Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:172764440..172768356-chr2:172769175..172774540,8	K562	blood:
2	chr2:172763759..172768235-chr2:172769175..172774540,7	K562	blood:
3	chr2:172758196..172760986-chr2:172762704..172765677,2	K562	blood:
4	chr2:172763906..172767065-chr2:172777773..172780432,4	K562	blood:
5	chr2:172750354..172753126-chr2:172762746..172766983,5	MCF-7	breast:
6	chr2:172758196..172762608-chr2:172762704..172765555,5	K562	blood:
7	chr2:172763886..172766598-chr2:172776885..172778453,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128708	Chromatin interaction
ENSG00000115840	Chromatin interaction

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10209911	0.85[AMR][1000 genomes]
rs10497377	0.85[AMR][1000 genomes]
rs12616766	0.85[AMR][1000 genomes]
rs12620126	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs12622772	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs12622895	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12624292	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17581481	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17581509	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs17615262	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs17615352	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17615589	0.85[AMR][1000 genomes]
rs17615607	0.85[AMR][1000 genomes]
rs2357323	0.85[AMR][1000 genomes]
rs3736499	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3765166	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3770448	0.92[CHB][hapmap];0.91[JPT][hapmap]
rs3770455	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs3796000	1.00[EUR][1000 genomes]
rs3821093	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs56923699	0.85[AMR][1000 genomes]
rs57377675	1.00[AMR][1000 genomes]
rs57887937	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58368273	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58540694	1.00[EUR][1000 genomes]
rs73976544	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv536037	chr2:172745597-172780616	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172764600-172765400	Enhancers	Primary neutrophils fromperipheralblood	blood

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