Variant report

Variant	nsv558710
Chromosome Location	chr12:43020633-43022946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:43020347..43023127-chr12:43029388..43031746,2	K562	blood:
2	chr12:43018191..43020196-chr12:43021950..43023568,2	K562	blood:

Variant related genes	Relation type
ENSG00000257405	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7313926	chr12:43020633-43020634	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs139018072	chr12:43020666-43020667	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538026362	chr12:43020670-43020671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs79127723	chr12:43020705-43020706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113689305	chr12:43020709-43020710	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs536122370	chr12:43020732-43020733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143136972	chr12:43020789-43020790	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs17091505	chr12:43020797-43020798	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs202197719	chr12:43020805-43020806	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147475403	chr12:43020812-43020813	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12322671	chr12:43020819-43020820	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs373992491	chr12:43020825-43020826	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7302424	chr12:43020849-43020850	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs189167570	chr12:43020856-43020857	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192872508	chr12:43020857-43020858	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7131974	chr12:43020864-43020865	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs118070832	chr12:43020879-43020880	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs80034683	chr12:43020889-43020890	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs527632703	chr12:43020915-43020916	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560956630	chr12:43020924-43020925	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570576381	chr12:43020934-43020935	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531815984	chr12:43020958-43020959	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185451647	chr12:43020993-43020994	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375361202	chr12:43021009-43021010	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189560927	chr12:43021014-43021015	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs535707028	chr12:43021072-43021073	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs4768430	chr12:43021075-43021076	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs566401344	chr12:43021089-43021090	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539407658	chr12:43021093-43021094	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs4768431	chr12:43021117-43021118	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs17568121	chr12:43021158-43021159	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543502204	chr12:43021226-43021227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373818815	chr12:43021228-43021229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs149604764	chr12:43021244-43021245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370156328	chr12:43021301-43021302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374074788	chr12:43021306-43021307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs78744125	chr12:43021324-43021325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs144393593	chr12:43021349-43021350	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs559193424	chr12:43021415-43021416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533073524	chr12:43021422-43021423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs199652951	chr12:43021431-43021432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181106160	chr12:43021458-43021459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7306530	chr12:43021465-43021466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs148810400	chr12:43021466-43021467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550237946	chr12:43021549-43021550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7306683	chr12:43021575-43021576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs529440683	chr12:43021577-43021578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531702537	chr12:43021587-43021588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7303511	chr12:43021604-43021605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs376785206	chr12:43021627-43021628	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43017000-43020800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:43020800-43021000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:43020800-43021200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:43021000-43021800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:43021400-43022000	Enhancers	Fetal Stomach	stomach

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