Variant report

Variant	nsv961743
Chromosome Location	chr2:187148271-187159618
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	chr2:187144221..187146013-chr2:187148146..187151029,2	K562	blood:

Extended variants
information (count: 350 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:350 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562944942	chr2:187148283-187148284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191906330	chr2:187148363-187148364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73035248	chr2:187148369-187148370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs140610280	chr2:187148386-187148387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528384112	chr2:187148390-187148391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546531260	chr2:187148409-187148410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544816661	chr2:187148416-187148417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181964603	chr2:187148417-187148418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535038214	chr2:187148420-187148421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145698798	chr2:187148459-187148460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371823872	chr2:187148470-187148471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558386249	chr2:187148493-187148494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539191143	chr2:187148520-187148521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4130802	chr2:187148535-187148536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553317824	chr2:187148545-187148546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4130801	chr2:187148555-187148556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs573402116	chr2:187148576-187148577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539356954	chr2:187148612-187148613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557660841	chr2:187148676-187148677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76483655	chr2:187148686-187148687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80351628	chr2:187148688-187148689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146144221	chr2:187148714-187148715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368652481	chr2:187148784-187148785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534495130	chr2:187148798-187148799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539811982	chr2:187148828-187148829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556051419	chr2:187148870-187148871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574410127	chr2:187148874-187148875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544585294	chr2:187148908-187148909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185736511	chr2:187148972-187148973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578033682	chr2:187149011-187149012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545218994	chr2:187149021-187149022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111311994	chr2:187149055-187149056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564297726	chr2:187149066-187149067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528231980	chr2:187149103-187149104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6734080	chr2:187149142-187149143	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs138182088	chr2:187149228-187149229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529165959	chr2:187149271-187149272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540618573	chr2:187149392-187149393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190544070	chr2:187149403-187149404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370978085	chr2:187149412-187149413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141846623	chr2:187149413-187149414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182382805	chr2:187149426-187149427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150684988	chr2:187149442-187149443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551225095	chr2:187149443-187149444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566568097	chr2:187149510-187149511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186346591	chr2:187149549-187149550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556014353	chr2:187149584-187149585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567946855	chr2:187149593-187149594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555917316	chr2:187149633-187149634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538567558	chr2:187149700-187149701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187147800-187167600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:187152200-187153200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:187152400-187153000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:187159000-187159400	Enhancers	Psoas Muscle	Psoas
5	chr2:187159000-187159600	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:187159000-187159600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:187159000-187160000	Enhancers	Left Ventricle	heart
8	chr2:187159000-187161400	Enhancers	Fetal Heart	heart

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