Variant report

Variant	esv3404405
Chromosome Location	chr8:107900576-107901624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548707205	chr8:107900618-107900619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538487861	chr8:107900619-107900620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183757319	chr8:107900623-107900624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200598707	chr8:107900638-107900639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568640813	chr8:107900652-107900653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535928483	chr8:107900671-107900672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554283894	chr8:107900683-107900684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140609080	chr8:107900698-107900699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371657676	chr8:107900737-107900738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144556560	chr8:107900777-107900778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553588876	chr8:107900789-107900790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578247381	chr8:107900798-107900799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545662528	chr8:107900801-107900802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557564937	chr8:107900807-107900808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572721622	chr8:107900826-107900827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575840201	chr8:107900833-107900834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543071138	chr8:107900837-107900838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561132438	chr8:107900839-107900840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201933282	chr8:107900840-107900841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147819443	chr8:107900841-107900842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528786547	chr8:107900868-107900869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190583853	chr8:107900917-107900918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376150248	chr8:107900925-107900926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60933277	chr8:107900929-107900930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200569421	chr8:107900955-107900956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145168010	chr8:107900957-107900958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61367355	chr8:107900960-107900961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34011374	chr8:107900965-107900966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77894073	chr8:107900966-107900967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186904548	chr8:107901038-107901039	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191929768	chr8:107901070-107901071	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550396816	chr8:107901111-107901112	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577447961	chr8:107901130-107901131	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568677419	chr8:107901139-107901140	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114342241	chr8:107901168-107901169	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149896648	chr8:107901220-107901221	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs181435700	chr8:107901296-107901297	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs144955467	chr8:107901305-107901306	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs73699609	chr8:107901326-107901327	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs62518286	chr8:107901455-107901456	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs61449471	chr8:107901488-107901489	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs116272375	chr8:107901489-107901490	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs143028831	chr8:107901543-107901544	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs58019451	chr8:107901561-107901562	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555089053	chr8:107901576-107901577	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs573256111	chr8:107901610-107901611	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs530872298	chr8:107901616-107901617	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107884000-107904600	Weak transcription	Psoas Muscle	Psoas
2	chr8:107892000-107900600	Weak transcription	NHDF-Ad	bronchial
3	chr8:107894200-107902600	Weak transcription	HSMM	muscle
4	chr8:107899400-107901000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:107900400-107905000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:107900600-107900800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:107900600-107900800	Enhancers	NHDF-Ad	bronchial
8	chr8:107900800-107901400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:107900800-107901600	Weak transcription	NHDF-Ad	bronchial
10	chr8:107901000-107901200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:107901000-107901200	Enhancers	NH-A	brain
12	chr8:107901000-107901400	Enhancers	Osteobl	bone
13	chr8:107901000-107901600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:107901000-107902000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:107901000-107904600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:107901200-107901400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:107901200-107901600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:107901200-107901600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:107901200-107901800	Active TSS	Aorta	Aorta
20	chr8:107901200-107902000	Flanking Active TSS	NH-A	brain
21	chr8:107901400-107901600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:107901400-107901800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:107901400-107901800	Flanking Active TSS	Osteobl	bone
24	chr8:107901400-107903800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:107901600-107901800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:107901600-107901800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:107901600-107902000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:107901600-107902000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:107901600-107902000	Enhancers	HUVEC	blood vessel
30	chr8:107901600-107902800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:107901600-107903000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:107901600-107903000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:107901600-107903400	Enhancers	NHEK	skin
34	chr8:107901600-107904200	Enhancers	NHDF-Ad	bronchial

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