Variant report

Variant	esv1005621
Chromosome Location	chr8:52327474-52332853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:52331550..52333789-chr8:52342562..52344736,2	MCF-7	breast:

Extended variants
information (count: 173 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:173 , 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	rs180894500	chr8:52327593-52327594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113078378	chr8:52327619-52327620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565486698	chr8:52327628-52327629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185566847	chr8:52327636-52327637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140983839	chr8:52327641-52327642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144927839	chr8:52327668-52327669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530222572	chr8:52327671-52327672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548366690	chr8:52327683-52327684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566651908	chr8:52327779-52327780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527542632	chr8:52327812-52327813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138638270	chr8:52327814-52327815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190334360	chr8:52327900-52327901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116983456	chr8:52327901-52327902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182957994	chr8:52327994-52327995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187637074	chr8:52328117-52328118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539964466	chr8:52328120-52328121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556705669	chr8:52328121-52328122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149312771	chr8:52328184-52328185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539882643	chr8:52328238-52328239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191938628	chr8:52328258-52328259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560394405	chr8:52328289-52328290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184245094	chr8:52328290-52328291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79170454	chr8:52328297-52328298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532692022	chr8:52328322-52328323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188794269	chr8:52328349-52328350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181072727	chr8:52328397-52328398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535872105	chr8:52328470-52328471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375634998	chr8:52328476-52328477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562880433	chr8:52328477-52328478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530159506	chr8:52328478-52328479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542342068	chr8:52328515-52328516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560413532	chr8:52328521-52328522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76332729	chr8:52328552-52328553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552099771	chr8:52328596-52328597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192574011	chr8:52328609-52328610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112736485	chr8:52328625-52328626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531503784	chr8:52328725-52328726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143922216	chr8:52328730-52328731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567707399	chr8:52328733-52328734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147268272	chr8:52328783-52328784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61305961	chr8:52328790-52328791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139274098	chr8:52328813-52328814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534376536	chr8:52328873-52328874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558888937	chr8:52328893-52328894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577427852	chr8:52328983-52328984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72637831	chr8:52328988-52328989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372576191	chr8:52329067-52329068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13282560	chr8:52329095-52329096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183679538	chr8:52329110-52329111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143208215	chr8:52329113-52329114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52316800-52342200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr8:52321800-52335400	Weak transcription	Aorta	Aorta
3	chr8:52322200-52337400	Weak transcription	Left Ventricle	heart
4	chr8:52322200-52342800	Weak transcription	Right Ventricle	heart
5	chr8:52324000-52327600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:52327800-52328000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:52330000-52330400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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