Variant report

Variant	esv3495864
Chromosome Location	chr2:187633495-187686087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:187626591..187628970-chr2:187631316..187633889,2	K562	blood:
2	chr2:187557380..187558959-chr2:187635555..187637431,3	MCF-7	breast:
3	chr2:187350757..187352430-chr2:187643644..187645920,2	MCF-7	breast:
4	chr2:187506264..187507025-chr2:187645437..187646104,3	MCF-7	breast:
5	chr2:187627243..187630051-chr2:187634032..187636877,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000065548	chromatin interactions
ENSG00000144369	chromatin interactions

Extended variants
information (count: 1104 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:1104 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546029141	chr2:187633521-187633522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577379891	chr2:187633562-187633563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372277568	chr2:187633606-187633607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116456218	chr2:187633613-187633614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149256768	chr2:187633658-187633659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2595383	chr2:187633691-187633692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs2595384	chr2:187633716-187633717	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs188117035	chr2:187633717-187633718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373901066	chr2:187633774-187633775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72907042	chr2:187633783-187633784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533472727	chr2:187633788-187633789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115708116	chr2:187633908-187633909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180839738	chr2:187633940-187633941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186264230	chr2:187633965-187633966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546910033	chr2:187633969-187633970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567994731	chr2:187634008-187634009	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs535126452	chr2:187634087-187634088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550151971	chr2:187634102-187634103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554946199	chr2:187634151-187634152	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs2595385	chr2:187634155-187634156	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs144596960	chr2:187634215-187634216	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148491347	chr2:187634240-187634241	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573418183	chr2:187634290-187634291	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2682876	chr2:187634314-187634315	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs191901420	chr2:187634345-187634346	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573260397	chr2:187634358-187634359	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114752768	chr2:187634360-187634361	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184190558	chr2:187634398-187634399	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368025883	chr2:187634436-187634437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578048243	chr2:187634442-187634443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371267585	chr2:187634449-187634450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186617869	chr2:187634490-187634491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190595150	chr2:187634505-187634506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546476975	chr2:187634506-187634507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200981673	chr2:187634563-187634564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144603752	chr2:187634564-187634565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369942132	chr2:187634606-187634607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529161761	chr2:187634638-187634639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73035684	chr2:187634647-187634648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs182378421	chr2:187634648-187634649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539047211	chr2:187634688-187634689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551481036	chr2:187634744-187634745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147186106	chr2:187634767-187634768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2595386	chr2:187634784-187634785	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs557852236	chr2:187634837-187634838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574236231	chr2:187634862-187634863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3114941	chr2:187634877-187634878	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556859029	chr2:187634878-187634879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563211337	chr2:187634883-187634884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577998817	chr2:187634913-187634914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187612000-187636200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:187613800-187634000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:187622600-187636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:187623000-187636200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:187627200-187636800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:187627600-187634000	Weak transcription	Placenta	Placenta
7	chr2:187627600-187635200	Weak transcription	Brain Substantia Nigra	brain
8	chr2:187628000-187635200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:187634000-187634400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:187634000-187634400	ZNF genes & repeats	Placenta	Placenta
11	chr2:187634200-187635000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:187634400-187636000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:187635000-187635600	Weak transcription	Placenta	Placenta
14	chr2:187635000-187636200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:187635000-187636800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:187636000-187637200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr2:187636000-187637200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:187636200-187636800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:187636200-187637000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:187636200-187637000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:187636200-187637000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr2:187636200-187637600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:187636200-187637600	Enhancers	Placenta	Placenta
24	chr2:187636400-187636600	Enhancers	NHEK	skin
25	chr2:187636400-187637000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:187636400-187637400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:187636400-187637400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:187636600-187637400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:187636800-187637200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:187636800-187637200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr2:187636800-187637200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:187637600-187643800	Weak transcription	Placenta	Placenta
33	chr2:187643800-187644200	Enhancers	Placenta	Placenta
34	chr2:187644200-187645600	Weak transcription	Placenta	Placenta
35	chr2:187645600-187645800	Enhancers	Placenta	Placenta
36	chr2:187647800-187648800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:187657600-187657800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:187666600-187667400	Enhancers	Colon Smooth Muscle	Colon
39	chr2:187669200-187669400	Enhancers	Fetal Heart	heart
40	chr2:187669400-187669600	Flanking Active TSS	Fetal Heart	heart
41	chr2:187669600-187669800	Enhancers	Fetal Heart	heart
42	chr2:187669800-187670000	Flanking Active TSS	Fetal Heart	heart
43	chr2:187669800-187670600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:187670000-187672200	Enhancers	Fetal Heart	heart
45	chr2:187670200-187671000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:187670400-187670600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:187671600-187672000	Enhancers	NHDF-Ad	bronchial
48	chr2:187672200-187672600	Enhancers	Placenta	Placenta
49	chr2:187674200-187674400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:187674200-187674800	Enhancers	H9 Cell Line	embryonic stem cell

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