Variant report

Variant	esv2530621
Chromosome Location	chr8:35221951-35223209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374513397	chr8:35221956-35221957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183956461	chr8:35221961-35221962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539617744	chr8:35221968-35221969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139308321	chr8:35221986-35221987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201390190	chr8:35221991-35221992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143321039	chr8:35222034-35222035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546935474	chr8:35222049-35222050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555478328	chr8:35222060-35222061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573935765	chr8:35222089-35222090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188605300	chr8:35222093-35222094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190816661	chr8:35222100-35222101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367653574	chr8:35222141-35222142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563544747	chr8:35222185-35222186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575587681	chr8:35222214-35222215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71541897	chr8:35222294-35222295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1528716	chr8:35222295-35222296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528220831	chr8:35222393-35222394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182634579	chr8:35222406-35222407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561539000	chr8:35222412-35222413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528825722	chr8:35222434-35222435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150495847	chr8:35222448-35222449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187003843	chr8:35222458-35222459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191782229	chr8:35222460-35222461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7005513	chr8:35222476-35222477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs182700545	chr8:35222537-35222538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567005071	chr8:35222545-35222546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187644531	chr8:35222589-35222590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77030312	chr8:35222651-35222652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567683726	chr8:35222661-35222662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149571536	chr8:35222673-35222674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528573568	chr8:35222693-35222694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556581504	chr8:35222705-35222706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575650933	chr8:35222709-35222710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113871842	chr8:35222788-35222789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144274767	chr8:35222794-35222795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540452170	chr8:35222864-35222865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565035373	chr8:35222880-35222881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140088553	chr8:35222918-35222919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557671969	chr8:35222922-35222923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572953554	chr8:35222943-35222944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75887636	chr8:35222960-35222961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561795861	chr8:35222982-35222983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201842714	chr8:35223001-35223002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528936034	chr8:35223005-35223006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543842285	chr8:35223008-35223009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs207469055	chr8:35223020-35223021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562137348	chr8:35223052-35223053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141707661	chr8:35223069-35223070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552008089	chr8:35223105-35223106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs36017524	chr8:35223109-35223110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35211200-35231000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:35212400-35222600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:35212800-35225200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:35220800-35225000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:35221000-35230800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:35221200-35225600	Weak transcription	Fetal Brain Male	brain
7	chr8:35221200-35231000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:35221200-35231000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:35222600-35222800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:35222800-35230800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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