Variant report

Variant	nsv983368
Chromosome Location	chr12:120346098-120349837
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120347489..120349545-chr12:120637491..120639908,2	MCF-7	breast:
2	chr12:120347765..120349996-chr12:120352909..120355244,2	MCF-7	breast:
3	chr12:120271067..120273765-chr12:120347314..120349886,2	K562	blood:

Variant related genes	Relation type
ENSG00000089157	chromatin interactions
ENSG00000255857	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530686563	chr12:120347400-120347401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs16949789	chr12:120347563-120347564	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564006419	chr12:120347564-120347565	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs145202443	chr12:120347596-120347597	ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs147169405	chr12:120347626-120347627	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs186723076	chr12:120347628-120347629	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs528016133	chr12:120347636-120347637	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs372439550	chr12:120347638-120347639	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs140354769	chr12:120347658-120347659	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549022224	chr12:120347672-120347673	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs4767858	chr12:120347677-120347678	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
12	rs142113388	chr12:120347702-120347703	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs151153983	chr12:120347782-120347783	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs370461903	chr12:120347785-120347786	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs571193775	chr12:120347808-120347809	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs77964347	chr12:120347825-120347826	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs10849709	chr12:120347838-120347839	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs573154197	chr12:120347842-120347843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs4767859	chr12:120347850-120347851	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs140078039	chr12:120347873-120347874	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs371070442	chr12:120347896-120347897	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs149857526	chr12:120347937-120347938	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371370166	chr12:120347987-120347988	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs146867978	chr12:120348009-120348010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs189886750	chr12:120348026-120348027	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs543020796	chr12:120348059-120348060	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs140668452	chr12:120348068-120348069	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540125599	chr12:120348086-120348087	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs181102844	chr12:120348143-120348144	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs186174107	chr12:120348145-120348146	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs548824796	chr12:120348211-120348212	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs562566238	chr12:120348236-120348237	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs531288980	chr12:120348251-120348252	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs551222074	chr12:120348259-120348260	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189849040	chr12:120348261-120348262	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs540148510	chr12:120348286-120348287	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182125849	chr12:120348287-120348288	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs186442398	chr12:120348288-120348289	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs560828725	chr12:120348300-120348301	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs367733841	chr12:120348324-120348325	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190849999	chr12:120348335-120348336	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs532105857	chr12:120348340-120348341	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575721687	chr12:120348348-120348349	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs371940565	chr12:120348349-120348350	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs537947012	chr12:120348368-120348369	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557571469	chr12:120348426-120348427	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs577376473	chr12:120348448-120348449	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs34086971	chr12:120348469-120348470	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs398021327	chr12:120348480-120348481	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs540137841	chr12:120348503-120348504	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	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
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120347400-120347600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:120347600-120352200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:120348600-120350600	Enhancers	Osteobl	bone
4	chr12:120349000-120350800	Enhancers	HSMM	muscle
5	chr12:120349200-120349600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:120349200-120349600	Enhancers	Hela-S3	cervix
7	chr12:120349400-120349600	Enhancers	NHDF-Ad	bronchial
8	chr12:120349400-120349800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:120349600-120350400	Weak transcription	NHDF-Ad	bronchial
10	chr12:120349600-120351200	Weak transcription	Hela-S3	cervix
11	chr12:120349600-120353800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:120349800-120351000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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