Variant report

Variant	esv3328637
Chromosome Location	chr8:19306497-19309045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148802601	chr8:19306509-19306510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142437547	chr8:19306511-19306512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547779212	chr8:19306518-19306519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529825877	chr8:19306519-19306520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7830251	chr8:19306522-19306523	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530027376	chr8:19306551-19306552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560188790	chr8:19306564-19306565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373853648	chr8:19306611-19306612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112391147	chr8:19306617-19306618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7818345	chr8:19306618-19306619	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs538491628	chr8:19306637-19306638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188674422	chr8:19306640-19306641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7814793	chr8:19306681-19306682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181370815	chr8:19306711-19306712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184479804	chr8:19306717-19306718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554570992	chr8:19306735-19306736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577634606	chr8:19306769-19306770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189134255	chr8:19306802-19306803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543326911	chr8:19306845-19306846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28558362	chr8:19306869-19306870	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181835309	chr8:19306877-19306878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146303696	chr8:19306986-19306987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187426832	chr8:19307007-19307008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117378881	chr8:19307014-19307015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192097699	chr8:19307037-19307038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530072890	chr8:19307041-19307042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572118054	chr8:19307050-19307051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7835461	chr8:19307051-19307052	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs537615932	chr8:19307066-19307067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79595525	chr8:19307091-19307092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199705620	chr8:19307122-19307123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532131882	chr8:19307144-19307145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551965973	chr8:19307208-19307209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201343133	chr8:19307291-19307292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180875859	chr8:19307308-19307309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576158309	chr8:19307321-19307322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544063197	chr8:19307345-19307346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567954026	chr8:19307387-19307388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370680214	chr8:19307394-19307395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562716738	chr8:19307448-19307449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529917104	chr8:19307498-19307499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542107172	chr8:19307529-19307530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534692551	chr8:19307562-19307563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139516386	chr8:19307591-19307592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552360494	chr8:19307633-19307634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186062528	chr8:19307645-19307646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs202031704	chr8:19307660-19307661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138949881	chr8:19307671-19307672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187267716	chr8:19307677-19307678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548012805	chr8:19307734-19307735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Prostate cancer	22341455	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19277600-19307800	Weak transcription	Fetal Stomach	stomach
2	chr8:19283800-19307800	Weak transcription	Ovary	ovary
3	chr8:19291600-19308000	Weak transcription	Right Ventricle	heart
4	chr8:19295000-19318800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:19296600-19309400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:19296600-19317400	Weak transcription	Hela-S3	cervix
7	chr8:19297200-19309200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:19297400-19313400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:19297600-19307800	Weak transcription	Left Ventricle	heart
10	chr8:19297600-19308000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:19297600-19319000	Weak transcription	Spleen	Spleen
12	chr8:19300000-19313800	Weak transcription	Fetal Heart	heart
13	chr8:19300600-19319200	Weak transcription	Gastric	stomach
14	chr8:19301600-19317200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:19301800-19307800	Weak transcription	Right Atrium	heart
16	chr8:19302800-19317800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:19303000-19307800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr8:19303200-19307800	Weak transcription	Adipose Nuclei	Adipose
19	chr8:19303200-19307800	Weak transcription	Thymus	Thymus
20	chr8:19303200-19307800	Weak transcription	Dnd41	blood
21	chr8:19303200-19308000	Weak transcription	Primary B cells from cord blood	blood
22	chr8:19303200-19308000	Weak transcription	HepG2	liver
23	chr8:19303200-19309200	Weak transcription	Brain Angular Gyrus	brain
24	chr8:19303200-19309800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr8:19303200-19313800	Weak transcription	HUVEC	blood vessel
26	chr8:19303400-19306800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:19303400-19307800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:19303400-19315200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr8:19303800-19306800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:19303800-19307400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:19304000-19306800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr8:19304000-19306800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:19304200-19310200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:19304400-19308800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:19304800-19306800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr8:19304800-19307800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:19305200-19307800	Weak transcription	Fetal Thymus	thymus
38	chr8:19305600-19306800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:19305600-19313200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:19305600-19317600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr8:19305600-19318400	Weak transcription	Pancreas	Pancrea
42	chr8:19305800-19307200	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr8:19305800-19307200	Weak transcription	A549	lung
44	chr8:19305800-19313000	Weak transcription	Placenta	Placenta
45	chr8:19306000-19307400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr8:19306000-19307800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:19306200-19306600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr8:19306200-19307200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:19306200-19307800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:19306200-19309600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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