Variant report

Variant	rs4666704
Chromosome Location	chr2:187342847-187342848
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 141 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs10172511	0.82[AMR][1000 genomes]
rs10172850	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10189971	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10192067	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10196208	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10203879	0.81[AMR][1000 genomes]
rs10205506	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10205705	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10210844	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1026118	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10931239	0.84[AMR][1000 genomes]
rs10931242	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10931245	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11673938	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11676936	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11683595	0.83[AMR][1000 genomes]
rs11693737	0.83[AMR][1000 genomes]
rs11884786	0.84[AMR][1000 genomes]
rs11889909	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12467212	0.81[ASN][1000 genomes]
rs12473076	0.80[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12473542	0.82[AMR][1000 genomes]
rs12475522	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12476313	0.85[ASN][1000 genomes]
rs12477683	0.82[AMR][1000 genomes]
rs12611673	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12612249	0.85[ASN][1000 genomes]
rs12619990	0.82[AMR][1000 genomes]
rs12693447	0.82[AMR][1000 genomes]
rs12693448	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12693449	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12993773	0.95[JPT][hapmap]
rs12997583	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12998229	0.82[ASN][1000 genomes]
rs12999247	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs12999438	0.85[ASN][1000 genomes]
rs13003337	0.82[ASN][1000 genomes]
rs13011581	0.85[ASN][1000 genomes]
rs13017038	0.81[ASN][1000 genomes]
rs13025505	0.80[CHB][hapmap];0.96[JPT][hapmap];0.85[ASN][1000 genomes]
rs13027135	0.82[AMR][1000 genomes]
rs13029766	0.81[ASN][1000 genomes]
rs13029818	0.85[ASN][1000 genomes]
rs13030324	0.82[ASN][1000 genomes]
rs1349154	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1375321	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1375324	0.82[AMR][1000 genomes]
rs1375325	0.82[AMR][1000 genomes]
rs1375326	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1375327	0.82[AMR][1000 genomes]
rs1375328	0.82[AMR][1000 genomes]
rs1448851	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1448852	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1448854	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1448860	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1448861	0.84[AMR][1000 genomes]
rs1448863	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1451874	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1470230	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1562646	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1562647	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1900835	0.84[AMR][1000 genomes]
rs1975594	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1992930	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2044919	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2084485	0.82[ASN][1000 genomes]
rs2119865	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2122087	0.85[ASN][1000 genomes]
rs2197816	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2305409	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2370691	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2370692	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3768775	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3768776	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4144785	0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs4144786	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4144822	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4144824	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4666701	0.84[AMR][1000 genomes]
rs4666703	0.82[ASN][1000 genomes]
rs4666705	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4667081	0.84[AMR][1000 genomes]
rs4667086	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4667089	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4667091	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4667092	0.82[ASN][1000 genomes]
rs4667093	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667094	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4667095	0.81[ASN][1000 genomes]
rs4667097	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667098	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4667099	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4667100	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4667101	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4667102	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56044376	0.88[AMR][1000 genomes]
rs6434170	0.82[AMR][1000 genomes]
rs6434171	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6434177	1.00[CEU][hapmap];0.91[YRI][hapmap];0.84[AMR][1000 genomes]
rs6434179	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs6434181	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6434182	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs6434183	0.96[JPT][hapmap];0.83[ASN][1000 genomes]
rs6712627	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6717081	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6717965	0.82[AMR][1000 genomes]
rs6728734	0.82[AMR][1000 genomes]
rs6732188	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6732449	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6740632	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6741184	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6745873	0.82[AMR][1000 genomes]
rs6747289	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6749314	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6752407	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6754179	0.82[ASN][1000 genomes]
rs6755955	0.82[AMR][1000 genomes]
rs6759502	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs716130	0.82[AMR][1000 genomes]
rs7556814	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7558599	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7562659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7568700	0.95[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7569642	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7570883	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7581081	0.86[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs7582052	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7586276	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7586291	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7586995	0.83[AMR][1000 genomes]
rs7587410	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7595269	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7597285	0.85[ASN][1000 genomes]
rs7602918	0.82[AMR][1000 genomes]
rs7606494	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7607162	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs980540	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs9807987	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs988110	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][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	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4666704	RP11-410E4.1	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187320600-187347400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr2:187322600-187345400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:187328000-187350400	Weak transcription	Pancreas	Pancrea
4	chr2:187337000-187347000	Weak transcription	HepG2	liver
5	chr2:187337000-187348000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:187339800-187347400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:187339800-187348400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:187339800-187349800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:187340200-187345800	Weak transcription	Fetal Intestine Small	intestine
10	chr2:187342800-187343200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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