Variant report

Variant	rs2638240
Chromosome Location	chr12:40576117-40576118
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40570708-40576790..12:40691796-40694737	K562	blood:
2	12:40570708-40576790..12:40703633-40711447	K562	blood:

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2244159	0.90[AFR][1000 genomes]
rs2244534	1.00[AFR][1000 genomes]
rs2244780	0.90[AFR][1000 genomes]
rs2253021	0.86[AFR][1000 genomes]
rs2253171	0.86[AFR][1000 genomes]
rs2253867	0.86[AFR][1000 genomes]
rs2638223	0.86[AFR][1000 genomes]
rs2638235	1.00[AFR][1000 genomes]
rs2638236	1.00[AFR][1000 genomes]
rs2638237	1.00[AFR][1000 genomes]
rs2638241	1.00[AFR][1000 genomes]
rs2638242	0.90[AFR][1000 genomes]
rs2638243	1.00[AFR][1000 genomes]
rs2638261	1.00[AFR][1000 genomes]
rs2638265	1.00[AFR][1000 genomes]
rs2708403	1.00[AFR][1000 genomes]
rs2708405	1.00[AFR][1000 genomes]
rs2708406	1.00[AFR][1000 genomes]
rs2708410	1.00[AFR][1000 genomes]
rs2708411	0.87[AFR][1000 genomes]
rs2708415	1.00[AFR][1000 genomes]
rs2708460	0.86[AFR][1000 genomes]
rs2708461	0.86[AFR][1000 genomes]
rs2708462	1.00[AFR][1000 genomes]
rs2708471	1.00[AFR][1000 genomes]
rs2708475	1.00[AFR][1000 genomes]
rs2708483	1.00[AFR][1000 genomes]
rs2708484	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899031	chr12:40520684-40580440	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1045516	chr12:40543200-40589557	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	esv3398206	chr12:40556364-40581392	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
6	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40575200-40576200	Enhancers	Primary T cells from cord blood	blood
2	chr12:40575200-40576200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr12:40575600-40576200	Enhancers	Primary monocytes fromperipheralblood	blood

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