Variant report

Variant	rs7548993
Chromosome Location	chr1:75773461-75773462
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75770101..75774631-chr1:75777492..75782800,4	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1004053	0.87[ASN][1000 genomes]
rs10493571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493573	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10874149	0.87[ASN][1000 genomes]
rs11163074	0.84[ASN][1000 genomes]
rs11163089	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163095	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163114	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs11163154	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11163155	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11163185	0.85[CEU][hapmap];0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs1144297	0.89[CEU][hapmap]
rs12030510	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs12038999	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12404058	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs1249655	0.90[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1249656	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1249657	0.85[CEU][hapmap];0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs1249659	0.85[CEU][hapmap];0.83[CHB][hapmap];0.88[ASN][1000 genomes]
rs1249660	0.88[ASN][1000 genomes]
rs1249670	0.87[ASN][1000 genomes]
rs1249675	0.87[ASN][1000 genomes]
rs1249845	0.86[CEU][hapmap];0.84[CHB][hapmap]
rs12562924	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12726507	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12744088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756704	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1343517	0.85[CEU][hapmap];0.83[CHB][hapmap];0.87[ASN][1000 genomes]
rs1505258	0.86[CEU][hapmap];0.84[CHB][hapmap];0.88[ASN][1000 genomes]
rs1613680	0.88[ASN][1000 genomes]
rs1700893	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2135142	0.88[ASN][1000 genomes]
rs2657206	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs623850	1.00[JPT][hapmap]
rs6593571	0.87[ASN][1000 genomes]
rs6656537	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs6658610	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75771400-75774200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:75772800-75773600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:75772800-75774400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:75773000-75774400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:75773200-75774000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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