Variant report

Variant	esv3399132
Chromosome Location	chr2:190500157-190502155
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	chr2:190494740..190497603-chr2:190500641..190502959,2	K562	blood:
2	chr2:190344066..190347384-chr2:190497869..190500288,3	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556480126	chr2:190500189-190500190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540035532	chr2:190500214-190500215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561952711	chr2:190500242-190500243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187868191	chr2:190500251-190500252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545395873	chr2:190500362-190500363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147409577	chr2:190500374-190500375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572330102	chr2:190500413-190500414	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542660159	chr2:190500433-190500434	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192746074	chr2:190500434-190500435	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531702437	chr2:190500435-190500436	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139637396	chr2:190500514-190500515	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564947860	chr2:190500576-190500577	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113482103	chr2:190500591-190500592	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373330559	chr2:190500594-190500595	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529140922	chr2:190500620-190500621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574462259	chr2:190500621-190500622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77902013	chr2:190500634-190500635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34096020	chr2:190500692-190500693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566010978	chr2:190500749-190500750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145217377	chr2:190500808-190500809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544675880	chr2:190500824-190500825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569718892	chr2:190500838-190500839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184482828	chr2:190500856-190500857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377687958	chr2:190500911-190500912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs578100658	chr2:190500920-190500921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539250840	chr2:190500979-190500980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554168992	chr2:190500980-190500981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572448195	chr2:190500982-190500983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59039410	chr2:190500992-190500993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370995543	chr2:190500993-190500994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13399912	chr2:190501035-190501036	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs372214626	chr2:190501054-190501055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200122630	chr2:190501058-190501059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201272173	chr2:190501095-190501096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375504443	chr2:190501101-190501102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543535558	chr2:190501245-190501246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565405340	chr2:190501256-190501257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532203663	chr2:190501306-190501307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547609500	chr2:190501317-190501318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544515536	chr2:190501351-190501352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6434354	chr2:190501359-190501360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530016987	chr2:190501361-190501362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370665447	chr2:190501388-190501389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542247631	chr2:190501389-190501390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548177448	chr2:190501394-190501395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569686903	chr2:190501422-190501423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532964509	chr2:190501447-190501448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28526366	chr2:190501455-190501456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551966687	chr2:190501507-190501508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144306042	chr2:190501515-190501516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190479000-190503800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:190499400-190500400	Weak transcription	Fetal Intestine Small	intestine
3	chr2:190499800-190503400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:190500000-190500400	Enhancers	Duodenum Mucosa	Duodenum
5	chr2:190500000-190500800	Enhancers	Fetal Intestine Large	intestine
6	chr2:190500400-190500600	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr2:190500400-190500800	Enhancers	Fetal Intestine Small	intestine
8	chr2:190500600-190500800	Enhancers	Duodenum Mucosa	Duodenum
9	chr2:190500800-190503000	Weak transcription	Fetal Intestine Large	intestine
10	chr2:190500800-190503200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:190500800-190503200	Weak transcription	Fetal Intestine Small	intestine
12	chr2:190501800-190502000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr2:190502000-190506000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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