Variant report

Variant	rs2870040
Chromosome Location	chr4:91039894-91039895
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	chr4:91038578..91040695-chr4:91044808..91046326,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11932400	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11934796	0.92[ASN][1000 genomes]
rs11935738	0.92[ASN][1000 genomes]
rs11937976	0.92[ASN][1000 genomes]
rs11944177	0.92[ASN][1000 genomes]
rs11945007	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11947949	0.92[ASN][1000 genomes]
rs11947970	0.92[ASN][1000 genomes]
rs12331460	0.89[ASN][1000 genomes]
rs12644131	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12645259	0.92[ASN][1000 genomes]
rs12650984	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13116571	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17016481	0.83[EUR][1000 genomes]
rs17016538	0.84[ASN][1000 genomes]
rs17016540	0.93[ASN][1000 genomes]
rs17016560	0.91[ASN][1000 genomes]
rs17016562	0.92[ASN][1000 genomes]
rs17016565	0.92[ASN][1000 genomes]
rs17016575	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17016581	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17016596	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17016622	0.88[ASN][1000 genomes]
rs1835518	0.92[ASN][1000 genomes]
rs1835519	0.92[ASN][1000 genomes]
rs1835522	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1835523	0.92[ASN][1000 genomes]
rs1835524	0.91[ASN][1000 genomes]
rs1946567	0.92[ASN][1000 genomes]
rs1963874	0.93[ASN][1000 genomes]
rs1986976	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2726	0.91[ASN][1000 genomes]
rs35545901	0.92[ASN][1000 genomes]
rs4339173	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4403004	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5006831	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55924200	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56054231	0.92[ASN][1000 genomes]
rs57291587	0.92[ASN][1000 genomes]
rs57352504	0.86[ASN][1000 genomes]
rs57711133	0.89[ASN][1000 genomes]
rs57845937	0.83[EUR][1000 genomes]
rs58507725	0.84[ASN][1000 genomes]
rs58617553	0.86[ASN][1000 genomes]
rs60047025	0.90[ASN][1000 genomes]
rs60520837	0.93[ASN][1000 genomes]
rs61308573	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61394011	0.92[ASN][1000 genomes]
rs6532214	0.92[ASN][1000 genomes]
rs6532215	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6824746	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6829376	0.88[ASN][1000 genomes]
rs6834950	0.91[ASN][1000 genomes]
rs6837278	0.92[ASN][1000 genomes]
rs6838176	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6844776	0.84[ASN][1000 genomes]
rs6849100	0.84[ASN][1000 genomes]
rs6855891	0.84[ASN][1000 genomes]
rs72874369	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72874395	0.92[ASN][1000 genomes]
rs72874402	0.92[ASN][1000 genomes]
rs72876108	0.92[ASN][1000 genomes]
rs72876110	0.91[ASN][1000 genomes]
rs72876113	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72876151	0.88[ASN][1000 genomes]
rs7667087	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7677289	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7680617	0.92[ASN][1000 genomes]
rs7698120	0.88[ASN][1000 genomes]
rs9307081	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv470053	chr4:90879613-91439573	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv879537	chr4:90883047-91165346	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv931074	chr4:90970476-91753697	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv830006	chr4:90971656-91186340	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv879538	chr4:90993172-91080308	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv879539	chr4:91015463-91065352	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91039000-91043600	Weak transcription	Fetal Brain Male	brain
2	chr4:91039200-91040400	Enhancers	Fetal Intestine Large	intestine
3	chr4:91039400-91040000	Enhancers	GM12878-XiMat	blood
4	chr4:91039800-91040400	Enhancers	Primary monocytes fromperipheralblood	blood

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