Variant report

Variant	esv2761734
Chromosome Location	chr12:40764769-40776064
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:40768243..40769926-chr12:40782774..40784277,2	K562	blood:
2	chr12:40718929..40719819-chr12:40768166..40769419,3	MCF-7	breast:
3	12:40703633-40711447..12:40765226-40767074	GM12878	blood:
4	chr12:40730058..40730795-chr12:40768301..40769589,4	MCF-7	breast:
5	chr12:40730810..40731494-chr12:40768592..40769125,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000188906	chromatin interactions

Extended variants
information (count: 213 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11609433	chr12:40764769-40764770	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188493051	chr12:40764776-40764777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527644595	chr12:40764822-40764823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540145668	chr12:40764880-40764881	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546560412	chr12:40764920-40764921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371984345	chr12:40764934-40764935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558327137	chr12:40764935-40764936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576588261	chr12:40764956-40764957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544277954	chr12:40764977-40764978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562416400	chr12:40764984-40764985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192907554	chr12:40765001-40765002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144826832	chr12:40765129-40765130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184500588	chr12:40765133-40765134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527580423	chr12:40765158-40765159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561601457	chr12:40765159-40765160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57015926	chr12:40765164-40765165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78235481	chr12:40765166-40765167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs56820450	chr12:40765211-40765212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186973070	chr12:40765251-40765252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191828444	chr12:40765255-40765256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs535960213	chr12:40765319-40765320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149328564	chr12:40765328-40765329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs77250255	chr12:40765344-40765345	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs550792696	chr12:40765383-40765384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566125998	chr12:40765406-40765407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs564081321	chr12:40765463-40765464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148087800	chr12:40765475-40765476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376584259	chr12:40765558-40765559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576688808	chr12:40765565-40765566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs149833872	chr12:40765586-40765587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs58035649	chr12:40765599-40765600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs76853501	chr12:40765600-40765601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs4374003	chr12:40765603-40765604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs574345039	chr12:40765606-40765607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs1991368	chr12:40765609-40765610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs1427274	chr12:40765620-40765621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371785577	chr12:40765644-40765645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1427275	chr12:40765650-40765651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs1427276	chr12:40765659-40765660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1427277	chr12:40765685-40765686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs1427278	chr12:40765689-40765690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1427279	chr12:40765696-40765697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs555937818	chr12:40765728-40765729	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574186974	chr12:40765731-40765732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183560805	chr12:40765740-40765741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189263385	chr12:40765928-40765929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7962370	chr12:40765929-40765930	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs545801917	chr12:40766076-40766077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533078070	chr12:40766088-40766089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111917716	chr12:40766135-40766136	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	20164919	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
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
2	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr12:40726200-40766600	Weak transcription	A549	lung
4	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:40747800-40765000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr12:40747800-40765200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr12:40754800-40765600	Weak transcription	Aorta	Aorta
8	chr12:40754800-40767600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:40758200-40765600	Weak transcription	Adipose Nuclei	Adipose
10	chr12:40759000-40765200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:40760000-40765600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:40762400-40765400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr12:40764600-40769800	Weak transcription	Primary B cells from cord blood	blood
14	chr12:40765000-40766600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:40765000-40766800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:40765200-40766800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:40766600-40767400	Enhancers	A549	lung
18	chr12:40767600-40768800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:40767800-40768000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:40768200-40768400	Enhancers	Pancreas	Pancrea
21	chr12:40773200-40773400	Enhancers	Small Intestine	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links