Variant report

Variant	rs62188287
Chromosome Location	chr2:183310038-183310039
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10207132	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10497598	0.82[ASN][1000 genomes]
rs10497600	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10497601	0.91[AFR][1000 genomes]
rs10497603	0.82[AFR][1000 genomes]
rs1125184	0.87[AFR][1000 genomes]
rs11686025	0.81[EUR][1000 genomes]
rs12465662	0.84[AFR][1000 genomes]
rs12465755	0.84[AFR][1000 genomes]
rs12466618	0.82[AFR][1000 genomes]
rs12466937	0.84[AFR][1000 genomes]
rs12468232	0.82[AFR][1000 genomes]
rs12468346	0.82[AFR][1000 genomes]
rs12470124	0.84[AFR][1000 genomes]
rs12473820	0.87[AFR][1000 genomes]
rs12474820	0.82[AFR][1000 genomes]
rs12475048	0.82[AFR][1000 genomes]
rs12478132	0.82[AFR][1000 genomes]
rs13407156	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1346775	0.82[AFR][1000 genomes]
rs1367203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1367204	0.84[AFR][1000 genomes]
rs1430147	0.81[ASN][1000 genomes]
rs1430148	0.81[ASN][1000 genomes]
rs1430160	0.84[AFR][1000 genomes]
rs1583114	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16823233	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16823254	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16823257	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17265027	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17265041	0.80[EUR][1000 genomes]
rs17265061	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17265189	0.82[AFR][1000 genomes]
rs17356152	0.81[EUR][1000 genomes]
rs17356166	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17356207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17356214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17356296	0.82[AFR][1000 genomes]
rs17356303	0.82[AFR][1000 genomes]
rs28569979	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34103461	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34744930	0.84[AFR][1000 genomes]
rs35809203	0.87[AFR][1000 genomes]
rs4318355	0.86[AFR][1000 genomes]
rs4666582	0.84[AFR][1000 genomes]
rs4666585	0.84[AFR][1000 genomes]
rs62188260	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62188264	0.80[EUR][1000 genomes]
rs62188266	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62188267	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62188268	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62188269	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62188270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62188283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62188284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62188286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62188288	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62188289	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62188290	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62188294	0.81[AFR][1000 genomes]
rs62188295	0.87[AFR][1000 genomes]
rs62189024	0.84[AFR][1000 genomes]
rs62189025	0.84[AFR][1000 genomes]
rs62189027	0.84[AFR][1000 genomes]
rs62190201	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62190676	0.82[AFR][1000 genomes]
rs62190679	0.82[AFR][1000 genomes]
rs62190680	0.82[AFR][1000 genomes]
rs62190681	0.82[AFR][1000 genomes]
rs6760364	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv834481	chr2:183189758-183339577	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183298800-183320800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:183308400-183311000	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:183308400-183312000	Weak transcription	Left Ventricle	heart
4	chr2:183308800-183310600	Enhancers	HSMMtube	muscle
5	chr2:183309000-183311400	Enhancers	HSMM	muscle
6	chr2:183309200-183311200	Enhancers	Hela-S3	cervix
7	chr2:183309200-183311400	Enhancers	Osteobl	bone
8	chr2:183309200-183313800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:183309600-183310400	Active TSS	Aorta	Aorta
10	chr2:183309600-183310800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:183309600-183311400	Enhancers	Fetal Heart	heart
12	chr2:183309800-183310200	Enhancers	NHDF-Ad	bronchial
13	chr2:183309800-183310400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr2:183309800-183310400	Enhancers	HUVEC	blood vessel
15	chr2:183309800-183310800	Enhancers	NHLF	lung
16	chr2:183309800-183311000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:183309800-183313800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:183310000-183310600	Weak transcription	Fetal Brain Female	brain
19	chr2:183310000-183310600	Enhancers	Fetal Lung	lung

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