Variant report

Variant	rs17737553
Chromosome Location	chr2:211995085-211995086
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10174373	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10201265	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10804189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10932367	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11681093	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11694662	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12151374	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12612958	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618320	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12619728	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12622440	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009135	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1437372	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1437912	0.82[AMR][1000 genomes]
rs1437929	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1837054	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1837055	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2887949	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35259140	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35652091	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35885433	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36018701	0.83[AMR][1000 genomes]
rs62179762	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62179779	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6435600	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6726901	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6744625	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7421089	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7595005	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7608912	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012193	chr2:211684524-212072213	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv834521	chr2:211918881-212057872	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv875773	chr2:211973600-212041403	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv460063	chr2:211981894-211996803	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv584311	chr2:211981894-211996803	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3383196	chr2:211992907-211996105	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3392696	chr2:211993457-211995755	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211993400-211997000	Weak transcription	NHEK	skin
2	chr2:211993600-211996800	Weak transcription	HMEC	breast
3	chr2:211993600-211997400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:211994200-211995400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:211994600-211996400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:211994600-211998800	Enhancers	Hela-S3	cervix
7	chr2:211994800-211995200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:211994800-211995200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:211994800-211995200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:211994800-211995200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:211994800-211995200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:211995000-211995200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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