Variant report

Variant	rs2372713
Chromosome Location	chr2:37023688-37023689
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1014584	0.91[CEU][hapmap];0.97[GIH][hapmap];0.82[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171853	1.00[ASN][1000 genomes]
rs10174832	1.00[ASN][1000 genomes]
rs10177789	1.00[ASN][1000 genomes]
rs10177905	1.00[ASN][1000 genomes]
rs10179017	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10180537	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10198181	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10209055	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10209211	0.87[AMR][1000 genomes]
rs11124543	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11124545	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692052	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12464180	1.00[ASN][1000 genomes]
rs12618630	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987048	1.00[CHD][hapmap]
rs13382481	1.00[ASN][1000 genomes]
rs13385947	1.00[ASN][1000 genomes]
rs13394344	1.00[ASN][1000 genomes]
rs13398292	1.00[ASN][1000 genomes]
rs13398577	1.00[ASN][1000 genomes]
rs13398883	1.00[ASN][1000 genomes]
rs13411242	1.00[ASN][1000 genomes]
rs13419229	1.00[ASN][1000 genomes]
rs13423835	1.00[ASN][1000 genomes]
rs13426552	1.00[ASN][1000 genomes]
rs13429524	1.00[ASN][1000 genomes]
rs1558701	0.90[CEU][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28692629	1.00[ASN][1000 genomes]
rs34040386	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4670171	0.93[ASW][hapmap];0.90[CEU][hapmap];0.97[GIH][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4670610	1.00[ASN][1000 genomes]
rs4670618	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56808546	1.00[ASN][1000 genomes]
rs6544039	0.86[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6544040	0.81[AMR][1000 genomes]
rs6544041	0.81[AMR][1000 genomes]
rs6721362	0.94[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572592	1.00[ASN][1000 genomes]
rs7606098	0.86[CEU][hapmap];0.97[TSI][hapmap];0.82[EUR][1000 genomes]
rs763724	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv2682	chr2:37015550-37060432	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2372713	QPCT	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37012800-37024800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:37013000-37033000	Weak transcription	Ovary	ovary
3	chr2:37013200-37024400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:37016800-37024600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:37019200-37024600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:37020400-37024400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:37020600-37023800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:37021400-37024600	Weak transcription	Fetal Thymus	thymus
9	chr2:37022200-37027600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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