Variant report

Variant	rs34699769
Chromosome Location	chr8:90853347-90853348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90850950..90853766-chr8:90995447..90997024,2	K562	blood:
2	chr8:90836699..90839189-chr8:90853198..90855476,2	MCF-7	breast:
3	chr8:90852614..90855258-chr8:90856891..90858844,2	MCF-7	breast:
4	chr8:90852737..90854940-chr8:90914150..90915970,2	MCF-7	breast:
5	chr8:90816818..90818597-chr8:90852863..90855109,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction
ENSG00000164823	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10094579	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10096271	0.91[ASN][1000 genomes]
rs11785163	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11989430	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12155807	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12675822	0.86[AFR][1000 genomes]
rs12680009	0.86[AFR][1000 genomes]
rs13260987	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13278954	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13280951	0.96[EUR][1000 genomes]
rs16900888	0.94[EUR][1000 genomes]
rs16901016	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2189025	0.90[EUR][1000 genomes]
rs2338882	0.96[EUR][1000 genomes]
rs2338883	0.92[ASN][1000 genomes]
rs28405481	0.95[EUR][1000 genomes]
rs28461337	0.83[EUR][1000 genomes]
rs28528187	0.85[EUR][1000 genomes]
rs28766093	0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2879287	0.93[ASN][1000 genomes]
rs34525502	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34642426	0.98[AFR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34970073	0.96[EUR][1000 genomes]
rs35183880	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62530862	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62530908	0.98[EUR][1000 genomes]
rs6984540	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7013987	0.93[ASN][1000 genomes]
rs7015630	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv2761448	chr8:90837630-90853986	Weak transcription Enhancers Flanking Active TSS Active TSS	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
rs34699769	RIPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90847600-90860600	Weak transcription	Aorta	Aorta
2	chr8:90850200-90853800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:90850200-90853800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:90850200-90853800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:90850200-90853800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:90850200-90853800	Weak transcription	Osteobl	bone
7	chr8:90850200-90860600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:90850400-90854400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:90850400-90860200	Weak transcription	GM12878-XiMat	blood
10	chr8:90850800-90854600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:90852200-90854200	Enhancers	HUVEC	blood vessel
12	chr8:90852200-90854600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:90852200-90854600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr8:90852600-90854200	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:90852600-90854800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:90852800-90853400	Enhancers	Placenta	Placenta
17	chr8:90852800-90855000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:90853000-90853400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:90853200-90854000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:90853200-90854000	Enhancers	A549	lung
21	chr8:90853200-90854000	Enhancers	NHLF	lung
22	chr8:90853200-90854200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:90853200-90854600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:90853200-90854600	Enhancers	NHDF-Ad	bronchial
25	chr8:90853200-90860600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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