Variant report

Variant	rs10798636
Chromosome Location	chr1:171743865-171743866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171742868..171745559-chr1:171748625..171751508,3	MCF-7	breast:
2	chr1:171738743..171740462-chr1:171742324..171745005,2	K562	blood:
3	chr1:171710019..171713750-chr1:171741617..171744862,3	K562	blood:
4	chr1:171742778..171746827-chr1:171748449..171752347,7	K562	blood:

Variant related genes	Relation type
ENSG00000010165	Chromatin interaction
ENSG00000117533	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10798634	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10913644	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11587288	0.84[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs12028128	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12032340	1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12034454	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12039034	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12566700	0.87[CHB][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.83[MEX][hapmap];0.85[ASN][1000 genomes]
rs16843385	0.82[EUR][1000 genomes]
rs2232812	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2232816	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2232818	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2232826	0.95[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2294717	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3753538	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56178029	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59302445	0.86[EUR][1000 genomes]
rs60502293	0.84[EUR][1000 genomes]
rs60956160	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425405	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6425423	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs6425438	0.85[GIH][hapmap]
rs6684594	0.88[EUR][1000 genomes]
rs6692136	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6695502	0.84[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs7541192	0.87[EUR][1000 genomes]
rs7542116	1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7543608	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7548462	0.87[EUR][1000 genomes]
rs7551037	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7860	0.95[CEU][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs909958	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs941942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv872545	chr1:171735198-171805448	Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs10798636	KIAA0859	Cis_1M	lymphoblastoid	RTeQTL
rs10798636	DUSP27	cis	cerebellum	SCAN
rs10798636	VAMP4	cis	parietal	SCAN
rs10798636	BAT2L2	cis	parietal	SCAN
rs10798636	MAEL	cis	parietal	SCAN
rs10798636	METTL13	cis	parietal	SCAN
rs10798636	DCAF6	cis	cerebellum	SCAN
rs10798636	DNM3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171739400-171744400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:171740000-171749800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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