Variant report

Variant	nsv976033
Chromosome Location	chr12:60016137-60023992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:60015509..60017569-chr12:60019579..60022137,3	MCF-7	breast:
2	chr12:60013598..60016258-chr12:60017696..60019251,2	MCF-7	breast:
3	chr12:59989713..59992381-chr12:60015573..60017703,2	MCF-7	breast:
4	chr12:60017381..60019392-chr12:60100051..60102873,2	MCF-7	breast:
5	chr12:60013598..60016258-chr12:60017696..60019251,2	MCF-7	breast:
6	chr12:59989123..59990691-chr12:60022460..60024947,2	MCF-7	breast:
7	chr12:60015509..60017569-chr12:60019579..60022137,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118596	chromatin interactions

Extended variants
information (count: 242 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:242 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569014750	chr12:60016169-60016170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs141922331	chr12:60016174-60016175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs557924358	chr12:60016245-60016246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189503799	chr12:60016251-60016252	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs540902615	chr12:60016260-60016261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554187709	chr12:60016303-60016304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572761836	chr12:60016304-60016305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150651465	chr12:60016345-60016346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182086486	chr12:60016476-60016477	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375773243	chr12:60016481-60016482	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530618167	chr12:60016516-60016517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565884725	chr12:60016519-60016520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs75131866	chr12:60016532-60016533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560213561	chr12:60016577-60016578	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10877322	chr12:60016620-60016621	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs79679105	chr12:60016696-60016697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528448164	chr12:60016700-60016701	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369121414	chr12:60016746-60016747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548330515	chr12:60016785-60016786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546840221	chr12:60016788-60016789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs545780531	chr12:60016805-60016806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572700142	chr12:60016828-60016829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373365533	chr12:60016859-60016860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs57399813	chr12:60016871-60016872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12821865	chr12:60016918-60016919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs139770641	chr12:60016950-60016951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs118101499	chr12:60016965-60016966	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144646362	chr12:60016971-60016972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186636160	chr12:60017006-60017007	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs557861646	chr12:60017096-60017097	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147872391	chr12:60017144-60017145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs571018279	chr12:60017175-60017176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77215650	chr12:60017181-60017182	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs375390908	chr12:60017215-60017216	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574252185	chr12:60017218-60017219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs543387785	chr12:60017264-60017265	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs555392011	chr12:60017335-60017336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs191096036	chr12:60017373-60017374	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544302863	chr12:60017477-60017478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs76690966	chr12:60017519-60017520	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs181783400	chr12:60017528-60017529	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs139841478	chr12:60017551-60017552	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560340575	chr12:60017558-60017559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529139593	chr12:60017695-60017696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548897459	chr12:60017730-60017731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536795159	chr12:60017787-60017788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555310292	chr12:60017791-60017792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576798150	chr12:60017795-60017796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562518156	chr12:60017800-60017801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185315379	chr12:60017801-60017802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Urothelial cell carcinoma	18451213	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	CNVD
Fibroblasts	20926602	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	20080666	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	17133270	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma	17090523	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60006200-60019400	Weak transcription	Thymus	Thymus
2	chr12:60006400-60031400	Weak transcription	Left Ventricle	heart
3	chr12:60007200-60031600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:60009600-60020400	Weak transcription	NHDF-Ad	bronchial
5	chr12:60009800-60033200	Weak transcription	Ovary	ovary
6	chr12:60013000-60021200	Weak transcription	NHLF	lung
7	chr12:60013600-60055400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:60014400-60018600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:60014400-60023800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:60014400-60037400	Weak transcription	Primary T cells from cord blood	blood
11	chr12:60014600-60016600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:60014600-60026200	Weak transcription	Aorta	Aorta
13	chr12:60015000-60018400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:60015000-60020200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:60015200-60018600	Weak transcription	Pancreas	Pancrea
16	chr12:60015200-60024800	Weak transcription	Adipose Nuclei	Adipose
17	chr12:60015200-60027600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:60015200-60030400	Weak transcription	Fetal Heart	heart
19	chr12:60015200-60037400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:60015200-60038000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:60015400-60021800	Weak transcription	Primary B cells from cord blood	blood
22	chr12:60015400-60023200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:60015400-60038000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr12:60015800-60020600	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr12:60016000-60017400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:60016000-60018200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:60016000-60018400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:60016600-60017000	Enhancers	Fetal Brain Male	brain
29	chr12:60016600-60022200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr12:60017400-60019200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:60018200-60018800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr12:60018400-60018800	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:60018400-60019400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:60018600-60018800	Enhancers	Pancreas	Pancrea
35	chr12:60018600-60019000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:60018600-60019400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr12:60018600-60019400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:60018800-60020400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr12:60018800-60025600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:60018800-60044400	Weak transcription	Pancreas	Pancrea
41	chr12:60019000-60027600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:60019200-60019600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr12:60019200-60020400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:60019400-60020200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:60019400-60025000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:60019400-60026200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:60020200-60020800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:60020200-60021000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:60020200-60021000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr12:60020200-60021600	Enhancers	HUVEC	blood vessel

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