Variant report

Variant	nsv832507
Chromosome Location	chr12:105821685-106005186
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:47)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105944792..105946780-chr12:105955206..105957369,2	MCF-7	breast:
2	chr12:105844704..105846752-chr12:105847595..105849789,2	MCF-7	breast:
3	chr12:105848600..105850888-chr12:106533962..106536336,2	MCF-7	breast:
4	chr12:105861881..105863943-chr12:106421999..106424753,2	K562	blood:
5	chr12:105976268..105977876-chr12:105978553..105980790,2	K562	blood:
6	chr12:105874327..105876569-chr12:105894873..105897769,2	MCF-7	breast:
7	chr12:105938157..105940213-chr12:105940586..105943548,3	K562	blood:
8	chr12:105842078..105844568-chr12:105853685..105856268,2	K562	blood:
9	chr12:105866822..105868644-chr12:105870694..105872285,2	K562	blood:
10	chr12:105913181..105915787-chr12:105931224..105933054,2	MCF-7	breast:
11	chr12:2986046..2986877-chr12:105837647..105838612,2	Hela-S3	cervix:
12	chr12:105977751..105980929-chr12:105984066..105986199,3	K562	blood:
13	chr12:105855241..105857321-chr12:105863634..105866501,2	MCF-7	breast:
14	chr12:105844704..105846752-chr12:105847595..105849789,2	MCF-7	breast:
15	chr12:105849042..105849777-chr12:106599269..106599897,2	MCF-7	breast:
16	chr12:105929404..105931315-chr12:105934200..105936102,2	MCF-7	breast:
17	chr12:105842078..105844568-chr12:105853685..105856268,2	K562	blood:
18	chr12:105848787..105849764-chr12:106529532..106530649,7	MCF-7	breast:
19	chr12:105929404..105931315-chr12:105934200..105936102,2	MCF-7	breast:
20	chr12:105828121..105830323-chr12:105840483..105843447,2	MCF-7	breast:
21	chr12:105946907..105949767-chr12:106531210..106533511,2	MCF-7	breast:
22	chr12:105976268..105977876-chr12:105978553..105980790,2	K562	blood:
23	chr12:105952871..105955761-chr12:105958495..105960163,2	K562	blood:
24	chr12:105855241..105857321-chr12:105863634..105866501,2	MCF-7	breast:
25	chr12:105942937..105945228-chr12:105946736..105948903,2	K562	blood:
26	chr12:105949944..105952477-chr12:105966821..105969581,2	MCF-7	breast:
27	chr12:105984334..105986074-chr12:105987641..105989912,2	MCF-7	breast:
28	chr12:105864464..105865998-chr12:105866420..105868253,2	K562	blood:
29	chr12:105949944..105952477-chr12:105966821..105969581,2	MCF-7	breast:
30	chr12:105977751..105980929-chr12:105984066..105986199,3	K562	blood:
31	chr12:105944792..105946780-chr12:105955206..105957369,2	MCF-7	breast:
32	chr12:105938157..105940213-chr12:105940586..105943548,3	K562	blood:
33	chr12:105828121..105830323-chr12:105840483..105843447,2	MCF-7	breast:
34	chr12:105837444..105839027-chr12:106252891..106255471,2	MCF-7	breast:
35	chr12:105837457..105842094-chr12:106531449..106535531,7	MCF-7	breast:
36	chr12:105965452..105967319-chr12:105969377..105971110,2	MCF-7	breast:
37	chr12:105965452..105967319-chr12:105969377..105971110,2	MCF-7	breast:
38	chr12:105942937..105945228-chr12:105946736..105948903,2	K562	blood:
39	chr12:105984334..105986074-chr12:105987641..105989912,2	MCF-7	breast:
40	chr12:105913181..105915787-chr12:105931224..105933054,2	MCF-7	breast:
41	chr12:105952871..105955761-chr12:105958495..105960163,2	K562	blood:
42	chr12:105930539..105931400-chr2:2102731..2103364,2	MCF-7	breast:
43	chr12:105878812..105881754-chr12:106532109..106533760,2	MCF-7	breast:
44	chr12:105866822..105868644-chr12:105870694..105872285,2	K562	blood:
45	chr12:105874327..105876569-chr12:105894873..105897769,2	MCF-7	breast:
46	chr12:105864464..105865998-chr12:105866420..105868253,2	K562	blood:
47	chr12:105928464..105929440-chr3:29212853..29213391,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf75-5	chr12:105943354-105946670	NONHSAT030457
2	lnc-C12orf75-6	chr12:105955031-105962713	NONHSAT030458
3	lnc-APPL2-4	chr12:105871938-105873405	ucscGeneNc_uc001tma_2
4	lnc-C12orf75-5	chr12:105939117-105939337	NONHSAT030457
5	lnc-C12orf75-6	chr12:105971331-105973186	NONHSAT030458
6	lnc-C12orf75-6	chr12:105946682-105953346	NONHSAT030458
7	lnc-APPL2-2	chr12:105837640-105837870	XLOC_010183
8	lnc-C12orf75-5	chr12:105897693-105905365	NONHSAT030457
9	lnc-C12orf75-5	chr12:105907432-105907553	NONHSAT030457
10	lnc-C12orf75-5	chr12:105863639-105863851	NONHSAT030457
11	lnc-C12orf75-5	chr12:105939854-105940132	NONHSAT030457
12	lnc-APPL2-2	chr12:105836749-105836785	XLOC_010183

No data

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

Extended variants
information (count: 6550 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:6550 , 50 per page) page: 1 2 3 4 5 6 7 ... 131

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534440689	chr12:105821777-105821778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377472063	chr12:105821809-105821810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551500802	chr12:105821882-105821883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571579841	chr12:105821893-105821894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142014714	chr12:105822051-105822052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551305290	chr12:105822151-105822152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs79230486	chr12:105822194-105822195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1344779	chr12:105822221-105822222	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs553581369	chr12:105822319-105822320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571162778	chr12:105822373-105822374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572994258	chr12:105822381-105822382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146370160	chr12:105822496-105822497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558277520	chr12:105822514-105822515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183821674	chr12:105822538-105822539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112447133	chr12:105822542-105822543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116521168	chr12:105822588-105822589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374780588	chr12:105822608-105822609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189628780	chr12:105822644-105822645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574369997	chr12:105822654-105822655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139377423	chr12:105822692-105822693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559882030	chr12:105822737-105822738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528587065	chr12:105822738-105822739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116061127	chr12:105822813-105822814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565234820	chr12:105822861-105822862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150030632	chr12:105822885-105822886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71440588	chr12:105822932-105822933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550980579	chr12:105822935-105822936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181570770	chr12:105822950-105822951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147209336	chr12:105822952-105822953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373332572	chr12:105822953-105822954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71468254	chr12:105822955-105822956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530387892	chr12:105822966-105822967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs66855568	chr12:105822972-105822973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs71440589	chr12:105822973-105822974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11112524	chr12:105822977-105822978	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs567027911	chr12:105822981-105822982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145431818	chr12:105823031-105823032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17037098	chr12:105823163-105823164	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568849211	chr12:105823198-105823199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537876441	chr12:105823223-105823224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370353367	chr12:105823224-105823225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554116810	chr12:105823249-105823250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148794199	chr12:105823294-105823295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78555974	chr12:105823360-105823361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78064895	chr12:105823417-105823418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75962027	chr12:105823491-105823492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537725614	chr12:105823509-105823510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554749929	chr12:105823524-105823525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11112525	chr12:105823701-105823702	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530886291	chr12:105823706-105823707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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:1217 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105813000-105832400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:105813400-105823400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:105816200-105825400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:105817000-105825400	Weak transcription	HSMMtube	muscle
5	chr12:105817800-105827200	Weak transcription	Hela-S3	cervix
6	chr12:105819800-105823400	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:105820400-105823400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:105820600-105832600	Weak transcription	Gastric	stomach
9	chr12:105821200-105822000	Enhancers	Pancreas	Pancrea
10	chr12:105821200-105823000	Enhancers	HUVEC	blood vessel
11	chr12:105821200-105824200	Enhancers	NHEK	skin
12	chr12:105821200-105824400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:105821400-105821800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr12:105821400-105822000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:105821400-105822400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:105821400-105822600	Enhancers	HMEC	breast
17	chr12:105821400-105824000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:105821400-105825000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:105821600-105822000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:105821600-105822000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:105821600-105822000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:105821600-105822000	Enhancers	NH-A	brain
23	chr12:105821600-105828000	Weak transcription	Right Atrium	heart
24	chr12:105822000-105827200	Weak transcription	NH-A	brain
25	chr12:105822400-105826400	Enhancers	Fetal Lung	lung
26	chr12:105822400-105827200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:105822600-105827200	Weak transcription	HMEC	breast
28	chr12:105823000-105823400	Weak transcription	HUVEC	blood vessel
29	chr12:105823400-105823600	Enhancers	Fetal Muscle Leg	muscle
30	chr12:105823400-105823600	Enhancers	HUVEC	blood vessel
31	chr12:105823400-105824200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:105823600-105825400	Weak transcription	Fetal Muscle Leg	muscle
33	chr12:105823600-105825400	Weak transcription	HUVEC	blood vessel
34	chr12:105824000-105827000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:105824200-105827000	Weak transcription	NHEK	skin
36	chr12:105824200-105828000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:105824400-105827200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:105825000-105826000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:105825200-105825800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:105825400-105825800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:105825400-105825800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:105825400-105825800	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr12:105825400-105826000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:105825400-105826000	Enhancers	Fetal Muscle Leg	muscle
45	chr12:105825400-105826000	Enhancers	HSMMtube	muscle
46	chr12:105825400-105826200	Enhancers	Fetal Stomach	stomach
47	chr12:105825400-105826400	Enhancers	HUVEC	blood vessel
48	chr12:105825600-105825800	Enhancers	HSMM	muscle
49	chr12:105825600-105826000	Enhancers	Fetal Kidney	kidney
50	chr12:105825800-105827200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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