Variant report

Variant	rs2004544
Chromosome Location	chr2:153187324-153187325
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	chr2:153186101..153189035-chr2:153189688..153192747,3	K562	blood:
2	chr2:153186735..153189035-chr2:153190286..153192747,2	K562	blood:

Variant related genes	Relation type
ENSG00000157827	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10194916	1.00[JPT][hapmap]
rs11683697	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684622	1.00[CHB][hapmap]
rs11695401	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13023790	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1344837	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17398399	1.00[CHB][hapmap]
rs1987371	0.83[ASN][1000 genomes]
rs2345644	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2345811	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2345884	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2345894	1.00[JPT][hapmap]
rs2346203	1.00[JPT][hapmap]
rs2881241	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4254462	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4664090	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4664097	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4664098	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4664558	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4664565	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4664566	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56669316	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433968	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6433969	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6710870	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6746538	1.00[JPT][hapmap]
rs6747548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6754630	0.89[EUR][1000 genomes]
rs6755112	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67688205	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860473	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72860485	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73002881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693434	chr2:152998467-153208713	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153187000-153191200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:153187200-153187400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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