Variant report

Variant	esv1796188
Chromosome Location	chr8:107900966-107928113
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107927132..107929876-chr8:107934967..107937807,3	MCF-7	breast:
2	chr8:107904885..107907479-chr8:107914469..107916936,2	K562	blood:
3	chr8:107904885..107907479-chr8:107914469..107916936,2	K562	blood:

Extended variants
information (count: 1047 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1047 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77894073	chr8:107900966-107900967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186904548	chr8:107901038-107901039	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191929768	chr8:107901070-107901071	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550396816	chr8:107901111-107901112	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577447961	chr8:107901130-107901131	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568677419	chr8:107901139-107901140	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114342241	chr8:107901168-107901169	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149896648	chr8:107901220-107901221	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs181435700	chr8:107901296-107901297	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs144955467	chr8:107901305-107901306	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs73699609	chr8:107901326-107901327	Active TSS Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs62518286	chr8:107901455-107901456	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs61449471	chr8:107901488-107901489	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs116272375	chr8:107901489-107901490	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs143028831	chr8:107901543-107901544	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs58019451	chr8:107901561-107901562	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs555089053	chr8:107901576-107901577	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs573256111	chr8:107901610-107901611	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs530872298	chr8:107901616-107901617	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35880768	chr8:107901680-107901681	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs117359051	chr8:107901719-107901720	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564922413	chr8:107901722-107901723	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs72684557	chr8:107901729-107901730	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs544074011	chr8:107901741-107901742	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs146678869	chr8:107901782-107901783	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs185477222	chr8:107901784-107901785	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs548070138	chr8:107901786-107901787	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs189942036	chr8:107901791-107901792	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182334713	chr8:107901794-107901795	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs140709503	chr8:107901800-107901801	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112281133	chr8:107901821-107901822	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs539359097	chr8:107901910-107901911	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs551257286	chr8:107901942-107901943	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs569564949	chr8:107901978-107901979	Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs546492700	chr8:107902005-107902006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187853389	chr8:107902026-107902027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573322215	chr8:107902052-107902053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71522793	chr8:107902095-107902096	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs138393721	chr8:107902103-107902104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576779589	chr8:107902116-107902117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544109606	chr8:107902144-107902145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141953405	chr8:107902173-107902174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567997002	chr8:107902188-107902189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574639585	chr8:107902277-107902278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568114254	chr8:107902334-107902335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150209333	chr8:107902387-107902388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75248874	chr8:107902419-107902420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138809945	chr8:107902504-107902505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149390258	chr8:107902507-107902508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192072427	chr8:107902538-107902539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107884000-107904600	Weak transcription	Psoas Muscle	Psoas
2	chr8:107894200-107902600	Weak transcription	HSMM	muscle
3	chr8:107899400-107901000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:107900400-107905000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:107900800-107901400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:107900800-107901600	Weak transcription	NHDF-Ad	bronchial
7	chr8:107901000-107901200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:107901000-107901200	Enhancers	NH-A	brain
9	chr8:107901000-107901400	Enhancers	Osteobl	bone
10	chr8:107901000-107901600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:107901000-107902000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:107901000-107904600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:107901200-107901400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:107901200-107901600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:107901200-107901600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:107901200-107901800	Active TSS	Aorta	Aorta
17	chr8:107901200-107902000	Flanking Active TSS	NH-A	brain
18	chr8:107901400-107901600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:107901400-107901800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:107901400-107901800	Flanking Active TSS	Osteobl	bone
21	chr8:107901400-107903800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:107901600-107901800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:107901600-107901800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr8:107901600-107902000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:107901600-107902000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:107901600-107902000	Enhancers	HUVEC	blood vessel
27	chr8:107901600-107902800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:107901600-107903000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:107901600-107903000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:107901600-107903400	Enhancers	NHEK	skin
31	chr8:107901600-107904200	Enhancers	NHDF-Ad	bronchial
32	chr8:107901800-107902000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:107901800-107902600	Weak transcription	Aorta	Aorta
34	chr8:107901800-107903000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:107901800-107904000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:107901800-107904200	Enhancers	Osteobl	bone
37	chr8:107902000-107902400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:107902000-107902800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:107902000-107904200	Enhancers	NH-A	brain
40	chr8:107902000-107904600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:107902400-107903400	Enhancers	HMEC	breast
42	chr8:107902400-107903400	Enhancers	NHLF	lung
43	chr8:107902600-107903000	Enhancers	Aorta	Aorta
44	chr8:107902600-107903000	Enhancers	HSMM	muscle
45	chr8:107902600-107903000	Enhancers	HSMMtube	muscle
46	chr8:107902600-107903400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr8:107902600-107903400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:107902800-107903200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:107903000-107904000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:107903000-107904000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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