Variant report

Variant	esv1832317
Chromosome Location	chr8:51029371-51038255
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: 324 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:324 , 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	rs1903311	chr8:51029371-51029372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554814729	chr8:51029372-51029373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573428294	chr8:51029383-51029384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117870240	chr8:51029465-51029466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551510807	chr8:51029530-51029531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569997042	chr8:51029537-51029538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565270062	chr8:51029555-51029556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117600679	chr8:51029573-51029574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543779583	chr8:51029596-51029597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182876853	chr8:51029602-51029603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs16914298	chr8:51029654-51029655	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529717846	chr8:51029714-51029715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537558149	chr8:51029771-51029772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566546290	chr8:51029773-51029774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527523448	chr8:51029788-51029789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs16914299	chr8:51029794-51029795	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs570730567	chr8:51029799-51029800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538153259	chr8:51029821-51029822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368474053	chr8:51029872-51029873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557351264	chr8:51029896-51029897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569278244	chr8:51029923-51029924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536342761	chr8:51029927-51029928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187513294	chr8:51029935-51029936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17760044	chr8:51029983-51029984	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371906680	chr8:51029994-51029995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116656914	chr8:51030005-51030006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558750287	chr8:51030099-51030100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569868573	chr8:51030103-51030104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187764446	chr8:51030121-51030122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147631733	chr8:51030161-51030162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544516377	chr8:51030162-51030163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192391504	chr8:51030177-51030178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142256774	chr8:51030230-51030231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541552468	chr8:51030251-51030252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568497066	chr8:51030252-51030253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527414544	chr8:51030284-51030285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535695658	chr8:51030288-51030289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552364461	chr8:51030296-51030297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs200331849	chr8:51030301-51030302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564280404	chr8:51030319-51030320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150200083	chr8:51030337-51030338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374887582	chr8:51030384-51030385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549180344	chr8:51030468-51030469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550146474	chr8:51030475-51030476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569148489	chr8:51030493-51030494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs16914302	chr8:51030517-51030518	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548370023	chr8:51030568-51030569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183928415	chr8:51030599-51030600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114044957	chr8:51030603-51030604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56194053	chr8:51030626-51030627	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:22 , 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	chr8:51029400-51030200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:51030200-51031000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:51031000-51031200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:51031000-51031600	Enhancers	Osteobl	bone
7	chr8:51031400-51034800	Weak transcription	Brain Germinal Matrix	brain
8	chr8:51031600-51038800	Weak transcription	Osteobl	bone
9	chr8:51032200-51046600	Weak transcription	Fetal Brain Male	brain
10	chr8:51034600-51035200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:51034600-51035200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:51034600-51038200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:51034800-51035200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:51034800-51037800	Enhancers	Brain Germinal Matrix	brain
15	chr8:51035000-51035600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:51037400-51039000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr8:51037800-51046800	Weak transcription	Brain Germinal Matrix	brain
18	chr8:51038000-51047600	Weak transcription	Right Atrium	heart
19	chr8:51038200-51038600	Enhancers	Spleen	Spleen
20	chr8:51038200-51038800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:51038200-51038800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:51038200-51040400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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