Variant report

Variant	esv3382928
Chromosome Location	chr8:20361672-20363920
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	chr8:20359613..20362385-chr8:20365022..20367728,2	K562	blood:

Extended variants
information (count: 163 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565940084	chr8:20361678-20361679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150954411	chr8:20361680-20361681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557982247	chr8:20361703-20361704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183513491	chr8:20361706-20361707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189553474	chr8:20361738-20361739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7823495	chr8:20361751-20361752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7823499	chr8:20361763-20361764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541721273	chr8:20361768-20361769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553850281	chr8:20361786-20361787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571936372	chr8:20361804-20361805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7828340	chr8:20361896-20361897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564027998	chr8:20361920-20361921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143237857	chr8:20361957-20361958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376416082	chr8:20361958-20361959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11415923	chr8:20361964-20361965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs398038532	chr8:20361967-20361968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372304135	chr8:20361968-20361969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140698727	chr8:20361981-20361982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377189267	chr8:20362084-20362085	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs145900087	chr8:20362094-20362095	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561524497	chr8:20362122-20362123	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs529197594	chr8:20362208-20362209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181115012	chr8:20362251-20362252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565928358	chr8:20362273-20362274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370770236	chr8:20362293-20362294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13439268	chr8:20362296-20362297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13439342	chr8:20362297-20362298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374987339	chr8:20362308-20362309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199749867	chr8:20362309-20362310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13439270	chr8:20362312-20362313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560109941	chr8:20362315-20362316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376583153	chr8:20362319-20362320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551725655	chr8:20362327-20362328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201865416	chr8:20362328-20362329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71222153	chr8:20362333-20362334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35840111	chr8:20362334-20362335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13439272	chr8:20362342-20362343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537525774	chr8:20362349-20362350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556022542	chr8:20362350-20362351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71222154	chr8:20362356-20362357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74389487	chr8:20362357-20362358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13439273	chr8:20362358-20362359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13439343	chr8:20362359-20362360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13439274	chr8:20362365-20362366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191543516	chr8:20362375-20362376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181756189	chr8:20362380-20362381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13439275	chr8:20362388-20362389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567853820	chr8:20362389-20362390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186371622	chr8:20362398-20362399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375726626	chr8:20362403-20362404	Weak transcription	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	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
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20353400-20363800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:20359400-20365000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:20359800-20362000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:20359800-20364000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:20359800-20364200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:20360000-20363400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:20360200-20364000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:20360200-20364000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:20360200-20364200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:20361000-20365000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:20362000-20362200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:20362200-20365400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:20363400-20365200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:20363800-20365400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:20363800-20365400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr8:20363800-20367600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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