Variant report

Variant	esv3396561
Chromosome Location	chr22:31413377-31415925
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	chr22:31413340..31416231-chr22:31418212..31420315,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199996961	chr22:31413444-31413445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4820925	chr22:31413480-31413481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs191941573	chr22:31413526-31413527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117684023	chr22:31413545-31413546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183748984	chr22:31413546-31413547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148142529	chr22:31413568-31413569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145255966	chr22:31413591-31413592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs5753426	chr22:31413639-31413640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563624735	chr22:31413738-31413739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532778845	chr22:31413795-31413796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546037821	chr22:31413804-31413805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559997034	chr22:31413845-31413846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528731452	chr22:31413853-31413854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547003190	chr22:31413880-31413881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566957823	chr22:31413904-31413905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9609188	chr22:31413966-31413967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs186642093	chr22:31413994-31413995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192722239	chr22:31414036-31414037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185452782	chr22:31414039-31414040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558440755	chr22:31414076-31414077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs377439911	chr22:31414077-31414078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4820926	chr22:31414089-31414090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs534952780	chr22:31414092-31414093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs554884686	chr22:31414094-31414095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201023447	chr22:31414110-31414111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190704533	chr22:31414119-31414120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543439956	chr22:31414174-31414175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557434264	chr22:31414188-31414189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577218582	chr22:31414198-31414199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142246211	chr22:31414199-31414200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559485944	chr22:31414215-31414216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147764509	chr22:31414222-31414223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573084919	chr22:31414316-31414317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542144826	chr22:31414332-31414333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181640484	chr22:31414412-31414413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs202236209	chr22:31414444-31414445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370003456	chr22:31414446-31414447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201084515	chr22:31414447-31414448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1859916	chr22:31414448-31414449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57581226	chr22:31414450-31414451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529650937	chr22:31414466-31414467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs8137287	chr22:31414468-31414469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377231264	chr22:31414470-31414471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565640294	chr22:31414487-31414488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2413006	chr22:31414488-31414489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2413007	chr22:31414490-31414491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202051648	chr22:31414494-31414495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372429148	chr22:31414507-31414508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200238450	chr22:31414525-31414526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369032465	chr22:31414530-31414531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20858604	CNVD
Breast cancer	22522925	CNVD
Breast cancer	17142309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31413000-31413400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:31413400-31415000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr22:31415000-31416000	Enhancers	Esophagus	oesophagus
4	chr22:31415000-31416600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:31415000-31416600	Enhancers	Placenta	Placenta
6	chr22:31415200-31417200	Enhancers	HepG2	liver
7	chr22:31415600-31415800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr22:31415600-31416600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links