Variant report

Variant	esv1813288
Chromosome Location	chr8:1339204-1356789
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 190 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547915875	chr8:1339204-1339205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371847055	chr8:1339208-1339209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567905156	chr8:1339215-1339216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76950982	chr8:1339248-1339249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117576631	chr8:1339260-1339261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117063098	chr8:1339263-1339264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139192933	chr8:1339289-1339290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78059256	chr8:1339317-1339318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558704784	chr8:1339320-1339321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71518177	chr8:1339354-1339355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386720616	chr8:1339360-1339361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374738710	chr8:1339361-1339362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78458797	chr8:1339365-1339366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17754787	chr8:1339407-1339408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563973107	chr8:1339408-1339409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532715894	chr8:1339417-1339418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546502387	chr8:1339433-1339434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188534528	chr8:1339463-1339464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554538412	chr8:1339472-1339473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11136387	chr8:1339489-1339490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs11136388	chr8:1339497-1339498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192556758	chr8:1339498-1339499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146416616	chr8:1339539-1339540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79299762	chr8:1339552-1339553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35089538	chr8:1339565-1339566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140741941	chr8:1339568-1339569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10866924	chr8:1339570-1339571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371029811	chr8:1339575-1339576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535018785	chr8:1339578-1339579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149736442	chr8:1339582-1339583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574999640	chr8:1339627-1339628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145648451	chr8:1339641-1339642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148865814	chr8:1339675-1339676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77817164	chr8:1339677-1339678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10866925	chr8:1339682-1339683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11136389	chr8:1339696-1339697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs528032264	chr8:1339697-1339698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78651539	chr8:1339720-1339721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11136390	chr8:1339731-1339732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs530544313	chr8:1339743-1339744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80052750	chr8:1339765-1339766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569564493	chr8:1339782-1339783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117742371	chr8:1339798-1339799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533197966	chr8:1339800-1339801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76039784	chr8:1339806-1339807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75021502	chr8:1339807-1339808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527830407	chr8:1339809-1339810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555024144	chr8:1339812-1339813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12677155	chr8:1339829-1339830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs184734896	chr8:1339844-1339845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1338000-1340400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1340400-1340600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:1340400-1340600	Enhancers	Stomach Smooth Muscle	stomach
4	chr8:1356000-1356800	ZNF genes & repeats	Esophagus	oesophagus
5	chr8:1356600-1357200	Enhancers	Brain Germinal Matrix	brain

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