Variant report

Variant	rs17319680
Chromosome Location	chr2:124947131-124947132
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:124946899..124949400-chr2:124951253..124953326,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10496631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496633	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs11675400	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11677559	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs11677801	1.00[ASN][1000 genomes]
rs11678185	1.00[ASN][1000 genomes]
rs11680010	1.00[ASN][1000 genomes]
rs11680902	1.00[ASN][1000 genomes]
rs11686392	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11689672	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11693472	1.00[ASN][1000 genomes]
rs11693557	1.00[ASN][1000 genomes]
rs11694708	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1213971	1.00[CHB][hapmap]
rs1358669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1430251	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1430268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1439131	1.00[CHB][hapmap]
rs1439140	0.89[CEU][hapmap]
rs1529296	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17209500	1.00[ASN][1000 genomes]
rs17211596	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17211765	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17212475	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17213071	1.00[CHB][hapmap]
rs17213092	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17213203	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17269066	1.00[ASN][1000 genomes]
rs17269122	1.00[ASN][1000 genomes]
rs17270902	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17279088	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs17319464	1.00[CHB][hapmap]
rs17319771	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17319827	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs17665763	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17665782	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17666092	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17666152	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17666488	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17667754	1.00[AFR][1000 genomes]
rs17673411	1.00[AFR][1000 genomes]
rs17722007	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17722506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17722749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2420554	0.91[CEU][hapmap];1.00[CHB][hapmap]
rs2901195	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs4563225	1.00[CHB][hapmap]
rs62171029	1.00[ASN][1000 genomes]
rs73954526	1.00[ASN][1000 genomes]
rs73954528	1.00[ASN][1000 genomes]
rs779988	1.00[ASN][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	nsv531408	chr2:124727329-125011247	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv874989	chr2:124892592-125176030	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:124938600-124954400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:124942800-124947200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:124947000-124947600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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