Variant report

Variant	nsv560051
Chromosome Location	chr12:105092213-105110554
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:105080276..105081911-chr12:105099185..105102004,2	K562	blood:
2	chr12:105106368..105108047-chr12:105116820..105118467,2	K562	blood:
3	chr12:105101023..105102859-chr12:105102947..105105889,2	MCF-7	breast:
4	chr12:105095552..105097444-chr12:105103137..105104893,2	MCF-7	breast:
5	chr12:105095552..105097444-chr12:105103137..105104893,2	MCF-7	breast:
6	chr12:105101710..105104626-chr12:105147827..105149520,2	K562	blood:
7	chr12:105110301..105112543-chr12:105115693..105118210,2	K562	blood:
8	chr12:105094562..105097147-chr12:105106681..105108235,2	MCF-7	breast:
9	chr12:105094562..105097147-chr12:105106681..105108235,2	MCF-7	breast:
10	chr12:105101023..105102859-chr12:105102947..105105889,2	MCF-7	breast:

No data

Extended variants
information (count: 702 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:702 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs312141	chr12:105092213-105092214	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545097803	chr12:105092223-105092224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144073132	chr12:105092245-105092246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532552587	chr12:105092279-105092280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546544014	chr12:105092286-105092287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192126833	chr12:105092290-105092291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532019507	chr12:105092323-105092324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548251809	chr12:105092360-105092361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561514886	chr12:105092373-105092374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141874623	chr12:105092446-105092447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372313481	chr12:105092516-105092517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113532587	chr12:105092573-105092574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570646887	chr12:105092584-105092585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539212067	chr12:105092592-105092593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575270479	chr12:105092609-105092610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185109949	chr12:105092619-105092620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189488725	chr12:105092679-105092680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181807885	chr12:105092699-105092700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554988904	chr12:105092708-105092709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12809215	chr12:105092709-105092710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189050528	chr12:105092747-105092748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553949839	chr12:105092748-105092749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146261513	chr12:105092753-105092754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12228186	chr12:105092807-105092808	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529585991	chr12:105092808-105092809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140028229	chr12:105092839-105092840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181498398	chr12:105092850-105092851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115877295	chr12:105092883-105092884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561726626	chr12:105092920-105092921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527264539	chr12:105092933-105092934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547485116	chr12:105093041-105093042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541595225	chr12:105093051-105093052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142247143	chr12:105093052-105093053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559483955	chr12:105093132-105093133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532842717	chr12:105093192-105093193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566164494	chr12:105093228-105093229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565662198	chr12:105093271-105093272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533367598	chr12:105093315-105093316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549612346	chr12:105093327-105093328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569506191	chr12:105093344-105093345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535372371	chr12:105093347-105093348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548961780	chr12:105093354-105093355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373477691	chr12:105093363-105093364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568466065	chr12:105093488-105093489	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533908539	chr12:105093492-105093493	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2081808	chr12:105093533-105093534	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs569858883	chr12:105093567-105093568	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs151246820	chr12:105093568-105093569	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568834252	chr12:105093569-105093570	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75441068	chr12:105093574-105093575	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:743 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105067800-105096000	Weak transcription	K562	blood
2	chr12:105080400-105131800	Weak transcription	NHEK	skin
3	chr12:105083600-105103600	Weak transcription	Placenta	Placenta
4	chr12:105085000-105097800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:105086200-105096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:105086400-105095600	Weak transcription	Fetal Heart	heart
7	chr12:105086400-105104400	Weak transcription	A549	lung
8	chr12:105086800-105103200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:105087800-105093800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:105087800-105094600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:105087800-105095600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:105087800-105096200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:105089000-105105600	Weak transcription	Esophagus	oesophagus
14	chr12:105089600-105095400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:105089800-105096200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:105089800-105097400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:105090000-105092600	Weak transcription	HSMMtube	muscle
18	chr12:105090000-105093000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:105090000-105093000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:105090000-105093400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:105090000-105093400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:105090000-105095400	Weak transcription	Left Ventricle	heart
23	chr12:105090000-105095600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:105090000-105095600	Weak transcription	Right Ventricle	heart
25	chr12:105090000-105095800	Weak transcription	Fetal Stomach	stomach
26	chr12:105090000-105096000	Weak transcription	Adipose Nuclei	Adipose
27	chr12:105090000-105096200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:105090000-105096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:105090000-105096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:105090000-105096400	Weak transcription	Primary T cells from cord blood	blood
31	chr12:105090000-105096400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:105090000-105096400	Weak transcription	Fetal Muscle Leg	muscle
33	chr12:105090000-105097400	Weak transcription	Fetal Kidney	kidney
34	chr12:105090000-105097800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:105090000-105102000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr12:105090000-105104400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:105090000-105104600	Weak transcription	Fetal Brain Female	brain
38	chr12:105090000-105104600	Weak transcription	HMEC	breast
39	chr12:105090200-105092600	Weak transcription	NH-A	brain
40	chr12:105090200-105092800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr12:105090200-105093200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:105090200-105093200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:105090200-105093200	Weak transcription	GM12878-XiMat	blood
44	chr12:105090200-105093400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:105090200-105113400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:105090400-105093600	Weak transcription	Primary B cells from cord blood	blood
47	chr12:105090400-105097000	Weak transcription	Fetal Thymus	thymus
48	chr12:105090400-105113400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:105090600-105095000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:105090600-105097800	Enhancers	NHDF-Ad	bronchial

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