Variant report

Variant	rs1343517
Chromosome Location	chr1:75811811-75811812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1004053	0.90[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs10493571	0.85[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.87[ASN][1000 genomes]
rs10493573	0.81[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.88[ASN][1000 genomes]
rs10874149	0.95[ASN][1000 genomes]
rs11163074	0.90[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs11163089	0.88[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.87[ASN][1000 genomes]
rs11163095	0.87[ASN][1000 genomes]
rs11163114	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs11163154	0.81[CEU][hapmap];0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs11163155	0.88[ASN][1000 genomes]
rs11163185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1144297	0.81[CEU][hapmap]
rs12030510	0.81[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap]
rs12038999	0.88[ASN][1000 genomes]
rs12404058	0.81[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap]
rs1249655	0.82[CEU][hapmap];0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs1249656	0.81[CEU][hapmap];0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs1249657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1249659	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1249660	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1249670	0.90[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs1249675	0.90[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs1249838	0.88[CEU][hapmap];0.86[GIH][hapmap]
rs1249839	0.88[CEU][hapmap]
rs1249845	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12562924	0.81[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.88[ASN][1000 genomes]
rs12726507	0.81[CEU][hapmap];0.83[CHB][hapmap];0.87[ASN][1000 genomes]
rs12744088	0.85[CEU][hapmap];0.83[CHB][hapmap];0.87[ASN][1000 genomes]
rs12756704	0.81[CEU][hapmap];0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs1505258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1613680	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1700893	0.81[CEU][hapmap];0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs2135142	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2657206	0.81[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.88[ASN][1000 genomes]
rs623850	1.00[CHD][hapmap]
rs6593571	0.95[ASN][1000 genomes]
rs6656537	0.81[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap]
rs6658610	0.81[CEU][hapmap];0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs7548993	0.85[CEU][hapmap];0.83[CHB][hapmap];0.87[ASN][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	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013952	chr1:75716654-75936048	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv535004	chr1:75716654-75936048	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75807000-75812400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:75808800-75813000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:75811000-75812000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:75811200-75812000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:75811600-75812000	Enhancers	HUVEC	blood vessel
6	chr1:75811600-75812600	Enhancers	NH-A	brain
7	chr1:75811800-75812000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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