Variant report

No.	Distal block	Cell Line	Cell type
1	chr14:65288996..65290569-chr14:65296688..65298749,2	MCF-7	breast:
2	chr14:65294605..65297271-chr14:65298357..65301785,4	K562	blood:
3	chr14:65296488..65300322-chr14:65306337..65310294,4	K562	blood:

Variant related genes	Relation type
ENSG00000070182	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10121	0.82[CHB][hapmap]
rs12433757	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12435626	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12436545	1.00[CEU][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs12587537	0.85[JPT][hapmap]
rs17180385	0.88[CEU][hapmap]
rs1957416	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs2016522	0.85[JPT][hapmap]
rs229669	0.88[CEU][hapmap]
rs230698	1.00[CHB][hapmap]
rs230700	1.00[CHB][hapmap]
rs230701	1.00[CHB][hapmap]
rs230715	0.87[CEU][hapmap];0.82[CHB][hapmap]
rs230718	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs230723	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs3819918	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7144515	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs72625634	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72625635	0.87[EUR][1000 genomes]
rs72625636	0.82[EUR][1000 genomes]
rs72625637	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65292000-65297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:65292600-65297800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:65293600-65297400	Weak transcription	Fetal Heart	heart
4	chr14:65294000-65297800	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr14:65294800-65297600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr14:65294800-65297800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr14:65295200-65297400	Weak transcription	Left Ventricle	heart
8	chr14:65295200-65297400	Weak transcription	Right Atrium	heart
9	chr14:65295200-65297400	Weak transcription	Right Ventricle	heart
10	chr14:65296400-65308600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr14:65296600-65297400	Genic enhancers	K562	blood
12	chr14:65296600-65298600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:65296600-65300200	Enhancers	Fetal Muscle Leg	muscle
14	chr14:65297200-65297600	Enhancers	HepG2	liver
15	chr14:65297200-65301200	Enhancers	Psoas Muscle	Psoas
16	chr14:65297200-65304000	Enhancers	Skeletal Muscle Male	skeletal muscle

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