Variant report

Variant	esv3485
Chromosome Location	chr8:19318931-19319275
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542899741	chr8:19318942-19318943	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs62496181	chr8:19318989-19318990	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs79548012	chr8:19318995-19318996	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs551133473	chr8:19319000-19319001	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73212549	chr8:19319003-19319004	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62496182	chr8:19319010-19319011	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571125195	chr8:19319014-19319015	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113923935	chr8:19319023-19319024	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111312975	chr8:19319027-19319028	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199849194	chr8:19319028-19319029	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74523900	chr8:19319030-19319031	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150491689	chr8:19319031-19319032	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377552300	chr8:19319037-19319038	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200196865	chr8:19319038-19319039	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191805245	chr8:19319044-19319045	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78187625	chr8:19319045-19319046	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75033252	chr8:19319046-19319047	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77286171	chr8:19319047-19319048	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111929198	chr8:19319054-19319055	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77982438	chr8:19319058-19319059	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527347185	chr8:19319059-19319060	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55803823	chr8:19319061-19319062	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77893317	chr8:19319062-19319063	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370621348	chr8:19319067-19319068	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113190869	chr8:19319080-19319081	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183474076	chr8:19319093-19319094	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75558406	chr8:19319097-19319098	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76322146	chr8:19319102-19319103	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78521475	chr8:19319108-19319109	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111462977	chr8:19319128-19319129	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372562038	chr8:19319145-19319146	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112902934	chr8:19319150-19319151	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111245288	chr8:19319163-19319164	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200452901	chr8:19319167-19319168	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201736650	chr8:19319168-19319169	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200854447	chr8:19319172-19319173	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137869571	chr8:19319178-19319179	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113537282	chr8:19319185-19319186	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369054979	chr8:19319198-19319199	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372826130	chr8:19319207-19319208	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567249666	chr8:19319209-19319210	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535908372	chr8:19319211-19319212	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs67954492	chr8:19319213-19319214	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112571785	chr8:19319220-19319221	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556009363	chr8:19319226-19319227	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369543931	chr8:19319230-19319231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201537973	chr8:19319233-19319234	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373673611	chr8:19319237-19319238	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112432596	chr8:19319238-19319239	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569476541	chr8:19319240-19319241	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic 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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19297600-19319000	Weak transcription	Spleen	Spleen
2	chr8:19300600-19319200	Weak transcription	Gastric	stomach
3	chr8:19306800-19322400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr8:19308200-19319000	Weak transcription	Lung	lung
5	chr8:19310600-19359600	Weak transcription	Ovary	ovary
6	chr8:19311400-19319400	Weak transcription	Thymus	Thymus
7	chr8:19313400-19327200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:19314200-19319000	Weak transcription	Right Atrium	heart
9	chr8:19314800-19322400	Enhancers	Fetal Thymus	thymus
10	chr8:19315800-19321400	Weak transcription	Adipose Nuclei	Adipose
11	chr8:19316200-19319000	Weak transcription	Fetal Stomach	stomach
12	chr8:19316200-19319400	Weak transcription	Primary B cells from cord blood	blood
13	chr8:19316200-19339200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr8:19316400-19322200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr8:19316400-19323800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:19316600-19319400	Enhancers	Fetal Muscle Leg	muscle
17	chr8:19316800-19319000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:19317400-19319400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:19317600-19321800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:19317600-19325800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:19317800-19319000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:19317800-19319000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr8:19317800-19320200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:19318000-19319000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:19318000-19319000	Enhancers	Brain Cingulate Gyrus	brain
26	chr8:19318000-19319200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:19318000-19319400	Enhancers	Placenta	Placenta
28	chr8:19318000-19319800	Genic enhancers	A549	lung
29	chr8:19318000-19320800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr8:19318000-19321400	Weak transcription	Fetal Brain Female	brain
31	chr8:19318000-19323200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr8:19318200-19319400	Enhancers	Right Ventricle	heart
33	chr8:19318200-19320200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:19318200-19322000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:19318200-19323400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:19318200-19325600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:19318400-19319000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:19318400-19319000	Enhancers	Pancreas	Pancrea
39	chr8:19318400-19319600	Enhancers	Left Ventricle	heart
40	chr8:19318400-19320200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:19318400-19320800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr8:19318400-19322000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr8:19318400-19323200	Enhancers	Primary T cells from cord blood	blood
44	chr8:19318600-19320200	Weak transcription	HepG2	liver
45	chr8:19318600-19321200	Weak transcription	Fetal Brain Male	brain
46	chr8:19318600-19322800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr8:19318600-19322800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:19318600-19325800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr8:19318800-19319000	Bivalent Enhancer	HSMMtube	muscle
50	chr8:19318800-19319200	Enhancers	Skeletal Muscle Female	skeletal muscle

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