Variant report

Variant	rs10746394
Chromosome Location	chr1:220137241-220137242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10495142	0.86[EUR][1000 genomes]
rs1061242	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1061248	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10735497	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10746393	0.98[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs10779388	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10779389	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10779390	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10779391	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10863518	0.86[EUR][1000 genomes]
rs10863519	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10863520	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs10863521	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11118468	0.86[EUR][1000 genomes]
rs11118469	0.86[EUR][1000 genomes]
rs11118470	0.86[EUR][1000 genomes]
rs11118472	0.85[EUR][1000 genomes]
rs11118473	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs11118474	0.99[EUR][1000 genomes]
rs11118476	0.99[EUR][1000 genomes]
rs11118477	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11118480	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11811258	0.98[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs12032866	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12032898	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12039217	0.86[EUR][1000 genomes]
rs12045445	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12049352	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12098052	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12126940	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12409750	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs12726890	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1353720	0.85[EUR][1000 genomes]
rs1391566	0.87[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs17006909	0.85[EUR][1000 genomes]
rs1846254	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1846255	0.93[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1874811	0.99[EUR][1000 genomes]
rs1874812	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1874813	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1874814	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1982984	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1982986	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2027504	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2030078	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2030079	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2047450	0.85[EUR][1000 genomes]
rs2047451	0.86[EUR][1000 genomes]
rs2133194	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2133195	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2173403	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2270710	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2270712	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2789784	0.86[EUR][1000 genomes]
rs28473426	0.85[EUR][1000 genomes]
rs28602468	0.85[EUR][1000 genomes]
rs34309222	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35195138	0.94[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs3816993	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3816994	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4263999	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4323718	0.86[EUR][1000 genomes]
rs4385715	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4531301	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4536003	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4614265	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4846608	0.86[EUR][1000 genomes]
rs6661109	0.84[EUR][1000 genomes]
rs6663868	0.86[EUR][1000 genomes]
rs6663947	0.84[EUR][1000 genomes]
rs6663964	0.84[EUR][1000 genomes]
rs6686085	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs6699954	0.84[EUR][1000 genomes]
rs7521388	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7521682	0.86[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7527659	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7527749	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7534891	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7535650	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7535767	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7535773	0.93[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs7536968	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7539385	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7539937	0.85[EUR][1000 genomes]
rs7553236	0.93[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs949866	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv998124	chr1:220132739-220189211	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10746394	EPRS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220129200-220145800	Weak transcription	HepG2	liver
2	chr1:220132000-220138800	Weak transcription	Aorta	Aorta
3	chr1:220132200-220144200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:220132400-220143200	Weak transcription	Colonic Mucosa	Colon
5	chr1:220132800-220141000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:220132800-220177000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:220133000-220141200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:220133400-220138600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:220133600-220140800	Weak transcription	Fetal Intestine Large	intestine
10	chr1:220133600-220141000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:220133600-220142200	Weak transcription	Small Intestine	intestine
12	chr1:220135400-220137800	Weak transcription	K562	blood
13	chr1:220136400-220138000	Enhancers	Liver	Liver
14	chr1:220137000-220137400	Enhancers	Pancreas	Pancrea
15	chr1:220137200-220145800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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