Variant report

Variant	nsv1021225
Chromosome Location	chr8:19554860-19586580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:15576054..15577034-chr8:19564095..19564922,2	Hela-S3	cervix:
2	chr8:19552184..19554316-chr8:19556580..19558198,2	MCF-7	breast:
3	chr8:19391042..19393600-chr8:19578654..19580566,2	MCF-7	breast:

Extended variants
information (count: 1477 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:1477 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575517679	chr8:19554919-19554920	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116487485	chr8:19554927-19554928	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546720461	chr8:19554932-19554933	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536185163	chr8:19554951-19554952	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560448683	chr8:19554973-19554974	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529193116	chr8:19554976-19554977	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569364833	chr8:19554990-19554991	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12114790	chr8:19554995-19554996	Weak transcription Enhancers Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs73216651	chr8:19555020-19555021	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs117612438	chr8:19555022-19555023	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148970942	chr8:19555034-19555035	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565379657	chr8:19555054-19555055	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143840833	chr8:19555090-19555091	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533843409	chr8:19555128-19555129	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372732128	chr8:19555190-19555191	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553492211	chr8:19555204-19555205	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147744755	chr8:19555210-19555211	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6586858	chr8:19555222-19555223	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556131120	chr8:19555241-19555242	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578201146	chr8:19555258-19555259	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575989279	chr8:19555288-19555289	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73216653	chr8:19555302-19555303	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115370249	chr8:19555349-19555350	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34601888	chr8:19555350-19555351	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11784365	chr8:19555356-19555357	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs142361100	chr8:19555364-19555365	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367757506	chr8:19555395-19555396	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1492636	chr8:19555398-19555399	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs529320267	chr8:19555449-19555450	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376788206	chr8:19555478-19555479	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146347853	chr8:19555515-19555516	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542588361	chr8:19555516-19555517	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183112054	chr8:19555570-19555571	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531491654	chr8:19555576-19555577	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551170130	chr8:19555579-19555580	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571374361	chr8:19555584-19555585	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560303777	chr8:19555611-19555612	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527416494	chr8:19555612-19555613	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547434975	chr8:19555614-19555615	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139000806	chr8:19555624-19555625	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536282667	chr8:19555671-19555672	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187031777	chr8:19555691-19555692	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556194176	chr8:19555711-19555712	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141481811	chr8:19555712-19555713	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150416183	chr8:19555714-19555715	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558087598	chr8:19555760-19555761	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10090551	chr8:19555762-19555763	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs191937608	chr8:19555763-19555764	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540453271	chr8:19555778-19555779	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554268228	chr8:19555817-19555818	Enhancers Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	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
Breast cancer	22522925	CNVD
Melanoma	20688739	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19541000-19567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:19548200-19559200	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:19549600-19555200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:19550200-19556000	Enhancers	Fetal Thymus	thymus
5	chr8:19550200-19558600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:19550200-19558600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:19550400-19558400	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:19551000-19556000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:19551800-19558200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:19552000-19555200	Enhancers	Adipose Nuclei	Adipose
11	chr8:19552000-19555400	Enhancers	Right Atrium	heart
12	chr8:19552400-19555400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr8:19552400-19558600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr8:19552800-19557800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:19553000-19555600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr8:19553200-19555200	Enhancers	Duodenum Mucosa	Duodenum
17	chr8:19553600-19555000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr8:19553600-19555800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:19553600-19556000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr8:19553800-19555000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr8:19553800-19555000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr8:19553800-19555000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr8:19553800-19555200	Enhancers	Fetal Muscle Leg	muscle
24	chr8:19553800-19555200	Enhancers	Rectal Smooth Muscle	rectum
25	chr8:19553800-19555400	Enhancers	Right Ventricle	heart
26	chr8:19554000-19555000	Enhancers	Esophagus	oesophagus
27	chr8:19554000-19555000	Enhancers	Placenta	Placenta
28	chr8:19554000-19555000	Weak transcription	Fetal Stomach	stomach
29	chr8:19554000-19555000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:19554000-19555000	Flanking Active TSS	Dnd41	blood
31	chr8:19554000-19555200	Enhancers	Lung	lung
32	chr8:19554000-19555400	Enhancers	Left Ventricle	heart
33	chr8:19554000-19555400	Enhancers	Spleen	Spleen
34	chr8:19554200-19555000	Strong transcription	A549	lung
35	chr8:19554200-19555400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:19554200-19555400	Enhancers	Colonic Mucosa	Colon
37	chr8:19554400-19555600	Enhancers	Fetal Lung	lung
38	chr8:19554400-19555800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr8:19554600-19555000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr8:19554600-19555000	Weak transcription	Fetal Brain Male	brain
41	chr8:19554600-19555000	Enhancers	Pancreas	Pancrea
42	chr8:19554600-19555200	Enhancers	Brain Hippocampus Middle	brain
43	chr8:19554600-19555200	Enhancers	Colon Smooth Muscle	Colon
44	chr8:19554600-19555200	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr8:19554600-19555200	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr8:19554600-19555800	Enhancers	Fetal Brain Female	brain
47	chr8:19554600-19556000	Enhancers	Primary T cells fromperipheralblood	blood
48	chr8:19554600-19556000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:19554600-19556400	Enhancers	Thymus	Thymus
50	chr8:19554600-19557800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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