Variant report

Variant	esv3399250
Chromosome Location	chr8:35418810-35422308
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373574245	chr8:35418825-35418826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542901249	chr8:35418895-35418896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182371580	chr8:35418903-35418904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73674023	chr8:35418929-35418930	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs188019283	chr8:35418949-35418950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576805846	chr8:35419038-35419039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs59776488	chr8:35419045-35419046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140887778	chr8:35419090-35419091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116714890	chr8:35419135-35419136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192586076	chr8:35419211-35419212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35972407	chr8:35419235-35419236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184466521	chr8:35419275-35419276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74955707	chr8:35419278-35419279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2589760	chr8:35419308-35419309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527632157	chr8:35419342-35419343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56276341	chr8:35419362-35419363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs115453469	chr8:35419386-35419387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367623899	chr8:35419387-35419388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144833972	chr8:35419408-35419409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150892538	chr8:35419415-35419416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7832996	chr8:35419451-35419452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7833005	chr8:35419465-35419466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553388977	chr8:35419484-35419485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571702121	chr8:35419587-35419588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572287426	chr8:35419589-35419590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139409171	chr8:35419596-35419597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554850381	chr8:35419608-35419609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188996238	chr8:35419649-35419650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544015666	chr8:35419653-35419654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565314636	chr8:35419678-35419679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150072304	chr8:35419742-35419743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541534801	chr8:35419760-35419761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559839659	chr8:35419776-35419777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546073355	chr8:35419809-35419810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564107179	chr8:35419810-35419811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375937913	chr8:35419816-35419817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7834535	chr8:35419824-35419825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs550362956	chr8:35419945-35419946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531487012	chr8:35419962-35419963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192664443	chr8:35419964-35419965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7821725	chr8:35420001-35420002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs184529996	chr8:35420002-35420003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547091644	chr8:35420059-35420060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188893262	chr8:35420174-35420175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531345209	chr8:35420244-35420245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115744588	chr8:35420248-35420249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570354716	chr8:35420268-35420269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145181674	chr8:35420300-35420301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559152883	chr8:35420324-35420325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548541561	chr8:35420342-35420343	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35414800-35424200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:35415000-35423400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:35415000-35431000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:35416000-35419200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:35416200-35419000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:35416400-35419000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:35417800-35419200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:35418000-35419000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr8:35418000-35419000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:35418200-35419000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:35418200-35419000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:35418200-35419000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:35418200-35419000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:35418400-35419000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr8:35418400-35419000	Enhancers	H9 Cell Line	embryonic stem cell
16	chr8:35418800-35423000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:35418800-35423200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:35419000-35421600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:35419000-35423200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:35419000-35423400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:35419000-35430200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:35419000-35439400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:35419000-35439600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:35419200-35423000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:35419200-35427600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:35421800-35422000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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