Variant report

Variant	esv3506347
Chromosome Location	chr6:149197409-149200232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 175 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537179738	chr6:149197470-149197471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190254942	chr6:149197472-149197473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557073210	chr6:149197473-149197474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138831694	chr6:149197616-149197617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539456926	chr6:149197631-149197632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141949750	chr6:149197702-149197703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146286397	chr6:149197703-149197704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9373579	chr6:149197704-149197705	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs112412219	chr6:149197720-149197721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112490540	chr6:149197739-149197740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527368709	chr6:149197762-149197763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117866421	chr6:149197788-149197789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182094792	chr6:149197814-149197815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73778930	chr6:149197828-149197829	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187653298	chr6:149197893-149197894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13203102	chr6:149197926-149197927	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189666486	chr6:149197930-149197931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528418910	chr6:149197969-149197970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182297528	chr6:149198017-149198018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369074930	chr6:149198074-149198075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548452981	chr6:149198084-149198085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73778931	chr6:149198099-149198100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs536562012	chr6:149198110-149198111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375805247	chr6:149198142-149198143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550864178	chr6:149198143-149198144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550096802	chr6:149198147-149198148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377523868	chr6:149198150-149198151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530750904	chr6:149198164-149198165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550762359	chr6:149198169-149198170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570573240	chr6:149198172-149198173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112764755	chr6:149198193-149198194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539493213	chr6:149198198-149198199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185170797	chr6:149198211-149198212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546325997	chr6:149198329-149198330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566453168	chr6:149198333-149198334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149933426	chr6:149198385-149198386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144001714	chr6:149198388-149198389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148643078	chr6:149198398-149198399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535806140	chr6:149198413-149198414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142127627	chr6:149198441-149198442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373036802	chr6:149198460-149198461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377062719	chr6:149198499-149198500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189964310	chr6:149198530-149198531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183300931	chr6:149198537-149198538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188177307	chr6:149198549-149198550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147793211	chr6:149198556-149198557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556003102	chr6:149198573-149198574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575503689	chr6:149198576-149198577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538063801	chr6:149198577-149198578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113359495	chr6:149198587-149198588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149191000-149203800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:149191200-149207600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:149191800-149197600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:149191800-149200200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:149191800-149205600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:149192000-149200200	Weak transcription	Aorta	Aorta
7	chr6:149192600-149199200	Weak transcription	Spleen	Spleen
8	chr6:149192600-149205600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:149193000-149199600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr6:149193200-149218800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:149195000-149199800	Weak transcription	Fetal Thymus	thymus
12	chr6:149195200-149210200	Weak transcription	Right Ventricle	heart
13	chr6:149195600-149198200	Enhancers	Fetal Heart	heart
14	chr6:149195800-149205600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:149196000-149203800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:149196200-149198600	Weak transcription	Ovary	ovary
17	chr6:149196200-149199200	Weak transcription	Pancreas	Pancrea
18	chr6:149196200-149202400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:149196200-149202600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:149196200-149203200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:149196200-149204000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:149196200-149208600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:149196400-149197600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:149196400-149199800	Weak transcription	Fetal Brain Male	brain
25	chr6:149196400-149200200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:149196400-149200800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:149196400-149205800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:149196400-149206000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:149196400-149209800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:149196600-149197800	Weak transcription	NHEK	skin
31	chr6:149197000-149197600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr6:149197000-149198000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:149197200-149197800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:149197200-149197800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:149197200-149198000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr6:149197400-149197800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr6:149197400-149205600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:149197600-149197800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:149197600-149198000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr6:149197600-149203800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr6:149197800-149198000	Enhancers	H9 Cell Line	embryonic stem cell
42	chr6:149197800-149198000	Enhancers	NHEK	skin
43	chr6:149197800-149204000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:149197800-149205800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr6:149198000-149203800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr6:149198000-149204000	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr6:149198000-149205600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:149198200-149199400	Weak transcription	Fetal Heart	heart
49	chr6:149198600-149198800	Enhancers	Ovary	ovary
50	chr6:149198800-149199600	Weak transcription	Ovary	ovary

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