Variant report

Variant	esv33715
Chromosome Location	chr2:46709764-46712792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46710349..46713099-chr2:46769270..46771905,2	MCF-7	breast:
2	chr2:46709342..46712080-chr2:46908104..46909816,2	K562	blood:
3	chr2:46707494..46710484-chr2:46718946..46721502,2	K562	blood:
4	chr2:46712457..46718126-chr2:46724421..46727428,6	K562	blood:
5	chr2:46710065..46711846-chr2:46725513..46727572,2	MCF-7	breast:
6	chr2:46693283..46695227-chr2:46712341..46714395,2	K562	blood:

Variant related genes	Relation type
ENSG00000119729	chromatin interactions
ENSG00000250565	chromatin interactions
ENSG00000253515	chromatin interactions

Extended variants
information (count: 150 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201552240	chr2:46709836-46709837	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs189246532	chr2:46709870-46709871	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs552601967	chr2:46709872-46709873	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs562811208	chr2:46709873-46709874	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs562937397	chr2:46709877-46709878	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs530459500	chr2:46709884-46709885	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs138609118	chr2:46709931-46709932	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs193009487	chr2:46710014-46710015	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs533711028	chr2:46710051-46710052	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs374574363	chr2:46710065-46710066	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148871064	chr2:46710116-46710117	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570453362	chr2:46710131-46710132	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143523240	chr2:46710164-46710165	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs115195454	chr2:46710165-46710166	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs17035166	chr2:46710168-46710169	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538171118	chr2:46710172-46710173	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs17035171	chr2:46710188-46710189	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs60496170	chr2:46710202-46710203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs114782665	chr2:46710208-46710209	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375821513	chr2:46710210-46710211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs58267234	chr2:46710234-46710235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs111266519	chr2:46710270-46710271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374330512	chr2:46710291-46710292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546278363	chr2:46710296-46710297	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562872150	chr2:46710303-46710304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs77182748	chr2:46710313-46710314	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs117553858	chr2:46710344-46710345	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs561816074	chr2:46710360-46710361	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs185332582	chr2:46710394-46710395	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs7562332	chr2:46710405-46710406	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs570587701	chr2:46710411-46710412	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs532869143	chr2:46710415-46710416	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs555478170	chr2:46710417-46710418	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs76224375	chr2:46710432-46710433	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs555140423	chr2:46710451-46710452	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs7588586	chr2:46710455-46710456	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs537475879	chr2:46710487-46710488	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs189865237	chr2:46710512-46710513	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs79542054	chr2:46710530-46710531	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs199906777	chr2:46710534-46710535	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs13017856	chr2:46710535-46710536	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs13018019	chr2:46710540-46710541	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs556658864	chr2:46710551-46710552	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs13018477	chr2:46710568-46710569	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs17035175	chr2:46710576-46710577	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs191780876	chr2:46710578-46710579	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs527604157	chr2:46710585-46710586	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs184102576	chr2:46710586-46710587	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs115093103	chr2:46710635-46710636	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs532929418	chr2:46710645-46710646	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46689200-46714800	Weak transcription	Right Atrium	heart
2	chr2:46700200-46714800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:46705000-46716600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:46707400-46710000	Enhancers	Hela-S3	cervix
5	chr2:46708000-46710000	Enhancers	NHLF	lung
6	chr2:46708400-46714800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:46708400-46714800	Weak transcription	Lung	lung
8	chr2:46708600-46710400	Enhancers	GM12878-XiMat	blood
9	chr2:46709000-46713000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:46709200-46714600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:46709200-46714800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:46709400-46714600	Weak transcription	NHDF-Ad	bronchial
13	chr2:46709600-46709800	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:46709600-46710000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:46709600-46710200	Bivalent Enhancer	HepG2	liver
16	chr2:46709600-46714600	Weak transcription	HUVEC	blood vessel
17	chr2:46709600-46714600	Weak transcription	Osteobl	bone
18	chr2:46709600-46715000	Weak transcription	A549	lung
19	chr2:46710000-46713600	Weak transcription	Hela-S3	cervix
20	chr2:46710000-46714600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:46710000-46714600	Weak transcription	NHLF	lung
22	chr2:46710400-46710800	Enhancers	Left Ventricle	heart
23	chr2:46710600-46710800	Enhancers	Right Ventricle	heart
24	chr2:46710800-46712200	Weak transcription	Left Ventricle	heart
25	chr2:46710800-46714800	Weak transcription	Right Ventricle	heart
26	chr2:46711800-46713200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr2:46712000-46712400	Enhancers	Psoas Muscle	Psoas
28	chr2:46712000-46714000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:46712200-46712600	Enhancers	Left Ventricle	heart
30	chr2:46712400-46712800	Weak transcription	Psoas Muscle	Psoas
31	chr2:46712600-46714600	Weak transcription	Left Ventricle	heart

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