Variant report

Variant	rs1249675
Chromosome Location	chr1:75770625-75770626
allele	A/G
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: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1004053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493571	0.90[CHD][hapmap];0.87[ASN][1000 genomes]
rs10493573	0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs10874149	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11163089	0.90[CHD][hapmap];0.87[ASN][1000 genomes]
rs11163095	0.87[ASN][1000 genomes]
rs11163154	0.85[ASN][1000 genomes]
rs11163155	0.85[ASN][1000 genomes]
rs11163185	0.90[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs12030510	0.90[CHD][hapmap]
rs12038999	0.85[ASN][1000 genomes]
rs12404058	0.90[CHD][hapmap]
rs1249655	0.82[ASN][1000 genomes]
rs1249656	0.85[ASN][1000 genomes]
rs1249657	0.90[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs1249659	0.90[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs1249660	0.96[ASN][1000 genomes]
rs1249670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1249845	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs12562924	0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs12726507	0.84[ASN][1000 genomes]
rs12744088	0.87[ASN][1000 genomes]
rs12756704	0.85[ASN][1000 genomes]
rs1343517	0.90[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs1505258	0.90[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs1613680	0.96[ASN][1000 genomes]
rs1700893	0.85[ASN][1000 genomes]
rs2135142	0.96[ASN][1000 genomes]
rs2202473	0.81[CEU][hapmap]
rs2657206	0.90[CHD][hapmap];0.85[ASN][1000 genomes]
rs599291	0.81[CEU][hapmap]
rs600734	0.81[CEU][hapmap]
rs609574	0.81[CEU][hapmap]
rs611899	0.81[CEU][hapmap]
rs623850	1.00[CEU][hapmap];1.00[CHD][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap]
rs627494	0.84[CEU][hapmap]
rs6593571	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656537	0.87[CHD][hapmap]
rs6658610	0.85[ASN][1000 genomes]
rs686453	0.81[CEU][hapmap]
rs7548993	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

Variant related diseases (count:1)

Disease	PMID	Source
Capecitabine sensitivity	22864933	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75770200-75772000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:75770600-75771000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:75770600-75771600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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