Variant report

Variant	esv3419919
Chromosome Location	chr2:46682748-46684046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46683036..46684677-chr2:46693619..46695195,2	K562	blood:
2	chr2:46681213..46683029-chr2:46797843..46800653,2	K562	blood:
3	chr2:46661594..46664052-chr2:46682018..46683894,2	K562	blood:
4	chr2:46672183..46675171-chr2:46680473..46682998,2	MCF-7	breast:
5	chr2:46681172..46682947-chr2:46683592..46685132,2	MCF-7	breast:
6	chr2:46681172..46682947-chr2:46683592..46685132,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187600	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75339704	chr2:46682752-46682753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538184445	chr2:46682768-46682769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs61226094	chr2:46682769-46682770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs142794416	chr2:46682811-46682812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534130281	chr2:46682863-46682864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553908253	chr2:46682946-46682947	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576965834	chr2:46682986-46682987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs539543390	chr2:46682987-46682988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs188394628	chr2:46682995-46682996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112626953	chr2:46683024-46683025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs191777659	chr2:46683052-46683053	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541826045	chr2:46683069-46683070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562038352	chr2:46683080-46683081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs57000384	chr2:46683093-46683094	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs200266775	chr2:46683094-46683095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs398060155	chr2:46683105-46683106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs572321043	chr2:46683186-46683187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7565188	chr2:46683202-46683203	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374971208	chr2:46683230-46683231	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111733174	chr2:46683260-46683261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs61084758	chr2:46683262-46683263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11693225	chr2:46683264-46683265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs10670997	chr2:46683291-46683292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs147391156	chr2:46683309-46683310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533106468	chr2:46683313-46683314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371484991	chr2:46683314-46683315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549826048	chr2:46683374-46683375	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs72873755	chr2:46683399-46683400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs56352638	chr2:46683430-46683431	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548656089	chr2:46683439-46683440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568424191	chr2:46683482-46683483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149460277	chr2:46683491-46683492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs68030749	chr2:46683528-46683529	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10670998	chr2:46683554-46683555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs397869837	chr2:46683562-46683563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77286783	chr2:46683578-46683579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368676267	chr2:46683607-46683608	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs539584946	chr2:46683624-46683625	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372786173	chr2:46683625-46683626	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369404780	chr2:46683645-46683646	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529206113	chr2:46683668-46683669	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs7565770	chr2:46683683-46683684	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs576433373	chr2:46683723-46683724	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535843687	chr2:46683741-46683742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs73929729	chr2:46683747-46683748	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs182316499	chr2:46683750-46683751	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541326430	chr2:46683769-46683770	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs55768552	chr2:46683841-46683842	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs373090620	chr2:46683863-46683864	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577896388	chr2:46683929-46683930	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46667000-46688400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:46668200-46683600	Weak transcription	K562	blood
3	chr2:46674600-46686600	Weak transcription	NHLF	lung
4	chr2:46679000-46683800	Weak transcription	Placenta	Placenta
5	chr2:46679000-46687400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:46679400-46685200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:46679600-46686400	Weak transcription	Right Atrium	heart
8	chr2:46680600-46687200	Weak transcription	Stomach Mucosa	stomach
9	chr2:46681400-46684800	Weak transcription	HepG2	liver
10	chr2:46682400-46682800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:46682800-46686400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:46683600-46684000	Strong transcription	K562	blood
13	chr2:46683800-46684000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:46683800-46684000	Enhancers	Placenta	Placenta
15	chr2:46684000-46684200	Genic enhancers	Placenta	Placenta
16	chr2:46684000-46684200	ZNF genes & repeats	Pancreas	Pancrea
17	chr2:46684000-46688000	Weak transcription	K562	blood

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