Variant report

Variant	rs13037649
Chromosome Location	chr20:22726202-22726203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22725796..22727979-chr20:22752772..22755655,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1072709	0.81[EUR][1000 genomes]
rs1072710	0.81[EUR][1000 genomes]
rs11087395	0.87[EUR][1000 genomes]
rs11907108	0.86[EUR][1000 genomes]
rs12479587	0.87[EUR][1000 genomes]
rs12480993	0.81[EUR][1000 genomes]
rs12481000	0.81[EUR][1000 genomes]
rs12481542	0.81[EUR][1000 genomes]
rs13036614	0.90[EUR][1000 genomes]
rs13036740	0.90[EUR][1000 genomes]
rs13036763	0.81[EUR][1000 genomes]
rs13037107	0.81[EUR][1000 genomes]
rs13037452	0.81[EUR][1000 genomes]
rs13037517	0.81[EUR][1000 genomes]
rs13037670	0.81[EUR][1000 genomes]
rs13037911	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs13037976	0.89[EUR][1000 genomes]
rs13038194	0.81[EUR][1000 genomes]
rs13038208	0.81[EUR][1000 genomes]
rs13038520	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs13039411	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs13039474	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs13040066	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13040538	0.86[EUR][1000 genomes]
rs13040962	0.82[CEU][hapmap]
rs13043823	0.81[EUR][1000 genomes]
rs13044931	0.83[EUR][1000 genomes]
rs1983920	0.81[EUR][1000 genomes]
rs1983921	0.81[EUR][1000 genomes]
rs1983922	0.82[EUR][1000 genomes]
rs1983923	0.82[EUR][1000 genomes]
rs1983924	0.82[EUR][1000 genomes]
rs2404489	0.81[EUR][1000 genomes]
rs4371419	0.87[EUR][1000 genomes]
rs4514951	0.87[EUR][1000 genomes]
rs4603850	0.87[EUR][1000 genomes]
rs6036197	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs6036200	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6036203	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036204	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036205	0.90[EUR][1000 genomes]
rs6036206	0.90[EUR][1000 genomes]
rs6036212	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6036213	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048280	0.83[ASN][1000 genomes]
rs6048283	0.86[ASN][1000 genomes]
rs6048284	0.87[ASN][1000 genomes]
rs6048300	0.89[TSI][hapmap]
rs6048302	0.92[TSI][hapmap]
rs6048326	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6048327	0.89[EUR][1000 genomes]
rs6048328	0.84[EUR][1000 genomes]
rs6048331	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048332	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048333	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6075943	0.90[EUR][1000 genomes]
rs62203753	0.82[EUR][1000 genomes]
rs7262725	0.86[CEU][hapmap];0.97[TSI][hapmap];0.87[EUR][1000 genomes]
rs7264150	0.81[EUR][1000 genomes]
rs7265907	0.81[EUR][1000 genomes]
rs7266066	0.81[EUR][1000 genomes]
rs7270014	0.81[EUR][1000 genomes]
rs7270196	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs7270365	0.87[EUR][1000 genomes]
rs7270374	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8119621	0.81[EUR][1000 genomes]
rs965762	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs965763	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061382	chr20:22706041-22763200	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1057305	chr20:22711334-22733613	ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv544213	chr20:22722740-22791150	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13037649	GGTLC1	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22723600-22726800	Enhancers	NHEK	skin
2	chr20:22726000-22739000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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