Variant report

Variant	rs4640512
Chromosome Location	chr3:157120066-157120067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1027603	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs10936085	0.94[CHB][hapmap]
rs10936086	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10936087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12486427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12492874	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12492929	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12496879	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs12629552	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12636038	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12638732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13087207	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1456097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1456105	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456106	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1456108	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1456110	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs1500916	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1500919	0.83[EUR][1000 genomes]
rs1500920	0.92[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs1545596	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1546261	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs1563420	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1568609	0.95[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs1568612	0.83[CHB][hapmap]
rs1585080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1824058	1.00[CEU][hapmap];0.89[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs1840668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1840673	1.00[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1869857	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs1869859	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1965246	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2047649	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2085315	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2124497	0.94[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2168430	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2168431	0.94[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2305620	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2305622	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28638274	0.84[CEU][hapmap]
rs35004310	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3816527	0.90[JPT][hapmap]
rs3816528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4435581	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4482625	0.82[EUR][1000 genomes]
rs4640513	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs4679793	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4680351	0.83[CHB][hapmap]
rs4680358	0.83[EUR][1000 genomes]
rs4680359	0.94[CHB][hapmap]
rs4680360	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4680367	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs56249701	0.83[EUR][1000 genomes]
rs6441126	0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6441127	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6441128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441129	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6776647	0.83[CHB][hapmap]
rs6801110	1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6803628	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs722484	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7614339	0.88[CHB][hapmap]
rs7617727	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7618502	0.82[EUR][1000 genomes]
rs7618737	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7623173	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7626884	0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7629293	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7631556	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs7634847	0.80[ASN][1000 genomes]
rs7639254	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9857875	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs9871290	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9878474	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883103	0.84[CHB][hapmap]
rs988587	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs988588	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs9990136	1.00[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.83[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	esv2757900	chr3:157090166-157254684	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759193	chr3:157090166-157254684	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157091800-157142600	Weak transcription	Pancreas	Pancrea
2	chr3:157107400-157128000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:157107800-157123000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:157109400-157122800	Weak transcription	Osteobl	bone
5	chr3:157113400-157122600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:157113400-157129800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:157116000-157128600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:157118000-157120200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:157118800-157120400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:157119000-157120200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:157119000-157142800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:157119200-157121600	Weak transcription	HUVEC	blood vessel
13	chr3:157120000-157142600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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