Variant report

Variant	nsv1052202
Chromosome Location	chr12:40322607-40406760
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:40324480..40325465-chr12:40399923..40400479,2	MCF-7	breast:
2	12:40402537-40410050..12:40497414-40501128	K562	blood:
3	chr12:40404217..40405558-chr12:40500388..40503110,15	MCF-7	breast:
4	chr12:40161730..40164453-chr12:40368546..40370092,2	K562	blood:
5	12:40402537-40410050..12:40687302-40691796	GM12878	blood:
6	chr12:40404668..40405271-chr12:40503732..40504617,2	MCF-7	breast:
7	12:40402537-40410050..12:40793507-40812339	GM12878	blood:
8	12:40350301-40351146..12:40703633-40711447	GM12878	blood:
9	chr12:40158493..40159396-chr12:40384037..40384925,5	MCF-7	breast:
10	chr12:40365099..40366790-chr12:40368418..40370454,2	K562	blood:
11	chr12:40324480..40325465-chr12:40399923..40400479,2	MCF-7	breast:
12	12:40355227-40369361..12:40703633-40711447	GM12878	blood:
13	chr12:40218165..40218758-chr12:40352165..40352674,2	MCF-7	breast:
14	chr12:40324732..40326472-chr12:40398965..40400889,3	MCF-7	breast:
15	chr12:40399921..40402831-chr12:40405268..40407402,2	MCF-7	breast:
16	chr12:40400651..40403072-chr12:40497922..40501179,3	MCF-7	breast:
17	chr12:40324481..40326427-chr12:40398894..40400439,2	MCF-7	breast:
18	chr12:40404779..40405544-chr12:40501079..40501769,2	K562	blood:
19	12:40402537-40410050..12:40703633-40711447	GM12878	blood:
20	chr12:40324481..40326427-chr12:40398894..40400439,2	MCF-7	breast:
21	chr12:40365099..40366790-chr12:40368418..40370454,2	K562	blood:
22	chr12:40200606..40201630-chr12:40404872..40405807,3	MCF-7	breast:
23	chr12:40401380..40404194-chr12:40458458..40460119,2	K562	blood:
24	chr12:40324732..40326472-chr12:40398965..40400889,3	MCF-7	breast:
25	chr12:40366212..40368701-chr12:40371213..40373110,2	K562	blood:
26	chr12:40366212..40368701-chr12:40371213..40373110,2	K562	blood:
27	chr12:40158893..40159412-chr12:40383653..40384584,2	K562	blood:
28	chr12:40399921..40402831-chr12:40405268..40407402,2	MCF-7	breast:
29	12:40401438-40402537..12:40703633-40711447	GM12878	blood:
30	chr12:40158566..40159336-chr12:40404675..40405547,2	MCF-7	breast:
31	12:40400312-40401438..12:40703633-40711447	GM12878	blood:
32	chr12:40224533..40225359-chr12:40351916..40352430,2	MCF-7	breast:
33	chr12:40158540..40159495-chr12:40351942..40352752,5	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	SLC2A13	hsa-miR-335-5p	chr12:40344059-40344081

Variant related genes	Relation type
ENSG00000188906	chromatin interactions
ENSG00000223082	chromatin interactions
ENSG00000151229	chromatin interactions
ENSG00000205592	chromatin interactions

Extended variants
information (count: 3013 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:3013 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369203208	chr12:40322702-40322703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540881076	chr12:40322787-40322788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540181793	chr12:40322797-40322798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17127277	chr12:40322824-40322825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs184788045	chr12:40322843-40322844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188388754	chr12:40322879-40322880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558418802	chr12:40322912-40322913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559132252	chr12:40323038-40323039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372736146	chr12:40323093-40323094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544605733	chr12:40323131-40323132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563017544	chr12:40323136-40323137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180812068	chr12:40323139-40323140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542475139	chr12:40323146-40323147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186516898	chr12:40323158-40323159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560533988	chr12:40323164-40323165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377182115	chr12:40323219-40323220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527858286	chr12:40323245-40323246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566960634	chr12:40323261-40323262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545570302	chr12:40323267-40323268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147514593	chr12:40323300-40323301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191419319	chr12:40323307-40323308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181117234	chr12:40323317-40323318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117068956	chr12:40323354-40323355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568646913	chr12:40323412-40323413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535960570	chr12:40323422-40323423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554622218	chr12:40323429-40323430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs75144021	chr12:40323462-40323463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374431069	chr12:40323475-40323476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533950527	chr12:40323511-40323512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558617406	chr12:40323512-40323513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575945955	chr12:40323531-40323532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577203717	chr12:40323532-40323533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71884033	chr12:40323566-40323567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375978682	chr12:40323569-40323570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544607388	chr12:40323587-40323588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150062552	chr12:40323609-40323610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115341133	chr12:40323621-40323622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11174338	chr12:40323641-40323642	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187006350	chr12:40323642-40323643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560586003	chr12:40323708-40323709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572592852	chr12:40323722-40323723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371288372	chr12:40323739-40323740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546375556	chr12:40323799-40323800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575187485	chr12:40323801-40323802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564655593	chr12:40323825-40323826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531870530	chr12:40323857-40323858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532931357	chr12:40323873-40323874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550029123	chr12:40323880-40323881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2896826	chr12:40323922-40323923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529599676	chr12:40323925-40323926	Weak transcription Enhancers	n/a	n/a	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
Osteosarcoma	21215367	CNVD

Chromatin state (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40316200-40329400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40317400-40325400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:40317800-40329200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:40321800-40323600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:40322000-40322800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:40322000-40323000	Enhancers	Brain Germinal Matrix	brain
7	chr12:40322000-40323000	Enhancers	Fetal Brain Male	brain
8	chr12:40322000-40323000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr12:40322200-40324200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:40322400-40323000	Enhancers	Colon Smooth Muscle	Colon
11	chr12:40322400-40323000	Enhancers	Fetal Brain Female	brain
12	chr12:40322800-40325000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr12:40323000-40324000	Weak transcription	Fetal Brain Male	brain
14	chr12:40323000-40324400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:40323000-40325000	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:40323600-40337800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:40324000-40324200	Enhancers	Fetal Brain Male	brain
18	chr12:40324200-40325200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:40324200-40325200	Weak transcription	Aorta	Aorta
20	chr12:40324200-40326400	Enhancers	Liver	Liver
21	chr12:40324400-40326600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr12:40325000-40325200	Enhancers	Colon Smooth Muscle	Colon
23	chr12:40325000-40325400	Enhancers	Left Ventricle	heart
24	chr12:40325000-40325400	Enhancers	Ovary	ovary
25	chr12:40325000-40326400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:40325200-40325400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:40325200-40325400	Enhancers	Aorta	Aorta
28	chr12:40325400-40325600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:40325400-40326600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:40325400-40327000	Weak transcription	Aorta	Aorta
31	chr12:40325400-40329600	Weak transcription	Ovary	ovary
32	chr12:40325800-40326400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr12:40326000-40326400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:40326200-40326600	Enhancers	Right Atrium	heart
35	chr12:40326400-40328800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:40326400-40330800	Weak transcription	Liver	Liver
37	chr12:40327000-40327400	Enhancers	Aorta	Aorta
38	chr12:40327400-40330600	Weak transcription	Aorta	Aorta
39	chr12:40328200-40332000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr12:40328800-40329800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:40328800-40330400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr12:40329000-40329600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr12:40329200-40329400	Enhancers	K562	blood
44	chr12:40329200-40329600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:40329200-40329800	Enhancers	Osteobl	bone
46	chr12:40329400-40329800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:40329400-40329800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:40329400-40330000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr12:40329600-40330000	Enhancers	Ovary	ovary
50	chr12:40329600-40330600	Weak transcription	K562	blood

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