Variant report

Variant	esv3441208
Chromosome Location	chr12:119041969-119046367
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:119035847..119037394-chr12:119041054..119043149,2	K562	blood:

Extended variants
information (count: 153 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148991712	chr12:119041992-119041993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540450544	chr12:119041993-119041994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs193189294	chr12:119042005-119042006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182897770	chr12:119042038-119042039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550676380	chr12:119042081-119042082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78889315	chr12:119042083-119042084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560748579	chr12:119042087-119042088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529305303	chr12:119042148-119042149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539838640	chr12:119042170-119042171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187191898	chr12:119042203-119042204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191253756	chr12:119042206-119042207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554154702	chr12:119042251-119042252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566978052	chr12:119042260-119042261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10850996	chr12:119042261-119042262	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527992223	chr12:119042282-119042283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142864239	chr12:119042307-119042308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151071349	chr12:119042308-119042309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372788114	chr12:119042342-119042343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536896034	chr12:119042371-119042372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556275359	chr12:119042394-119042395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111505035	chr12:119042432-119042433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs55883924	chr12:119042433-119042434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs558543004	chr12:119042452-119042453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs56345501	chr12:119042500-119042501	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs183492643	chr12:119042544-119042545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146306791	chr12:119042546-119042547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377200493	chr12:119042615-119042616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139045053	chr12:119042633-119042634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191017075	chr12:119042637-119042638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575810598	chr12:119042710-119042711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577480717	chr12:119042714-119042715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34935518	chr12:119042744-119042745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188175252	chr12:119042770-119042771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111285267	chr12:119042779-119042780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141387216	chr12:119042808-119042809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193029515	chr12:119042813-119042814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73411700	chr12:119042814-119042815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs548108950	chr12:119042834-119042835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567989971	chr12:119042840-119042841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185815859	chr12:119042890-119042891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550366074	chr12:119042968-119042969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569620046	chr12:119042988-119042989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189892377	chr12:119043048-119043049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74309689	chr12:119043068-119043069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs398076997	chr12:119043075-119043076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182167486	chr12:119043208-119043209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565658521	chr12:119043227-119043228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150387936	chr12:119043289-119043290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554421215	chr12:119043301-119043302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185668183	chr12:119043315-119043316	Weak transcription	n/a	n/a	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	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	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
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119040800-119042600	Enhancers	HepG2	liver
2	chr12:119041200-119042000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:119041200-119042200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:119041200-119042800	Enhancers	Pancreas	Pancrea
5	chr12:119041600-119042000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:119041600-119042200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:119041800-119046400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:119042200-119047600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:119042800-119048600	Weak transcription	Pancreas	Pancrea
10	chr12:119043400-119044800	Enhancers	Fetal Brain Male	brain
11	chr12:119044200-119044600	Enhancers	Colon Smooth Muscle	Colon
12	chr12:119044800-119049200	Weak transcription	Fetal Brain Male	brain
13	chr12:119045600-119048000	Weak transcription	H9 Cell Line	embryonic stem cell

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