Variant report

Variant	esv3383270
Chromosome Location	chr2:189125707-189127605
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189127278..189129661-chr2:189156370..189159113,2	MCF-7	breast:
2	chr2:189124068..189125831-chr2:189156259..189158119,2	K562	blood:
3	chr2:189121043..189124005-chr2:189124856..189127176,2	K562	blood:
4	chr2:189116827..189120729-chr2:189123718..189126978,3	K562	blood:
5	chr2:189127077..189128792-chr2:189145398..189147368,2	K562	blood:
6	chr2:189125887..189128792-chr2:189144511..189146898,3	K562	blood:
7	chr2:189124068..189126314-chr2:189154943..189157759,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144366	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369223913	chr2:189125761-189125762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138996923	chr2:189125767-189125768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs55852512	chr2:189125787-189125788	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190009706	chr2:189125803-189125804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549218856	chr2:189125848-189125849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567706514	chr2:189125914-189125915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10188980	chr2:189125953-189125954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538078982	chr2:189126051-189126052	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149433153	chr2:189126111-189126112	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs139755689	chr2:189126123-189126124	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10189376	chr2:189126287-189126288	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539368956	chr2:189126295-189126296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554499828	chr2:189126305-189126306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181254487	chr2:189126307-189126308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs544261866	chr2:189126344-189126345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200436884	chr2:189126390-189126391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201140657	chr2:189126404-189126405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186031127	chr2:189126416-189126417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190882998	chr2:189126418-189126419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184030520	chr2:189126423-189126424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542566213	chr2:189126436-189126437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560821432	chr2:189126485-189126486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369889054	chr2:189126504-189126505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545764052	chr2:189126511-189126512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576055746	chr2:189126514-189126515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34992886	chr2:189126529-189126530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541040318	chr2:189126554-189126555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60300479	chr2:189126577-189126578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28795990	chr2:189126579-189126580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58256803	chr2:189126585-189126586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28801439	chr2:189126586-189126587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112883407	chr2:189126589-189126590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60634848	chr2:189126592-189126593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28789094	chr2:189126593-189126594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375025915	chr2:189126597-189126598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370416423	chr2:189126598-189126599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71020739	chr2:189126600-189126601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28889572	chr2:189126602-189126603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111693814	chr2:189126603-189126604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112392615	chr2:189126610-189126611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542000835	chr2:189126620-189126621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543138363	chr2:189126665-189126666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374981409	chr2:189126750-189126751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532174915	chr2:189126802-189126803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547328068	chr2:189126821-189126822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75750259	chr2:189126919-189126920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34253555	chr2:189126922-189126923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs144814205	chr2:189126952-189126953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79244520	chr2:189126953-189126954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116783803	chr2:189126983-189126984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189121600-189128600	Weak transcription	Aorta	Aorta
2	chr2:189121800-189147800	Weak transcription	K562	blood

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