Variant report

Variant	rs7513119
Chromosome Location	chr1:169690816-169690817
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169690602..169692363-chr1:169698364..169700562,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1051091	0.90[CHB][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1076637	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1076638	0.91[EUR][1000 genomes]
rs10919228	0.90[EUR][1000 genomes]
rs12027035	0.83[CEU][hapmap]
rs12072966	0.95[CHB][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12076368	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];0.99[ASN][1000 genomes]
rs12079552	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087033	0.95[CHB][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12131780	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1883228	0.95[CHB][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1883229	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1961877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2205847	0.95[CHB][hapmap];0.87[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2205849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2229569	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2298899	0.95[CHB][hapmap]
rs2420503	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs28469136	0.90[EUR][1000 genomes]
rs35289447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3766129	0.95[CHB][hapmap];0.88[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3917423	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs3917428	0.95[CHB][hapmap]
rs3917430	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3917432	0.95[CHB][hapmap]
rs3917435	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4427452	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656718	0.84[CHB][hapmap]
rs4987266	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4987298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4987301	0.95[CHB][hapmap]
rs4987306	0.95[CHB][hapmap]
rs4987314	0.95[CHB][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4987320	0.95[CHB][hapmap]
rs4987322	0.95[CHB][hapmap]
rs4987328	0.95[CHB][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs5356	0.85[CHB][hapmap]
rs5359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5368	0.84[CHB][hapmap]
rs58662634	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59807249	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7418242	0.95[CHB][hapmap]
rs964555	0.95[CHB][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs964556	0.95[CHB][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs964557	0.95[CHB][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv872541	chr1:169672360-169695815	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169681200-169692000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:169681400-169691200	Weak transcription	Liver	Liver
3	chr1:169690800-169691400	Enhancers	Dnd41	blood

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