Variant report

Variant	esv2764070
Chromosome Location	chr8:34832017-34857556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 815 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:815 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186327546	chr8:34836847-34836848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189556310	chr8:34836905-34836906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564793519	chr8:34836907-34836908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572829008	chr8:34836908-34836909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528665310	chr8:34836912-34836913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181440673	chr8:34836925-34836926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568519886	chr8:34836995-34836996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373495397	chr8:34837006-34837007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114133720	chr8:34837017-34837018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550691740	chr8:34837019-34837020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76304104	chr8:34837029-34837030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186120361	chr8:34837063-34837064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191374252	chr8:34837079-34837080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576734734	chr8:34837150-34837151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78597964	chr8:34837191-34837192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117252388	chr8:34837249-34837250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574184905	chr8:34837262-34837263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113788637	chr8:34837282-34837283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563118719	chr8:34837311-34837312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575150984	chr8:34837321-34837322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533640090	chr8:34837327-34837328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4503095	chr8:34837357-34837358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564732076	chr8:34837361-34837362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528798172	chr8:34837411-34837412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547212085	chr8:34837422-34837423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562311044	chr8:34837463-34837464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146762337	chr8:34837469-34837470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551024182	chr8:34837480-34837481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576538902	chr8:34837488-34837489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569267151	chr8:34837532-34837533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183203648	chr8:34837566-34837567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551364674	chr8:34837593-34837594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570409135	chr8:34837617-34837618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534638648	chr8:34837677-34837678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186008164	chr8:34837717-34837718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139373805	chr8:34837762-34837763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115834694	chr8:34837763-34837764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6988924	chr8:34837768-34837769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs575255357	chr8:34837788-34837789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150978268	chr8:34837797-34837798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575816140	chr8:34837816-34837817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557834585	chr8:34837842-34837843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370868357	chr8:34837869-34837870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573568793	chr8:34837879-34837880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540963283	chr8:34837935-34837936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117010597	chr8:34838002-34838003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375829391	chr8:34838063-34838064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529454191	chr8:34838141-34838142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543342788	chr8:34838165-34838166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77258478	chr8:34838174-34838175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	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
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
Seminomas	18059402	CNVD
Lung cancer	18438408	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
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34836800-34844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:34840600-34842600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:34840800-34842000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:34841200-34842600	Enhancers	NH-A	brain
5	chr8:34841400-34841600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:34841400-34841600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:34841400-34841600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:34841400-34841600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:34841400-34841600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:34841400-34841600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:34841400-34841800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:34841400-34841800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:34841400-34842000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:34841400-34842600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:34841400-34842600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:34841400-34842800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:34841400-34842800	Enhancers	HMEC	breast
18	chr8:34841400-34843200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:34841400-34844800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:34841600-34841800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:34841600-34842000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr8:34841600-34842600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:34841600-34843600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:34841800-34842400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:34841800-34842800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:34841800-34842800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:34841800-34842800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:34842000-34842400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr8:34842000-34842400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:34842400-34843000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:34842400-34844000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:34842400-34844400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr8:34842400-34844400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr8:34842600-34842800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr8:34842600-34844400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr8:34842800-34843800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:34842800-34844000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:34842800-34844200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:34842800-34844400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:34843000-34843400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:34843000-34843400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr8:34843000-34844200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr8:34843200-34843400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr8:34843400-34843600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr8:34843400-34843600	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr8:34843400-34843800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr8:34843400-34844400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:34843600-34843800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr8:34843600-34844000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr8:34843600-34844400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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