Variant report

Variant	esv3480672
Chromosome Location	chr8:1467445-1471743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 350 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76000604	chr8:1467447-1467448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187639819	chr8:1467452-1467453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552138132	chr8:1467454-1467455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563042934	chr8:1467458-1467459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35840589	chr8:1467480-1467481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571949012	chr8:1467524-1467525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527305997	chr8:1467542-1467543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547382701	chr8:1467553-1467554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35873677	chr8:1467560-1467561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs200021889	chr8:1467561-1467562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527817239	chr8:1467566-1467567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77217447	chr8:1467614-1467615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6558477	chr8:1467634-1467635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs9314433	chr8:1467648-1467649	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145327919	chr8:1467655-1467656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148014298	chr8:1467659-1467660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533945670	chr8:1467680-1467681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117063574	chr8:1467720-1467721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140700588	chr8:1467730-1467731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543153152	chr8:1467735-1467736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562830718	chr8:1467744-1467745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531619740	chr8:1467748-1467749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7815339	chr8:1467753-1467754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs150098072	chr8:1467764-1467765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527948461	chr8:1467765-1467766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192747051	chr8:1467778-1467779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547084144	chr8:1467780-1467781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560987944	chr8:1467798-1467799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571501186	chr8:1467804-1467805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529650303	chr8:1467819-1467820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549881204	chr8:1467833-1467834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569626114	chr8:1467846-1467847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138622996	chr8:1467851-1467852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184144367	chr8:1467854-1467855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111449223	chr8:1467871-1467872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534558568	chr8:1467873-1467874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113729259	chr8:1467876-1467877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372877260	chr8:1467887-1467888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574017637	chr8:1467906-1467907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547214643	chr8:1467931-1467932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73672784	chr8:1467938-1467939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556641766	chr8:1467958-1467959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576572000	chr8:1467977-1467978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565559683	chr8:1467996-1467997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188278266	chr8:1468018-1468019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572675736	chr8:1468022-1468023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373797472	chr8:1468043-1468044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115991771	chr8:1468055-1468056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560205903	chr8:1468067-1468068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs118006819	chr8:1468080-1468081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	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
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1456200-1471400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1466000-1470400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:1471400-1471600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:1471600-1472400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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