Variant report

Variant	rs1694594
Chromosome Location	chr1:220112428-220112429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220103246..220105945-chr1:220110785..220113591,2	K562	blood:
2	chr1:220100326..220104746-chr1:220111902..220114104,3	K562	blood:
3	chr1:220085242..220088040-chr1:220110503..220113336,2	K562	blood:
4	chr1:220054185..220056883-chr1:220111054..220113259,2	K562	blood:

Variant related genes	Relation type
ENSG00000196660	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10495140	0.89[MKK][hapmap]
rs10863510	0.85[AMR][1000 genomes]
rs11118467	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1694592	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1694593	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1694595	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1776029	0.85[AMR][1000 genomes]
rs1776030	0.92[EUR][1000 genomes]
rs1776043	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1776046	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1776050	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1776052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1890295	0.89[MKK][hapmap]
rs2275706	1.00[JPT][hapmap]
rs2275707	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2378331	0.94[CEU][hapmap];0.87[CHD][hapmap];0.81[GIH][hapmap];0.81[JPT][hapmap]
rs2647439	0.88[EUR][1000 genomes]
rs2647462	0.80[GIH][hapmap]
rs2789794	0.83[TSI][hapmap]
rs6541114	0.85[AMR][1000 genomes]
rs6663638	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6663745	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7525274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs947517	0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006393	chr1:219925261-220126458	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1694594	SLC30A10	cis	Liver	GTEx
rs1694594	SLC30A10	trans	multi-tissue	Pritchard

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220105600-220113800	Weak transcription	Fetal Intestine Large	intestine
2	chr1:220111000-220112800	Enhancers	K562	blood
3	chr1:220111400-220113000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:220111800-220112600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:220112000-220112800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:220112000-220112800	Enhancers	Hela-S3	cervix
7	chr1:220112000-220113400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:220112000-220114400	Enhancers	Liver	Liver
9	chr1:220112400-220112600	Enhancers	Fetal Intestine Small	intestine

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