Variant report

Variant	esv3370783
Chromosome Location	chr6:146160809-146162657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:146161591..146163305-chr6:146169579..146172257,2	MCF-7	breast:
2	chr6:146133961..146138994-chr6:146162007..146166567,6	K562	blood:
3	chr6:146160656..146162566-chr6:146164304..146167235,2	MCF-7	breast:
4	chr6:146162034..146165006-chr6:146165073..146167204,2	K562	blood:
5	chr6:146158963..146161449-chr6:146161903..146164839,3	K562	blood:
6	chr6:146158963..146161449-chr6:146161903..146164839,3	K562	blood:
7	chr6:146133832..146137079-chr6:146162007..146165593,4	K562	blood:

Variant related genes	Relation type
ENSG00000235652	chromatin interactions
ENSG00000118496	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537468426	chr6:146160831-146160832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574318622	chr6:146160937-146160938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369421191	chr6:146160977-146160978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557485875	chr6:146161039-146161040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570962822	chr6:146161080-146161081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539603681	chr6:146161081-146161082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553531558	chr6:146161169-146161170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573426985	chr6:146161202-146161203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142089574	chr6:146161222-146161223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372746738	chr6:146161228-146161229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542134776	chr6:146161345-146161346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555677996	chr6:146161369-146161370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7753833	chr6:146161432-146161433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7754233	chr6:146161473-146161474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577261133	chr6:146161478-146161479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563228461	chr6:146161497-146161498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532243756	chr6:146161513-146161514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574819047	chr6:146161535-146161536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184975311	chr6:146161641-146161642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6901339	chr6:146161657-146161658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111218773	chr6:146161680-146161681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528309467	chr6:146161684-146161685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531173771	chr6:146161686-146161687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548480810	chr6:146161719-146161720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201277363	chr6:146161731-146161732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58642273	chr6:146161732-146161733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs202019662	chr6:146161734-146161735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202167224	chr6:146161753-146161754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541956698	chr6:146161759-146161760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562008901	chr6:146161783-146161784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530915883	chr6:146161788-146161789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184042393	chr6:146161795-146161796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189017716	chr6:146161837-146161838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539941859	chr6:146161901-146161902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546847054	chr6:146161952-146161953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545707120	chr6:146161965-146161966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539218732	chr6:146161973-146161974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377710354	chr6:146161987-146161988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143245704	chr6:146162019-146162020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs547127265	chr6:146162101-146162102	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs368242722	chr6:146162187-146162188	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs371434842	chr6:146162208-146162209	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs9403749	chr6:146162239-146162240	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs193001593	chr6:146162283-146162284	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs76034612	chr6:146162311-146162312	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs1856244	chr6:146162458-146162459	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs183483556	chr6:146162506-146162507	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs148195988	chr6:146162518-146162519	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs72998052	chr6:146162536-146162537	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573070205	chr6:146162541-146162542	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146136800-146165200	Weak transcription	Lung	lung
2	chr6:146137400-146167200	Weak transcription	Primary B cells from cord blood	blood
3	chr6:146137800-146163000	Weak transcription	Fetal Stomach	stomach
4	chr6:146150600-146163000	Weak transcription	Left Ventricle	heart
5	chr6:146150600-146171200	Weak transcription	Aorta	Aorta
6	chr6:146150600-146174000	Weak transcription	Right Ventricle	heart
7	chr6:146157600-146163200	Weak transcription	Brain Germinal Matrix	brain
8	chr6:146157800-146162800	Weak transcription	Gastric	stomach
9	chr6:146158000-146163400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:146158200-146163600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:146158200-146163600	Weak transcription	HSMMtube	muscle
12	chr6:146158200-146163600	Weak transcription	Osteobl	bone
13	chr6:146158200-146164200	Weak transcription	Brain Anterior Caudate	brain
14	chr6:146158200-146166000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:146158400-146163600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:146159200-146162400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:146159600-146162800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:146159600-146171400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:146159800-146161600	Weak transcription	Psoas Muscle	Psoas
20	chr6:146159800-146163600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:146160000-146162400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:146160400-146165800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:146160400-146171400	Weak transcription	Primary T cells from cord blood	blood
24	chr6:146160600-146161000	Enhancers	Stomach Smooth Muscle	stomach
25	chr6:146160600-146163000	Weak transcription	Brain Substantia Nigra	brain
26	chr6:146160600-146163400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:146161000-146162400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr6:146162400-146164000	Enhancers	Stomach Smooth Muscle	stomach
29	chr6:146162400-146164400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr6:146162400-146165200	Enhancers	Rectal Smooth Muscle	rectum
31	chr6:146162400-146166600	Enhancers	Colon Smooth Muscle	Colon

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