Variant report

Variant	rs2888312
Chromosome Location	chr3:43484967-43484968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1021049	0.91[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.82[ASN][1000 genomes]
rs1026887	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1038202	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11130006	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11706123	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11706130	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11708097	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11708173	0.87[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs11709165	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11709517	0.82[CEU][hapmap];0.91[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes]
rs11710079	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710107	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710253	0.88[AMR][1000 genomes]
rs11710486	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11710955	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11711651	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11711758	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11712894	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11713382	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714015	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];0.80[TSI][hapmap];0.94[ASN][1000 genomes]
rs11715609	0.81[EUR][1000 genomes]
rs11716569	0.91[ASN][1000 genomes]
rs11717380	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11717449	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11719258	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12152260	0.82[ASN][1000 genomes]
rs12374079	0.91[ASN][1000 genomes]
rs13061553	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13072613	0.94[ASN][1000 genomes]
rs13075520	0.94[ASN][1000 genomes]
rs13079636	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13082581	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13084604	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13086999	0.94[ASN][1000 genomes]
rs13092838	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.94[ASN][1000 genomes]
rs13097209	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13098202	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.94[ASN][1000 genomes]
rs1384434	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1471643	1.00[ASN][1000 genomes]
rs1471644	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1482648	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.94[ASN][1000 genomes]
rs1482649	0.94[ASN][1000 genomes]
rs1482650	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1482651	0.91[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1482652	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.80[TSI][hapmap];0.91[ASN][1000 genomes]
rs1482653	0.82[ASN][1000 genomes]
rs1506615	0.82[EUR][1000 genomes]
rs1506616	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17030517	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17407745	1.00[ASN][1000 genomes]
rs17407870	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MKK][hapmap];0.80[TSI][hapmap];0.94[ASN][1000 genomes]
rs17407912	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.94[ASN][1000 genomes]
rs17408925	0.94[ASN][1000 genomes]
rs17643558	0.90[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2010778	0.94[ASN][1000 genomes]
rs2054552	0.87[ASN][1000 genomes]
rs2054553	0.91[ASN][1000 genomes]
rs2054554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2086653	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];1.00[ASN][1000 genomes]
rs2127725	0.82[ASN][1000 genomes]
rs2170219	0.91[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2199892	0.94[ASN][1000 genomes]
rs2219902	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.80[TSI][hapmap];0.94[ASN][1000 genomes]
rs2372433	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.94[ASN][1000 genomes]
rs2372436	0.94[ASN][1000 genomes]
rs2372487	0.94[ASN][1000 genomes]
rs3048943	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34031620	0.81[EUR][1000 genomes]
rs34112359	0.85[EUR][1000 genomes]
rs34279519	0.94[ASN][1000 genomes]
rs34548104	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34898315	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34919938	0.84[ASN][1000 genomes]
rs35015014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35133889	0.94[ASN][1000 genomes]
rs35323779	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35418463	0.94[ASN][1000 genomes]
rs35690908	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3755602	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs3772165	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3772167	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3821381	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3902207	0.94[ASN][1000 genomes]
rs4234430	1.00[JPT][hapmap]
rs4564953	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682690	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4682691	1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4682892	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.94[ASN][1000 genomes]
rs4682897	0.82[ASN][1000 genomes]
rs4682898	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6441775	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6441776	0.94[ASN][1000 genomes]
rs6441779	0.92[ASN][1000 genomes]
rs6441780	0.94[ASN][1000 genomes]
rs6441781	0.91[ASN][1000 genomes]
rs6441785	0.84[ASN][1000 genomes]
rs6441786	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6441787	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs66842319	0.94[ASN][1000 genomes]
rs67032102	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6763321	0.87[ASN][1000 genomes]
rs6767983	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6768557	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.94[ASN][1000 genomes]
rs6775337	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6779864	0.82[ASN][1000 genomes]
rs6781290	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6782442	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6797855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6806339	0.87[ASN][1000 genomes]
rs6809134	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.94[ASN][1000 genomes]
rs73072960	0.84[AMR][1000 genomes]
rs73075063	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7428158	0.81[CHB][hapmap];0.97[GIH][hapmap];0.80[TSI][hapmap];0.83[ASN][1000 genomes]
rs7616708	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7621271	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7648082	0.82[ASN][1000 genomes]
rs7653738	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs9311341	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9682975	0.89[ASN][1000 genomes]
rs9829081	0.94[ASN][1000 genomes]
rs9851894	0.85[ASN][1000 genomes]
rs9863479	0.91[ASN][1000 genomes]
rs9878330	0.91[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2888312	TMEM42	cis	cerebellum	SCAN
rs2888312	MRPS18A	trans	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43443000-43495600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:43457000-43492800	Weak transcription	K562	blood
3	chr3:43459800-43496400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:43460800-43496400	Weak transcription	HSMM	muscle
5	chr3:43466600-43496400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:43473400-43541400	Weak transcription	Aorta	Aorta
7	chr3:43474200-43504400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr3:43477600-43485400	Weak transcription	Fetal Lung	lung
9	chr3:43479400-43486200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:43480600-43496400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:43481400-43486000	Weak transcription	Ovary	ovary
12	chr3:43481400-43487200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr3:43481400-43487600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:43483600-43486000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:43484800-43485200	Enhancers	HUVEC	blood vessel
16	chr3:43484800-43487800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:43484800-43492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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