Variant report

Variant	esv2421679
Chromosome Location	chr12:47527599-47528845
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	chr12:47526800..47528961-chr12:47531197..47533695,3	K562	blood:

Variant related genes	Relation type
ENSG00000258352	chromatin interactions

Extended variants
information (count: 48 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10881048	chr12:47527599-47527600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76711282	chr12:47527623-47527624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114742454	chr12:47527630-47527631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184022079	chr12:47527723-47527724	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10785659	chr12:47527782-47527783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1525444	chr12:47527808-47527809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs535316841	chr12:47527835-47527836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558533569	chr12:47527867-47527868	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs578250288	chr12:47527894-47527895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11829304	chr12:47527945-47527946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs61681413	chr12:47528054-47528055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs57941365	chr12:47528055-47528056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541597524	chr12:47528062-47528063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561716423	chr12:47528122-47528123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571995338	chr12:47528171-47528172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540628926	chr12:47528172-47528173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs142195009	chr12:47528193-47528194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569486502	chr12:47528204-47528205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533073680	chr12:47528227-47528228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11183755	chr12:47528236-47528237	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563170628	chr12:47528267-47528268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs151228069	chr12:47528276-47528277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549249559	chr12:47528312-47528313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543606341	chr12:47528327-47528328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566060353	chr12:47528350-47528351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112995698	chr12:47528386-47528387	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187422292	chr12:47528392-47528393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571932606	chr12:47528427-47528428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs190958662	chr12:47528443-47528444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10881049	chr12:47528453-47528454	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs567024161	chr12:47528470-47528471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567806225	chr12:47528495-47528496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535534239	chr12:47528512-47528513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555123498	chr12:47528515-47528516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572117554	chr12:47528519-47528520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs540589616	chr12:47528520-47528521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs533884136	chr12:47528523-47528524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12297140	chr12:47528524-47528525	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs577492503	chr12:47528529-47528530	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs142476595	chr12:47528544-47528545	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563488196	chr12:47528560-47528561	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529121267	chr12:47528613-47528614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146566943	chr12:47528643-47528644	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs35599246	chr12:47528722-47528723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559546332	chr12:47528746-47528747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528609228	chr12:47528816-47528817	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551769456	chr12:47528833-47528834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs567276347	chr12:47528837-47528838	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47497400-47535200	Weak transcription	Aorta	Aorta
2	chr12:47505600-47528800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:47505800-47538600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:47506000-47535000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:47506200-47538400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:47506800-47528800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:47507400-47532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:47508400-47545200	Weak transcription	HSMMtube	muscle
9	chr12:47509200-47528800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:47509200-47529200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:47509400-47531800	Weak transcription	Primary T cells from cord blood	blood
12	chr12:47516200-47530200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:47516200-47533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:47517000-47532400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:47517200-47534600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr12:47517400-47538400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:47518800-47533000	Weak transcription	NHEK	skin
18	chr12:47519400-47533000	Weak transcription	HSMM	muscle
19	chr12:47519600-47532400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:47525200-47535200	Weak transcription	Esophagus	oesophagus
21	chr12:47525800-47533200	Weak transcription	Spleen	Spleen
22	chr12:47526000-47528200	Enhancers	A549	lung
23	chr12:47526400-47533000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:47526600-47529200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:47526600-47531800	Weak transcription	Fetal Intestine Small	intestine
26	chr12:47527000-47547800	Weak transcription	Ovary	ovary
27	chr12:47527200-47528200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:47527200-47533400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:47528200-47533000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:47528800-47529600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:47528800-47530400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr12:47528800-47530400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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