs11787285	chr8:19588655-19588656	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539113603	chr8:19588656-19588657	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182634112	chr8:19588730-19588731	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543302480	chr8:19588745-19588746	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574640748	chr8:19588880-19588881	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541778798	chr8:19588882-19588883	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34451682	chr8:19588932-19588933	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149509952	chr8:19588936-19588937	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144177030	chr8:19588944-19588945	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574557500	chr8:19588997-19588998	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558315780	chr8:19589004-19589005	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543569688	chr8:19589022-19589023	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576668922	chr8:19589050-19589051	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528810682	chr8:19589076-19589077	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17481744	chr8:19589113-19589114	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370293862	chr8:19589207-19589208	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186231860	chr8:19589236-19589237	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190031550	chr8:19589298-19589299	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558966927	chr8:19589299-19589300	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182706992	chr8:19589327-19589328	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547780526	chr8:19589381-19589382	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545854035	chr8:19589388-19589389	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567912266	chr8:19589423-19589424	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536466420	chr8:19589475-19589476	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75148920	chr8:19589667-19589668	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187344155	chr8:19589671-19589672	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139961712	chr8:19589683-19589684	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141811069	chr8:19589702-19589703	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1107613	chr8:19589706-19589707	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs568186831	chr8:19589755-19589756	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534978566	chr8:19589771-19589772	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554584251	chr8:19589773-19589774	Enhancers Weak transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574649418	chr8:19589811-19589812	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192098640	chr8:19589813-19589814	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Lung adenocarcinoma	21935476	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19575400-19596800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr8:19576400-19591800	Weak transcription	Primary B cells from cord blood	blood
3	chr8:19577800-19599000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:19578200-19591400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:19580200-19588200	Weak transcription	Pancreas	Pancrea
6	chr8:19583600-19592400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:19584000-19589000	Weak transcription	Fetal Lung	lung
8	chr8:19584400-19589400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr8:19585400-19588400	Weak transcription	Esophagus	oesophagus
10	chr8:19585400-19591200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:19585800-19588200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:19586600-19588200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr8:19586600-19588600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:19586800-19589000	Enhancers	Left Ventricle	heart
15	chr8:19587200-19588400	Flanking Active TSS	Fetal Heart	heart
16	chr8:19587200-19588400	Enhancers	HSMMtube	muscle
17	chr8:19587200-19589000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:19587200-19589000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr8:19587200-19589200	Enhancers	Right Ventricle	heart
20	chr8:19587400-19597000	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:19587400-19602800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr8:19587600-19588400	Weak transcription	Right Atrium	heart
23	chr8:19587600-19591600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr8:19587600-19600800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:19587800-19588200	Enhancers	Brain Angular Gyrus	brain
26	chr8:19587800-19588400	Enhancers	Brain Anterior Caudate	brain
27	chr8:19587800-19588800	Enhancers	Fetal Muscle Leg	muscle
28	chr8:19587800-19589600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr8:19588000-19588200	Enhancers	Fetal Brain Female	brain
30	chr8:19588000-19588400	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:19588000-19588600	Enhancers	Placenta Amnion	Placenta Amnion
32	chr8:19588000-19588600	Strong transcription	A549	lung
33	chr8:19588000-19588800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr8:19588000-19589200	Weak transcription	Hela-S3	cervix
35	chr8:19588000-19589600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:19588000-19589600	Enhancers	Placenta	Placenta
37	chr8:19588000-19590000	Weak transcription	Primary T cells from cord blood	blood
38	chr8:19588200-19588400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:19588200-19588600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr8:19588200-19588600	Enhancers	Pancreas	Pancrea
41	chr8:19588200-19589000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:19588200-19589000	Enhancers	Fetal Muscle Trunk	muscle
43	chr8:19588200-19589600	Weak transcription	Fetal Brain Female	brain
44	chr8:19588200-19590000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr8:19588400-19588600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:19588400-19589000	Enhancers	Esophagus	oesophagus
47	chr8:19588400-19589000	Enhancers	Right Atrium	heart
48	chr8:19588400-19590200	Enhancers	Fetal Heart	heart
49	chr8:19588400-19591000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr8:19588600-19590400	Genic enhancers	A549	lung

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