Variant report

Variant	rs62181352
Chromosome Location	chr2:172224665-172224666
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10445722	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10515933	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12151641	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1558936	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17220419	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17220440	0.85[AFR][1000 genomes]
rs17220608	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17220657	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17220699	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17220734	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17221367	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17221402	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17286415	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17286660	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1981788	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2356781	0.81[AMR][1000 genomes]
rs36112363	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3731981	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3731983	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs3731985	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs3795998	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3821084	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4417688	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4458186	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4496302	0.81[AMR][1000 genomes]
rs4522571	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4668385	0.81[AMR][1000 genomes]
rs4668386	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs4668387	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56410960	0.82[AFR][1000 genomes]
rs57099324	0.82[AMR][1000 genomes]
rs60439518	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs62183467	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62183468	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62183470	0.82[AFR][1000 genomes]
rs62183471	0.82[AFR][1000 genomes]
rs62183472	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62183492	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62183493	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62183494	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62183495	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62183497	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62183499	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62183502	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs62183503	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62183506	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62183507	0.82[AFR][1000 genomes]
rs62183539	0.87[AFR][1000 genomes]
rs6433290	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6433292	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6713612	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6720250	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6740733	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6741806	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7562674	0.87[AFR][1000 genomes]
rs7568037	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7576894	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7595226	0.81[AFR][1000 genomes]
rs7598137	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9678149	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9678164	0.85[AMR][1000 genomes]
rs9679537	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9789572	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9789596	0.87[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1003130	chr2:172189196-172237268	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172211000-172242600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172212400-172231400	Weak transcription	Esophagus	oesophagus
3	chr2:172214200-172226000	Weak transcription	Left Ventricle	heart
4	chr2:172214800-172231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:172215400-172231800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:172215800-172231000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:172216400-172231400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:172217000-172224800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:172217200-172225000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:172217200-172231400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:172221800-172225000	ZNF genes & repeats	GM12878-XiMat	blood
12	chr2:172222200-172289600	Weak transcription	Gastric	stomach
13	chr2:172222400-172240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:172222800-172230400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:172223000-172235400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:172223000-172242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:172224200-172228000	Weak transcription	Right Atrium	heart

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