Variant report

Variant	esv1829713
Chromosome Location	chr8:5231127-5248026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1046 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:1046 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558596625	chr8:5231139-5231140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570487791	chr8:5231141-5231142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539212671	chr8:5231144-5231145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117330408	chr8:5231164-5231165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575484781	chr8:5231165-5231166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542923731	chr8:5231173-5231174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184776822	chr8:5231175-5231176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555253752	chr8:5231176-5231177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572924617	chr8:5231189-5231190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541819032	chr8:5231216-5231217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76241603	chr8:5231256-5231257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535172941	chr8:5231290-5231291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2056667	chr8:5231307-5231308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532540571	chr8:5231308-5231309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544395405	chr8:5231327-5231328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189573641	chr8:5231328-5231329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562677633	chr8:5231343-5231344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77230772	chr8:5231354-5231355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571076613	chr8:5231367-5231368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150970213	chr8:5231383-5231384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566799492	chr8:5231424-5231425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74629419	chr8:5231429-5231430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540812948	chr8:5231436-5231437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368571483	chr8:5231445-5231446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117316162	chr8:5231452-5231453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2056668	chr8:5231457-5231458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574185996	chr8:5231462-5231463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577126053	chr8:5231475-5231476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2056669	chr8:5231492-5231493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs563197428	chr8:5231495-5231496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115469868	chr8:5231522-5231523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569124633	chr8:5231545-5231546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181623608	chr8:5231559-5231560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554821802	chr8:5231567-5231568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528641213	chr8:5231579-5231580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79164826	chr8:5231586-5231587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558968804	chr8:5231604-5231605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573237344	chr8:5231635-5231636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540613632	chr8:5231673-5231674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186051128	chr8:5231687-5231688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572482237	chr8:5231692-5231693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189249290	chr8:5231698-5231699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544391975	chr8:5231706-5231707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181863071	chr8:5231754-5231755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186551123	chr8:5231790-5231791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368246477	chr8:5231795-5231796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541943780	chr8:5231806-5231807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190907363	chr8:5231876-5231877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542078738	chr8:5231883-5231884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75886300	chr8:5231893-5231894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	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
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
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	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
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5229400-5244400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:5235600-5236000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:5242600-5243600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:5244400-5244600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:5247600-5248600	Enhancers	Fetal Brain Male	brain
6	chr8:5247800-5248200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:5247800-5248400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:5248000-5248400	Enhancers	Fetal Brain Female	brain
9	chr8:5248000-5248400	Enhancers	Fetal Muscle Leg	muscle

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