Variant report

Variant	nsv521985
Chromosome Location	chr12:119537403-119539388
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12317992	chr12:119537403-119537404	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531813235	chr12:119537457-119537458	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370808653	chr12:119537476-119537477	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116860611	chr12:119537490-119537491	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571026946	chr12:119537503-119537504	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533676090	chr12:119537560-119537561	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528334344	chr12:119537599-119537600	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188502868	chr12:119537616-119537617	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566970435	chr12:119537652-119537653	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536238525	chr12:119537683-119537684	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78012629	chr12:119537769-119537770	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181273541	chr12:119537770-119537771	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538468776	chr12:119537791-119537792	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149792938	chr12:119537798-119537799	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79269679	chr12:119537834-119537835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540775206	chr12:119537853-119537854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560559132	chr12:119537923-119537924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145780178	chr12:119538043-119538044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542960747	chr12:119538061-119538062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139998587	chr12:119538115-119538116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554829901	chr12:119538132-119538133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34887621	chr12:119538133-119538134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60626244	chr12:119538148-119538149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531999367	chr12:119538193-119538194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4767778	chr12:119538291-119538292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs550298668	chr12:119538294-119538295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10656877	chr12:119538295-119538296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75530545	chr12:119538369-119538370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527876404	chr12:119538379-119538380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567014396	chr12:119538423-119538424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35160844	chr12:119538424-119538425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186253225	chr12:119538467-119538468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61938016	chr12:119538526-119538527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145335916	chr12:119538527-119538528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535875705	chr12:119538655-119538656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73213719	chr12:119538700-119538701	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs78685613	chr12:119538716-119538717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538950583	chr12:119538721-119538722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147668904	chr12:119538731-119538732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572309016	chr12:119538748-119538749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142233492	chr12:119538752-119538753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370081247	chr12:119538764-119538765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574050197	chr12:119538765-119538766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs61938017	chr12:119538784-119538785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73213720	chr12:119538815-119538816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs143208710	chr12:119538832-119538833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151189203	chr12:119538835-119538836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565229766	chr12:119538856-119538857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs527890741	chr12:119538887-119538888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182489006	chr12:119538925-119538926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
low-grade B-cell lymphoma tumor	18367492	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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119535200-119568800	Weak transcription	Fetal Brain Male	brain
2	chr12:119535400-119539000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:119535600-119538000	Strong transcription	Fetal Brain Female	brain
4	chr12:119537400-119537800	ZNF genes & repeats	Brain Germinal Matrix	brain
5	chr12:119537800-119540000	Weak transcription	Brain Germinal Matrix	brain
6	chr12:119538000-119544600	Weak transcription	Fetal Brain Female	brain
7	chr12:119538400-119539200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:119539000-119539400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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