Variant report

Variant	nsv899501
Chromosome Location	chr12:105819046-105950801
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:35)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105929404..105931315-chr12:105934200..105936102,2	MCF-7	breast:
2	chr12:105929404..105931315-chr12:105934200..105936102,2	MCF-7	breast:
3	chr12:105855241..105857321-chr12:105863634..105866501,2	MCF-7	breast:
4	chr12:105849042..105849777-chr12:106599269..106599897,2	MCF-7	breast:
5	chr12:105842078..105844568-chr12:105853685..105856268,2	K562	blood:
6	chr12:105837444..105839027-chr12:106252891..106255471,2	MCF-7	breast:
7	chr12:105828121..105830323-chr12:105840483..105843447,2	MCF-7	breast:
8	chr12:105942937..105945228-chr12:105946736..105948903,2	K562	blood:
9	chr12:105864464..105865998-chr12:105866420..105868253,2	K562	blood:
10	chr12:105874327..105876569-chr12:105894873..105897769,2	MCF-7	breast:
11	chr12:105946907..105949767-chr12:106531210..106533511,2	MCF-7	breast:
12	chr12:105938157..105940213-chr12:105940586..105943548,3	K562	blood:
13	chr12:105842078..105844568-chr12:105853685..105856268,2	K562	blood:
14	chr12:105844704..105846752-chr12:105847595..105849789,2	MCF-7	breast:
15	chr12:2986046..2986877-chr12:105837647..105838612,2	Hela-S3	cervix:
16	chr12:105913181..105915787-chr12:105931224..105933054,2	MCF-7	breast:
17	chr12:105866822..105868644-chr12:105870694..105872285,2	K562	blood:
18	chr12:105866822..105868644-chr12:105870694..105872285,2	K562	blood:
19	chr12:105928464..105929440-chr3:29212853..29213391,2	MCF-7	breast:
20	chr12:105874327..105876569-chr12:105894873..105897769,2	MCF-7	breast:
21	chr12:105844704..105846752-chr12:105847595..105849789,2	MCF-7	breast:
22	chr12:105944792..105946780-chr12:105955206..105957369,2	MCF-7	breast:
23	chr12:105848600..105850888-chr12:106533962..106536336,2	MCF-7	breast:
24	chr12:105949944..105952477-chr12:105966821..105969581,2	MCF-7	breast:
25	chr12:105930539..105931400-chr2:2102731..2103364,2	MCF-7	breast:
26	chr12:105878812..105881754-chr12:106532109..106533760,2	MCF-7	breast:
27	chr12:105864464..105865998-chr12:105866420..105868253,2	K562	blood:
28	chr12:105837457..105842094-chr12:106531449..106535531,7	MCF-7	breast:
29	chr12:105942937..105945228-chr12:105946736..105948903,2	K562	blood:
30	chr12:105861881..105863943-chr12:106421999..106424753,2	K562	blood:
31	chr12:105938157..105940213-chr12:105940586..105943548,3	K562	blood:
32	chr12:105855241..105857321-chr12:105863634..105866501,2	MCF-7	breast:
33	chr12:105848787..105849764-chr12:106529532..106530649,7	MCF-7	breast:
34	chr12:105828121..105830323-chr12:105840483..105843447,2	MCF-7	breast:
35	chr12:105913181..105915787-chr12:105931224..105933054,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APPL2-4	chr12:105871938-105873405	ucscGeneNc_uc001tma_2
2	lnc-C12orf75-5	chr12:105863639-105863851	NONHSAT030457
3	lnc-C12orf75-5	chr12:105939854-105940132	NONHSAT030457
4	lnc-C12orf75-5	chr12:105907432-105907553	NONHSAT030457
5	lnc-C12orf75-6	chr12:105946682-105953346	NONHSAT030458
6	lnc-APPL2-2	chr12:105836749-105836785	XLOC_010183
7	lnc-C12orf75-5	chr12:105939117-105939337	NONHSAT030457
8	lnc-C12orf75-5	chr12:105897693-105905365	NONHSAT030457
9	lnc-C12orf75-5	chr12:105943354-105946670	NONHSAT030457
10	lnc-APPL2-2	chr12:105837640-105837870	XLOC_010183

No data

Variant related genes	Relation type
ENSG00000111206	chromatin interactions
ENSG00000078246	chromatin interactions
ENSG00000074590	chromatin interactions
ENSG00000171792	chromatin interactions
RREB1	miRNA target sites

Extended variants
information (count: 4859 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:4859 , 50 per page) page: 1 2 3 4 5 6 7 ... 98

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17037085	chr12:105819046-105819047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs551620393	chr12:105819064-105819065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182567570	chr12:105819079-105819080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75178855	chr12:105819110-105819111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562299205	chr12:105819115-105819116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs151112874	chr12:105819274-105819275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535488262	chr12:105819327-105819328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574088355	chr12:105819379-105819380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112819755	chr12:105819411-105819412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572426761	chr12:105819428-105819429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541291632	chr12:105819540-105819541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558339861	chr12:105819584-105819585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192555654	chr12:105819636-105819637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184299353	chr12:105819664-105819665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140734367	chr12:105819684-105819685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs150086520	chr12:105819762-105819763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375216312	chr12:105819770-105819771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542667455	chr12:105819827-105819828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35677646	chr12:105819887-105819888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147807818	chr12:105819924-105819925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528594705	chr12:105819943-105819944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528407661	chr12:105819957-105819958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151098022	chr12:105819965-105819966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372081608	chr12:105819967-105819968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377446459	chr12:105820017-105820018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370384661	chr12:105820029-105820030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141185651	chr12:105820042-105820043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376538827	chr12:105820065-105820066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374689180	chr12:105820090-105820091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146984345	chr12:105820101-105820102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193054724	chr12:105820124-105820125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570077240	chr12:105820167-105820168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535527837	chr12:105820168-105820169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78076750	chr12:105820173-105820174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565695009	chr12:105820185-105820186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7970980	chr12:105820253-105820254	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs55721148	chr12:105820277-105820278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs578185918	chr12:105820316-105820317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543683987	chr12:105820339-105820340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557501675	chr12:105820346-105820347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143202930	chr12:105820447-105820448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559511405	chr12:105820489-105820490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184815408	chr12:105820542-105820543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375044925	chr12:105820553-105820554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528141809	chr12:105820591-105820592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74315569	chr12:105820628-105820629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565065662	chr12:105820659-105820660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530810217	chr12:105820660-105820661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs550520746	chr12:105820743-105820744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7306679	chr12:105820746-105820747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:946 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105791000-105820200	Weak transcription	Pancreas	Pancrea
2	chr12:105812800-105821400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:105812800-105821600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:105813000-105819800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:105813000-105832400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:105813400-105823400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:105813600-105821600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:105816200-105820200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:105816200-105825400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:105817000-105825400	Weak transcription	HSMMtube	muscle
11	chr12:105817400-105821200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:105817600-105821200	Weak transcription	HUVEC	blood vessel
13	chr12:105817600-105821200	Weak transcription	NHEK	skin
14	chr12:105817600-105821400	Weak transcription	HMEC	breast
15	chr12:105817800-105827200	Weak transcription	Hela-S3	cervix
16	chr12:105819000-105819400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr12:105819200-105819800	Enhancers	Fetal Muscle Leg	muscle
18	chr12:105819200-105820000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr12:105819800-105821200	Enhancers	Liver	Liver
20	chr12:105819800-105823400	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:105820200-105820400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:105820200-105820600	Enhancers	Fetal Intestine Small	intestine
23	chr12:105820200-105820600	Enhancers	Gastric	stomach
24	chr12:105820200-105820800	Enhancers	Pancreas	Pancrea
25	chr12:105820200-105821400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:105820400-105823400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:105820600-105832600	Weak transcription	Gastric	stomach
28	chr12:105820800-105821200	Weak transcription	Pancreas	Pancrea
29	chr12:105821200-105822000	Enhancers	Pancreas	Pancrea
30	chr12:105821200-105823000	Enhancers	HUVEC	blood vessel
31	chr12:105821200-105824200	Enhancers	NHEK	skin
32	chr12:105821200-105824400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:105821400-105821600	Enhancers	Right Atrium	heart
34	chr12:105821400-105821800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:105821400-105822000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:105821400-105822400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:105821400-105822600	Enhancers	HMEC	breast
38	chr12:105821400-105824000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:105821400-105825000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:105821600-105822000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr12:105821600-105822000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:105821600-105822000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:105821600-105822000	Enhancers	NH-A	brain
44	chr12:105821600-105828000	Weak transcription	Right Atrium	heart
45	chr12:105822000-105827200	Weak transcription	NH-A	brain
46	chr12:105822400-105826400	Enhancers	Fetal Lung	lung
47	chr12:105822400-105827200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:105822600-105827200	Weak transcription	HMEC	breast
49	chr12:105823000-105823400	Weak transcription	HUVEC	blood vessel
50	chr12:105823400-105823600	Enhancers	Fetal Muscle Leg	muscle

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