Variant report

Variant	esv1802539
Chromosome Location	chr8:107540021-107567329
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107561724..107563594-chr8:107566625..107568309,2	K562	blood:
2	chr8:107561724..107563594-chr8:107566625..107568309,2	K562	blood:
3	chr8:107543545..107547421-chr8:107549613..107551996,3	K562	blood:
4	chr8:107535499..107537915-chr8:107541747..107543491,2	K562	blood:
5	chr19:10155178..10155811-chr8:107558295..107559183,2	MCF-7	breast:
6	chr8:107543545..107547421-chr8:107549613..107551996,3	K562	blood:

Extended variants
information (count: 948 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:948 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10094235	chr8:107540021-107540022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563142982	chr8:107540119-107540120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530125059	chr8:107540120-107540121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148653278	chr8:107540215-107540216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541928833	chr8:107540231-107540232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs80335806	chr8:107540262-107540263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74965051	chr8:107540268-107540269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539327566	chr8:107540323-107540324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367953046	chr8:107540326-107540327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552884197	chr8:107540332-107540333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572076097	chr8:107540339-107540340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116385660	chr8:107540372-107540373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377083984	chr8:107540423-107540424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531663169	chr8:107540469-107540470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549708946	chr8:107540482-107540483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534732327	chr8:107540570-107540571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568304594	chr8:107540588-107540589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535503346	chr8:107540601-107540602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555003186	chr8:107540618-107540619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553907722	chr8:107540652-107540653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs36104673	chr8:107540709-107540710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192812226	chr8:107540721-107540722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77454879	chr8:107540722-107540723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80136197	chr8:107540798-107540799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182532674	chr8:107540818-107540819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563724911	chr8:107540856-107540857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142227681	chr8:107540906-107540907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556297572	chr8:107540944-107540945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151213967	chr8:107540980-107540981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541890010	chr8:107540995-107540996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560227015	chr8:107541005-107541006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7812735	chr8:107541027-107541028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545857806	chr8:107541060-107541061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564554130	chr8:107541080-107541081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75829115	chr8:107541082-107541083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374329541	chr8:107541092-107541093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367791725	chr8:107541169-107541170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78930684	chr8:107541288-107541289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569895516	chr8:107541293-107541294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529123634	chr8:107541296-107541297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189186436	chr8:107541329-107541330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537230151	chr8:107541347-107541348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547481819	chr8:107541376-107541377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139481871	chr8:107541426-107541427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73311205	chr8:107541461-107541462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs557458049	chr8:107541489-107541490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556736274	chr8:107541490-107541491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192400101	chr8:107541508-107541509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368461507	chr8:107541524-107541525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184588307	chr8:107541546-107541547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Thoracic aortic aneurysm	21092924	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
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107512400-107620200	Weak transcription	Aorta	Aorta
2	chr8:107526800-107551000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:107526800-107568400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:107530400-107572800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:107537400-107551200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:107540200-107541200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:107540600-107541000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:107540600-107541000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:107548600-107548800	Enhancers	Osteobl	bone
10	chr8:107548600-107549400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr8:107548600-107549600	Enhancers	NH-A	brain
12	chr8:107548800-107551200	Weak transcription	Osteobl	bone
13	chr8:107549600-107551200	Weak transcription	NH-A	brain
14	chr8:107551000-107552200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:107551000-107552200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:107551200-107552000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:107551200-107552400	Enhancers	Osteobl	bone
18	chr8:107551200-107552600	Enhancers	NH-A	brain
19	chr8:107551200-107552600	Enhancers	NHLF	lung
20	chr8:107551400-107552000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:107551400-107552600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:107551400-107552600	Enhancers	NHDF-Ad	bronchial
23	chr8:107551800-107552200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:107551800-107552200	Enhancers	NHEK	skin
25	chr8:107551800-107552600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:107552000-107553800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:107552200-107552600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr8:107552200-107553600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:107552200-107553800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:107552400-107553800	Weak transcription	Osteobl	bone
31	chr8:107552600-107553800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:107552600-107553800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:107552600-107561800	Weak transcription	NHLF	lung
34	chr8:107552600-107562200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:107552600-107562200	Weak transcription	NHDF-Ad	bronchial
36	chr8:107552600-107570600	Weak transcription	NH-A	brain
37	chr8:107552800-107553000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:107553000-107553600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:107553200-107554000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr8:107553600-107554400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr8:107553600-107554400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:107553800-107554000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:107553800-107554000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr8:107553800-107554200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:107553800-107554400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:107553800-107554400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:107553800-107554400	Enhancers	Osteobl	bone
48	chr8:107554000-107554200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:107554200-107559800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:107554200-107564600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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