Variant report

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90854578..90857222-chr8:90915273..90917997,2	MCF-7	breast:
2	chr8:90853874..90856166-chr8:90995472..90997827,2	MCF-7	breast:
3	chr8:90836699..90839189-chr8:90853198..90855476,2	MCF-7	breast:
4	chr8:90852614..90855258-chr8:90856891..90858844,2	MCF-7	breast:
5	chr8:90730992..90732620-chr8:90854047..90856090,2	MCF-7	breast:
6	chr8:90854658..90857066-chr8:90864684..90867899,3	MCF-7	breast:
7	chr8:90852737..90854940-chr8:90914150..90915970,2	MCF-7	breast:
8	chr8:90816818..90818597-chr8:90852863..90855109,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction
ENSG00000164823	Chromatin interaction

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10094579	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10096271	0.93[ASN][1000 genomes]
rs11785163	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12155807	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12675822	0.88[AFR][1000 genomes]
rs12679902	0.82[EUR][1000 genomes]
rs12680009	0.88[AFR][1000 genomes]
rs13260987	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13278954	0.98[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13280951	0.81[ASN][1000 genomes]
rs16901016	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2338882	0.81[ASN][1000 genomes]
rs2338883	0.94[ASN][1000 genomes]
rs28461337	0.81[ASN][1000 genomes]
rs28766093	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2879287	0.94[ASN][1000 genomes]
rs34525502	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34699769	0.98[AFR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35183880	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs39771	0.81[ASN][1000 genomes]
rs426240	0.81[ASN][1000 genomes]
rs62530862	0.82[ASN][1000 genomes]
rs6984540	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7013987	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7015630	0.94[ASN][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv520356	chr8:90823687-90857989	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34642426	RIPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90847600-90860600	Weak transcription	Aorta	Aorta
2	chr8:90850200-90860600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:90850400-90860200	Weak transcription	GM12878-XiMat	blood
4	chr8:90852800-90855000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:90853200-90860600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:90854000-90860200	Weak transcription	A549	lung
7	chr8:90854000-90860600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:90854000-90860600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:90854000-90860600	Weak transcription	NHLF	lung
10	chr8:90854200-90860600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:90854200-90860600	Weak transcription	HUVEC	blood vessel
12	chr8:90854400-90855000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr8:90854400-90860200	Weak transcription	Osteobl	bone
14	chr8:90854600-90860200	Weak transcription	NHDF-Ad	bronchial
15	chr8:90854600-90860600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:90854600-90860600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr8:90854800-90860200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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