Variant report

Variant	esv2761458
Chromosome Location	chr8:107947610-107958891
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107948303..107950286-chr8:107953514..107955561,2	K562	blood:
2	chr8:107948303..107950286-chr8:107953514..107955561,2	K562	blood:
3	chr8:107942969..107944882-chr8:107947397..107950268,2	MCF-7	breast:

Extended variants
information (count: 419 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193053801	chr8:107947627-107947628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548917752	chr8:107947641-107947642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576803632	chr8:107947652-107947653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561245574	chr8:107947676-107947677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369125461	chr8:107947681-107947682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528415053	chr8:107947696-107947697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546871061	chr8:107947699-107947700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184781742	chr8:107947711-107947712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571381572	chr8:107947749-107947750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188508841	chr8:107947763-107947764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550711471	chr8:107947779-107947780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543986836	chr8:107947801-107947802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373283198	chr8:107947831-107947832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72686509	chr8:107947848-107947849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536258327	chr8:107947886-107947887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143581463	chr8:107947927-107947928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73300009	chr8:107947946-107947947	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545778280	chr8:107948014-107948015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57129058	chr8:107948022-107948023	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs922299	chr8:107948031-107948032	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545168802	chr8:107948070-107948071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs981295	chr8:107948084-107948085	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs575293048	chr8:107948098-107948099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542702766	chr8:107948112-107948113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148061074	chr8:107948146-107948147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372279745	chr8:107948178-107948179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181007490	chr8:107948183-107948184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141812353	chr8:107948198-107948199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565154040	chr8:107948273-107948274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370638953	chr8:107948294-107948295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144761224	chr8:107948357-107948358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376255451	chr8:107948391-107948392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138700969	chr8:107948431-107948432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548242798	chr8:107948438-107948439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527282016	chr8:107948442-107948443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150865084	chr8:107948446-107948447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183764170	chr8:107948457-107948458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566376467	chr8:107948474-107948475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533745939	chr8:107948482-107948483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4092515	chr8:107948483-107948484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs189568167	chr8:107948511-107948512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538856404	chr8:107948513-107948514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551187560	chr8:107948545-107948546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55827610	chr8:107948566-107948567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs575430675	chr8:107948602-107948603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200407064	chr8:107948611-107948612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542741635	chr8:107948621-107948622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370573893	chr8:107948623-107948624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573172452	chr8:107948629-107948630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547281907	chr8:107948665-107948666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107938200-107951400	Weak transcription	NHLF	lung
2	chr8:107947200-107947800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr8:107947400-107947800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr8:107947400-107948200	Enhancers	HUVEC	blood vessel
5	chr8:107947400-107952000	Weak transcription	Aorta	Aorta
6	chr8:107947600-107947800	Enhancers	NHDF-Ad	bronchial
7	chr8:107947600-107948000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:107947600-107948000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:107947800-107948000	Enhancers	A549	lung
10	chr8:107947800-107951200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:107947800-107951200	Weak transcription	NHDF-Ad	bronchial
12	chr8:107948000-107951400	Weak transcription	A549	lung
13	chr8:107948200-107948600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:107951200-107951800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:107951200-107952200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:107951200-107952200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:107951200-107952200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:107951200-107952200	Enhancers	NHDF-Ad	bronchial
19	chr8:107951200-107952400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:107951200-107952400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:107951200-107952400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:107951200-107952400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:107951200-107952400	Enhancers	HMEC	breast
24	chr8:107951200-107952400	Enhancers	NHEK	skin
25	chr8:107951200-107952400	Enhancers	Osteobl	bone
26	chr8:107951200-107952600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:107951200-107952800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:107951400-107951800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:107951400-107952200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:107951400-107952200	Enhancers	NHLF	lung
31	chr8:107951400-107952400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:107951400-107952400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:107951400-107952400	Enhancers	A549	lung
34	chr8:107951400-107952400	Enhancers	HSMM	muscle
35	chr8:107951400-107952400	Enhancers	NH-A	brain
36	chr8:107952000-107952400	Enhancers	Aorta	Aorta
37	chr8:107952400-107953400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:107952400-107953400	Weak transcription	NHEK	skin
39	chr8:107952400-107955200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:107952400-107955800	Weak transcription	Osteobl	bone
41	chr8:107952400-107957400	Weak transcription	Aorta	Aorta
42	chr8:107952600-107958800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:107952800-107953200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:107953200-107954400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr8:107953400-107953600	Enhancers	NHEK	skin
46	chr8:107953400-107954000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:107954000-107959000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:107954400-107959200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:107955200-107956400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:107955800-107956400	Enhancers	Osteobl	bone

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