Variant report

Variant	esv3488680
Chromosome Location	chr8:51030349-51039347
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:
2	chr8:51030711..51032424-chr8:51036929..51039858,2	MCF-7	breast:

Extended variants
information (count: 316 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:316 , 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	rs374887582	chr8:51030384-51030385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549180344	chr8:51030468-51030469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550146474	chr8:51030475-51030476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569148489	chr8:51030493-51030494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16914302	chr8:51030517-51030518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs548370023	chr8:51030568-51030569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183928415	chr8:51030599-51030600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114044957	chr8:51030603-51030604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56194053	chr8:51030626-51030627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55870603	chr8:51030628-51030629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145707462	chr8:51030671-51030672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577025463	chr8:51030680-51030681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535373726	chr8:51030754-51030755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148965557	chr8:51030784-51030785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556482918	chr8:51030839-51030840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188602687	chr8:51030864-51030865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541297971	chr8:51030865-51030866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111802732	chr8:51030869-51030870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13270234	chr8:51030877-51030878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559907153	chr8:51030886-51030887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143687957	chr8:51030887-51030888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376885448	chr8:51030921-51030922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564267922	chr8:51030951-51030952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577187541	chr8:51030970-51030971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138434475	chr8:51030974-51030975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142920286	chr8:51030995-51030996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367948599	chr8:51031011-51031012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201666631	chr8:51031089-51031090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7825290	chr8:51031092-51031093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73573556	chr8:51031111-51031112	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537081595	chr8:51031154-51031155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72639893	chr8:51031187-51031188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562999051	chr8:51031203-51031204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17687439	chr8:51031221-51031222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191901949	chr8:51031243-51031244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184370621	chr8:51031270-51031271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574017912	chr8:51031353-51031354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369819170	chr8:51031388-51031389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559873386	chr8:51031410-51031411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77489442	chr8:51031438-51031439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538086355	chr8:51031440-51031441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145100425	chr8:51031477-51031478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371769414	chr8:51031487-51031488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189077609	chr8:51031541-51031542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528802453	chr8:51031542-51031543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552016412	chr8:51031549-51031550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553680039	chr8:51031560-51031561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571989566	chr8:51031566-51031567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139030201	chr8:51031576-51031577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565145350	chr8:51031618-51031619	Weak transcription	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:29 , 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	chr8:51028600-51030600	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr8:51030200-51031000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:51031000-51031200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:51031000-51031600	Enhancers	Osteobl	bone
6	chr8:51031400-51034800	Weak transcription	Brain Germinal Matrix	brain
7	chr8:51031600-51038800	Weak transcription	Osteobl	bone
8	chr8:51032200-51046600	Weak transcription	Fetal Brain Male	brain
9	chr8:51034600-51035200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:51034600-51035200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:51034600-51038200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:51034800-51035200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:51034800-51037800	Enhancers	Brain Germinal Matrix	brain
14	chr8:51035000-51035600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:51037400-51039000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:51037800-51046800	Weak transcription	Brain Germinal Matrix	brain
17	chr8:51038000-51047600	Weak transcription	Right Atrium	heart
18	chr8:51038200-51038600	Enhancers	Spleen	Spleen
19	chr8:51038200-51038800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:51038200-51038800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:51038200-51040400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:51038400-51038600	Enhancers	Fetal Intestine Large	intestine
23	chr8:51038400-51039000	Enhancers	NH-A	brain
24	chr8:51038600-51039400	Weak transcription	Fetal Intestine Large	intestine
25	chr8:51038800-51040000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:51038800-51040400	Enhancers	Osteobl	bone
27	chr8:51039000-51039400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr8:51039000-51039800	Weak transcription	NH-A	brain
29	chr8:51039200-51040000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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