Variant report

Variant	rs12487821
Chromosome Location	chr3:50842478-50842479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1077215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[ASN][1000 genomes]
rs11712367	0.82[CHD][hapmap]
rs11917538	0.82[CHD][hapmap]
rs12485524	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12486717	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12486828	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12488700	0.93[JPT][hapmap]
rs12488831	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs12488948	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12489607	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs12490519	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12491206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap]
rs12491402	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12491440	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12492367	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12492540	0.83[AFR][1000 genomes]
rs12492850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12494214	0.81[ASN][1000 genomes]
rs12494708	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12494776	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12495399	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12496601	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12496621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[ASN][1000 genomes]
rs12497067	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17051043	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs17051045	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs17051403	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs17051468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[ASN][1000 genomes]
rs175634	0.83[CHD][hapmap]
rs2035484	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2076927	0.81[ASN][1000 genomes]
rs2125368	1.00[CEU][hapmap];0.94[ASN][1000 genomes]
rs2170840	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs2239751	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs2239752	0.84[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs2239753	1.00[ASW][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs2262847	0.94[ASN][1000 genomes]
rs2355707	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs375544	0.82[CHD][hapmap]
rs3792323	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs3792328	0.82[CHD][hapmap]
rs4073739	0.81[ASN][1000 genomes]
rs4078296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs4485709	0.82[CHD][hapmap]
rs4688695	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4688696	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4688697	0.91[ASN][1000 genomes]
rs4688705	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4688752	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs56844171	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56856095	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs58356214	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58529408	0.81[ASN][1000 genomes]
rs58720544	0.86[ASN][1000 genomes]
rs59036236	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs60184902	0.85[ASN][1000 genomes]
rs60552386	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60602904	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60882641	0.88[ASN][1000 genomes]
rs60917457	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs61557316	0.91[ASN][1000 genomes]
rs61627377	0.89[ASN][1000 genomes]
rs616689	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs61676409	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6446212	0.82[CHD][hapmap]
rs6446213	0.82[CHD][hapmap]
rs6446222	0.81[CHD][hapmap]
rs6446239	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6771348	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6779819	0.82[CHD][hapmap]
rs6794155	0.82[ASN][1000 genomes]
rs6795573	0.82[CHD][hapmap]
rs6796769	0.82[CHD][hapmap]
rs728902	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs72937251	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72937253	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72937262	0.89[ASN][1000 genomes]
rs72937265	0.89[ASN][1000 genomes]
rs72937299	0.86[ASN][1000 genomes]
rs72942530	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72942567	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72942794	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs72944726	0.81[ASN][1000 genomes]
rs72944730	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7372342	1.00[CEU][hapmap];0.85[YRI][hapmap];0.88[ASN][1000 genomes]
rs7427526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7427615	1.00[CEU][hapmap];0.94[JPT][hapmap];0.86[YRI][hapmap];0.81[ASN][1000 genomes]
rs7433217	0.81[CHD][hapmap]
rs743753	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs745356	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7614482	0.82[CHD][hapmap]
rs7615703	0.82[CHD][hapmap]
rs7627266	0.82[CHD][hapmap]
rs7638082	0.82[CHD][hapmap]
rs808148	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs813243	0.82[CHD][hapmap]
rs876103	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs876104	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs876105	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9825535	0.82[CHD][hapmap]
rs9869945	0.82[CHD][hapmap]
rs9875961	0.81[CHD][hapmap]
rs9879397	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12487821	HEMK1	cis	lymphoblastoid	seeQTL
rs12487821	HEMK1	cis	multi-tissue	Pritchard
rs12487821	HEMK	cis	multi-tissue	Pritchard

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50840400-50844200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:50841400-50844000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:50841800-50842600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:50842000-50842800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr3:50842000-50843000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr3:50842200-50842600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:50842200-50843200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:50842200-50843600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:50842200-50843600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:50842400-50843200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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