Variant report

Variant	rs62182415
Chromosome Location	chr2:189984177-189984178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10497699	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10931402	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931406	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931410	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11675295	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676812	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11678388	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11681937	0.87[ASN][1000 genomes]
rs11684417	0.87[ASN][1000 genomes]
rs11684869	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687908	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11690774	0.89[EUR][1000 genomes]
rs11693810	0.87[ASN][1000 genomes]
rs11695837	0.83[EUR][1000 genomes]
rs12472232	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1515873	0.82[ASN][1000 genomes]
rs1515875	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1519185	0.87[ASN][1000 genomes]
rs1520862	0.87[ASN][1000 genomes]
rs17198773	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198780	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17198787	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17198815	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17198829	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270952	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17270966	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17270973	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17270987	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17271008	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17271015	0.87[ASN][1000 genomes]
rs1996576	0.87[ASN][1000 genomes]
rs2683013	0.87[ASN][1000 genomes]
rs2683014	0.87[ASN][1000 genomes]
rs35598715	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55726777	0.84[ASN][1000 genomes]
rs55851872	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56252219	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56381644	0.81[ASN][1000 genomes]
rs59031473	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61130121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61528955	0.87[ASN][1000 genomes]
rs62182060	0.87[ASN][1000 genomes]
rs62182061	0.87[ASN][1000 genomes]
rs62182066	0.87[ASN][1000 genomes]
rs62182068	0.87[ASN][1000 genomes]
rs62182420	0.82[EUR][1000 genomes]
rs62182421	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182454	0.89[ASN][1000 genomes]
rs62182457	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62182458	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62182459	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62183794	1.00[ASN][1000 genomes]
rs62183841	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183844	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183845	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62183846	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62183847	0.80[EUR][1000 genomes]
rs62183848	0.87[ASN][1000 genomes]
rs72908368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72908382	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72910347	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72910360	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72912280	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72912286	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72914135	0.82[ASN][1000 genomes]
rs7564429	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7586853	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189962400-189995200	Weak transcription	Aorta	Aorta
2	chr2:189968600-190012000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:189974800-190007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:189975200-189988600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:189975400-189988600	Weak transcription	HUVEC	blood vessel
6	chr2:189976000-189986800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:189979200-189984200	Enhancers	A549	lung
8	chr2:189981000-189993400	Weak transcription	Ovary	ovary
9	chr2:189981200-189992800	Weak transcription	NH-A	brain
10	chr2:189981200-189998000	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:189981400-189986000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:189981400-189989800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:189981400-189991800	Weak transcription	HSMMtube	muscle
14	chr2:189981400-189992800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:189981400-190014800	Weak transcription	Fetal Stomach	stomach
16	chr2:189981800-189987400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:189982200-189984400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:189982200-189985200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:189982400-189985000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:189982400-190005800	Weak transcription	Fetal Kidney	kidney
21	chr2:189982600-189985000	Weak transcription	Fetal Lung	lung
22	chr2:189982600-189985000	Weak transcription	HSMM	muscle
23	chr2:189982600-189988600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:189982600-189992600	Weak transcription	NHLF	lung
25	chr2:189983400-189984200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:189983400-189992000	Weak transcription	Adipose Nuclei	Adipose
27	chr2:189983600-189987200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:189983800-189984200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:189983800-189985000	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:189983800-189985600	Enhancers	Rectal Smooth Muscle	rectum
31	chr2:189983800-189987400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:189984000-189984200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:189984000-189985400	Weak transcription	Osteobl	bone
34	chr2:189984000-189985800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:189984000-189986400	Weak transcription	NHDF-Ad	bronchial
36	chr2:189984000-190016800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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