Variant report

Variant	rs12495399
Chromosome Location	chr3:50776882-50776883
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 112 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs1077215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[ASN][1000 genomes]
rs11712367	0.82[CHD][hapmap]
rs11917538	0.82[CHD][hapmap]
rs12485524	0.83[EUR][1000 genomes]
rs12486717	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12486828	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12487821	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]
rs12488831	0.82[AMR][1000 genomes];0.83[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];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12489607	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12490519	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12491402	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12491440	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs12492093	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs12492367	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12492540	0.86[ASN][1000 genomes]
rs12492850	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12492982	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12494326	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap]
rs12494708	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12494776	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12496601	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12497067	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17051000	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17051043	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17051045	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17051403	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17051468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[ASN][1000 genomes]
rs175634	0.83[CHD][hapmap]
rs1894459	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2035484	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2076927	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2125368	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs2170840	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[ASN][1000 genomes]
rs2227292	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs2239751	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs2239752	0.84[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap]
rs2239753	1.00[ASW][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs2262847	0.86[ASN][1000 genomes]
rs2285090	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs2355707	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3749265	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs375544	0.82[CHD][hapmap]
rs3792323	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[ASN][1000 genomes]
rs3792328	0.82[CHD][hapmap]
rs4078296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs4476497	0.83[ASN][1000 genomes]
rs4485709	0.82[CHD][hapmap]
rs453570	0.81[CHD][hapmap]
rs4688695	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4688697	0.83[ASN][1000 genomes]
rs4688705	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4688710	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4688752	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs56844171	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56856095	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs57910827	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs58356214	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58427389	0.82[ASN][1000 genomes]
rs58529408	0.88[ASN][1000 genomes]
rs59036236	0.90[ASN][1000 genomes]
rs60552386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60602904	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60877431	0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs60882641	0.80[ASN][1000 genomes]
rs60917457	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs61557316	0.90[ASN][1000 genomes]
rs61627377	0.82[ASN][1000 genomes]
rs616689	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[ASN][1000 genomes]
rs61676409	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6446208	0.85[ASN][1000 genomes]
rs6446212	0.82[CHD][hapmap]
rs6446213	0.82[CHD][hapmap]
rs6446222	0.81[CHD][hapmap]
rs650655	0.82[ASN][1000 genomes]
rs6771348	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6779819	0.82[CHD][hapmap]
rs6783922	0.83[ASN][1000 genomes]
rs6794155	0.90[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];0.86[ASN][1000 genomes]
rs72937251	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72937253	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72937262	0.82[ASN][1000 genomes]
rs72937265	0.82[ASN][1000 genomes]
rs72937299	0.82[AMR][1000 genomes]
rs72942530	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72942567	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72942785	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs72942794	0.90[ASN][1000 genomes]
rs72944726	0.89[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs72944730	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7372342	0.80[ASN][1000 genomes]
rs7427526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs743753	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs745356	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7615703	0.82[CHD][hapmap]
rs7627266	0.82[CHD][hapmap]
rs762889	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs7638082	0.82[CHD][hapmap]
rs808148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs813243	0.82[CHD][hapmap]
rs876103	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs876104	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[ASN][1000 genomes]
rs876105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9825535	0.82[CHD][hapmap]
rs9868889	0.83[ASN][1000 genomes]
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];0.86[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12495399	HEMK1	cis	multi-tissue	Pritchard
rs12495399	HEMK1	cis	lymphoblastoid	seeQTL
rs12495399	HEMK	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50774800-50777000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr3:50774800-50777000	Enhancers	Brain Angular Gyrus	brain
3	chr3:50775400-50777000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr3:50775600-50777000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:50775800-50787400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:50776000-50777400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:50776000-50789000	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:50776000-50790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:50776800-50785800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:50776800-50785800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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