Variant report

Variant	esv3440199
Chromosome Location	chr21:18344306-18346854
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	chr21:18346274..18348529-chr21:18641207..18644043,2	K562	blood:

Extended variants
information (count: 172 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:172 , 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	rs188158672	chr21:18344317-18344318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537383244	chr21:18344333-18344334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202095216	chr21:18344340-18344341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538243358	chr21:18344341-18344342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376591837	chr21:18344342-18344343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368671875	chr21:18344351-18344352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373967339	chr21:18344367-18344368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62652615	chr21:18344376-18344377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376813008	chr21:18344377-18344378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369874553	chr21:18344403-18344404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543240626	chr21:18344415-18344416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141634053	chr21:18344420-18344421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562434831	chr21:18344425-18344426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191429308	chr21:18344446-18344447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182804922	chr21:18344454-18344455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531469727	chr21:18344472-18344473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544656061	chr21:18344491-18344492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188723803	chr21:18344493-18344494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192848110	chr21:18344498-18344499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564511477	chr21:18344502-18344503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553095996	chr21:18344506-18344507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572479304	chr21:18344518-18344519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527304434	chr21:18344524-18344525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375357487	chr21:18344532-18344533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184805377	chr21:18344558-18344559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187706264	chr21:18344576-18344577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529460721	chr21:18344600-18344601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191450413	chr21:18344601-18344602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183617716	chr21:18344622-18344623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538311471	chr21:18344642-18344643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188997668	chr21:18344680-18344681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571629282	chr21:18344756-18344757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373207113	chr21:18344769-18344770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554105541	chr21:18344770-18344771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201208432	chr21:18344771-18344772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377283474	chr21:18344773-18344774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371126830	chr21:18344775-18344776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370883602	chr21:18344779-18344780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373298184	chr21:18344787-18344788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529408333	chr21:18344790-18344791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542442002	chr21:18344801-18344802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192936340	chr21:18344802-18344803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375820868	chr21:18344803-18344804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184627477	chr21:18344817-18344818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190336999	chr21:18344820-18344821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181542941	chr21:18344835-18344836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186556654	chr21:18344839-18344840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189450351	chr21:18344841-18344842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370125655	chr21:18344853-18344854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564645940	chr21:18344854-18344855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	19651600	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:18341200-18348600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr21:18346800-18347200	Enhancers	Colon Smooth Muscle	Colon

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