Variant report

Variant	rs10489248
Chromosome Location	chr1:171645589-171645590
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	chr1:171640488..171642353-chr1:171643288..171645992,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1001373	0.86[CHD][hapmap]
rs10157798	0.83[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10913408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10913455	1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[ASN][1000 genomes]
rs10913456	0.94[ASN][1000 genomes]
rs10913457	0.94[ASN][1000 genomes]
rs10913458	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913529	0.86[CHD][hapmap]
rs11576221	0.86[CHD][hapmap]
rs11799938	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs11799961	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs11800109	0.90[ASN][1000 genomes]
rs11800358	0.89[ASN][1000 genomes]
rs11801712	0.89[ASN][1000 genomes]
rs11809518	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs11809796	0.90[ASN][1000 genomes]
rs11811408	0.90[ASN][1000 genomes]
rs11811876	0.94[ASN][1000 genomes]
rs12145527	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs12145593	0.94[ASN][1000 genomes]
rs15655	0.86[CHD][hapmap]
rs16864740	0.90[ASN][1000 genomes]
rs1894664	0.90[ASN][1000 genomes]
rs2014613	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298914	0.81[CHD][hapmap]
rs56941416	0.90[ASN][1000 genomes]
rs56994188	0.90[ASN][1000 genomes]
rs57689480	0.90[ASN][1000 genomes]
rs58035845	0.94[ASN][1000 genomes]
rs59146152	0.89[ASN][1000 genomes]
rs60554980	0.94[ASN][1000 genomes]
rs6662126	0.94[ASN][1000 genomes]
rs6667559	0.86[CHD][hapmap]
rs6684567	0.95[ASN][1000 genomes]
rs6703259	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73041958	0.90[ASN][1000 genomes]
rs73041960	0.90[ASN][1000 genomes]
rs73041965	0.90[ASN][1000 genomes]
rs73041966	0.90[ASN][1000 genomes]
rs73041973	0.94[ASN][1000 genomes]
rs7536328	0.90[ASN][1000 genomes]
rs7541132	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv872544	chr1:171616822-171654968	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10489248	DPT	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171644600-171645800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:171644600-171645800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:171644800-171646000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:171645000-171646000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:171645400-171646000	Weak transcription	Stomach Smooth Muscle	stomach

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