Variant report

Variant	rs13001437
Chromosome Location	chr2:40728703-40728704
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:40726163..40729006-chr2:40732932..40734500,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12989012	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12992540	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12992598	0.84[EUR][1000 genomes]
rs13003735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13029763	0.82[EUR][1000 genomes]
rs13034467	0.95[EUR][1000 genomes]
rs17026064	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17026114	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs17026128	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34106653	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34186538	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34205507	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34214503	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34272753	0.86[EUR][1000 genomes]
rs34446865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34466654	1.00[EUR][1000 genomes]
rs34802220	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34895858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35306270	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35422863	0.89[EUR][1000 genomes]
rs35520511	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35951633	0.83[ASN][1000 genomes]
rs4140728	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57007180	0.89[EUR][1000 genomes]
rs58398246	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60794473	0.84[EUR][1000 genomes]
rs61356646	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61702121	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62149456	0.83[ASN][1000 genomes]
rs71441105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7561779	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:40727000-40736000	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:40727000-40736000	Weak transcription	Left Ventricle	heart
3	chr2:40728200-40728800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:40728400-40729400	Flanking Active TSS	Fetal Heart	heart
5	chr2:40728600-40729200	Enhancers	Rectal Smooth Muscle	rectum

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