Variant report

Variant	nsv516472
Chromosome Location	chr12:105712603-105717598
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105711659..105713820-chr12:105714084..105716843,2	K562	blood:
2	chr12:105715517..105717332-chr12:105717819..105719410,2	MCF-7	breast:
3	chr12:105713189..105714168-chr12:105776809..105777553,3	MCF-7	breast:
4	chr12:105716740..105719219-chr12:105722490..105724843,2	MCF-7	breast:
5	chr12:105712887..105714905-chr12:105718530..105720792,2	MCF-7	breast:
6	chr12:105711659..105713820-chr12:105714084..105716843,2	K562	blood:
7	chr12:105714730..105715298-chr12:105772516..105773065,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000235162	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10746022	chr12:105712603-105712604	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142657490	chr12:105712632-105712633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556841445	chr12:105712660-105712661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117513590	chr12:105712694-105712695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35819771	chr12:105712751-105712752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535552644	chr12:105712767-105712768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555485507	chr12:105712772-105712773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193104922	chr12:105712792-105712793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540987230	chr12:105712795-105712796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564141482	chr12:105712866-105712867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375140872	chr12:105712928-105712929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544130713	chr12:105712936-105712937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185846879	chr12:105712960-105712961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73401713	chr12:105712989-105712990	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187507381	chr12:105713093-105713094	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576649591	chr12:105713120-105713121	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528199210	chr12:105713132-105713133	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1469663	chr12:105713200-105713201	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1469662	chr12:105713218-105713219	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138117479	chr12:105713226-105713227	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192268889	chr12:105713363-105713364	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535816305	chr12:105713415-105713416	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149594718	chr12:105713449-105713450	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548059394	chr12:105713491-105713492	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374485180	chr12:105713496-105713497	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368327404	chr12:105713526-105713527	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184102157	chr12:105713540-105713541	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188768043	chr12:105713554-105713555	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2163718	chr12:105713590-105713591	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566176160	chr12:105713610-105713611	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144268853	chr12:105713628-105713629	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs67114583	chr12:105713645-105713646	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375566437	chr12:105713651-105713652	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369070212	chr12:105713657-105713658	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558303359	chr12:105713685-105713686	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564051126	chr12:105713705-105713706	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11608886	chr12:105713710-105713711	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543198116	chr12:105713779-105713780	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560013863	chr12:105713818-105713819	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180691005	chr12:105713824-105713825	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557467832	chr12:105713837-105713838	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537445943	chr12:105713854-105713855	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528161555	chr12:105713874-105713875	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113399516	chr12:105713879-105713880	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs555844910	chr12:105713914-105713915	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564701901	chr12:105713935-105713936	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530573245	chr12:105713995-105713996	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550589994	chr12:105714016-105714017	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567509981	chr12:105714021-105714022	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570967632	chr12:105714033-105714034	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105706400-105715000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:105709400-105717200	Enhancers	Fetal Intestine Small	intestine
3	chr12:105709600-105713400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:105709800-105713800	Weak transcription	Primary T cells from cord blood	blood
5	chr12:105709800-105714600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:105710000-105713200	Weak transcription	Gastric	stomach
7	chr12:105710000-105713600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:105710000-105715000	Weak transcription	Lung	lung
9	chr12:105710600-105712800	Enhancers	NH-A	brain
10	chr12:105710600-105716200	Enhancers	Stomach Mucosa	stomach
11	chr12:105711000-105716800	Enhancers	Liver	Liver
12	chr12:105711200-105713400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:105711600-105713200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:105711600-105713200	Weak transcription	Pancreas	Pancrea
15	chr12:105711600-105713600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:105711600-105716600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:105711800-105715400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:105712000-105716600	Enhancers	NHDF-Ad	bronchial
19	chr12:105712200-105713000	Enhancers	Colonic Mucosa	Colon
20	chr12:105712200-105715400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:105712200-105715800	Weak transcription	HSMMtube	muscle
22	chr12:105712200-105716800	Enhancers	Fetal Intestine Large	intestine
23	chr12:105712400-105713000	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr12:105712400-105714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:105712400-105715800	Weak transcription	HSMM	muscle
26	chr12:105712400-105720000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:105712600-105713000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:105712600-105713800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr12:105712600-105714000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:105712600-105714000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr12:105712600-105714600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:105712600-105715200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:105712600-105715600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:105712600-105715600	Enhancers	HepG2	liver
35	chr12:105712600-105715600	Weak transcription	Osteobl	bone
36	chr12:105712600-105716400	Enhancers	A549	lung
37	chr12:105712600-105717800	Weak transcription	NHLF	lung
38	chr12:105712800-105719000	Weak transcription	NH-A	brain
39	chr12:105713000-105715600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:105713000-105716000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:105713200-105713400	Enhancers	Pancreas	Pancrea
42	chr12:105713200-105714200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:105713200-105714200	Enhancers	Gastric	stomach
44	chr12:105713400-105713600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr12:105713400-105713800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr12:105713400-105715400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:105713400-105724000	Weak transcription	Pancreas	Pancrea
48	chr12:105713600-105714200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr12:105713600-105714600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:105713800-105714200	Enhancers	Primary T cells from cord blood	blood

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