Variant report

Variant	esv3481039
Chromosome Location	chr8:51034799-51039997
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	chr8:51030711..51032424-chr8:51036929..51039858,2	MCF-7	breast:

Extended variants
information (count: 186 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs571090602	chr8:51034813-51034814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538471834	chr8:51034871-51034872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556759766	chr8:51034899-51034900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77589488	chr8:51034903-51034904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10110244	chr8:51034905-51034906	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531222734	chr8:51034916-51034917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555427337	chr8:51034967-51034968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185394910	chr8:51035030-51035031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs80075475	chr8:51035032-51035033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190371293	chr8:51035112-51035113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575450214	chr8:51035114-51035115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545593015	chr8:51035180-51035181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563924919	chr8:51035186-51035187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182009638	chr8:51035216-51035217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10100178	chr8:51035277-51035278	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35894592	chr8:51035279-51035280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183488143	chr8:51035293-51035294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188171536	chr8:51035311-51035312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17842001	chr8:51035329-51035330	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570981956	chr8:51035375-51035376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532092538	chr8:51035396-51035397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181097351	chr8:51035428-51035429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368751909	chr8:51035446-51035447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185540289	chr8:51035476-51035477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111290921	chr8:51035562-51035563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536153628	chr8:51035566-51035567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530239345	chr8:51035594-51035595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539576060	chr8:51035734-51035735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368869787	chr8:51035838-51035839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191568813	chr8:51035842-51035843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372123451	chr8:51035855-51035856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547039719	chr8:51035859-51035860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565749012	chr8:51035877-51035878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553428236	chr8:51035925-51035926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578121505	chr8:51035972-51035973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181658156	chr8:51035988-51035989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557229041	chr8:51035992-51035993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372209724	chr8:51036059-51036060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375905710	chr8:51036065-51036066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144310762	chr8:51036086-51036087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375587046	chr8:51036087-51036088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557809195	chr8:51036148-51036149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575833193	chr8:51036241-51036242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80268384	chr8:51036258-51036259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561651794	chr8:51036275-51036276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368560582	chr8:51036276-51036277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187169329	chr8:51036277-51036278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564549018	chr8:51036295-51036296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191813579	chr8:51036320-51036321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532030739	chr8:51036386-51036387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51018400-51039600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:51031400-51034800	Weak transcription	Brain Germinal Matrix	brain
3	chr8:51031600-51038800	Weak transcription	Osteobl	bone
4	chr8:51032200-51046600	Weak transcription	Fetal Brain Male	brain
5	chr8:51034600-51035200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:51034600-51035200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:51034600-51038200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:51034800-51035200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:51034800-51037800	Enhancers	Brain Germinal Matrix	brain
10	chr8:51035000-51035600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:51037400-51039000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:51037800-51046800	Weak transcription	Brain Germinal Matrix	brain
13	chr8:51038000-51047600	Weak transcription	Right Atrium	heart
14	chr8:51038200-51038600	Enhancers	Spleen	Spleen
15	chr8:51038200-51038800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:51038200-51038800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:51038200-51040400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:51038400-51038600	Enhancers	Fetal Intestine Large	intestine
19	chr8:51038400-51039000	Enhancers	NH-A	brain
20	chr8:51038600-51039400	Weak transcription	Fetal Intestine Large	intestine
21	chr8:51038800-51040000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:51038800-51040400	Enhancers	Osteobl	bone
23	chr8:51039000-51039400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:51039000-51039800	Weak transcription	NH-A	brain
25	chr8:51039200-51040000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:51039400-51039800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr8:51039400-51040200	Enhancers	Fetal Intestine Large	intestine
28	chr8:51039400-51040600	Enhancers	Hela-S3	cervix
29	chr8:51039400-51040800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr8:51039600-51040200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:51039600-51040600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:51039600-51040600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:51039600-51040600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:51039800-51040600	Enhancers	Adipose Nuclei	Adipose
35	chr8:51039800-51040600	Enhancers	NH-A	brain
36	chr8:51039800-51040800	Enhancers	Rectal Smooth Muscle	rectum

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