Variant report

Variant	rs42345
Chromosome Location	chr8:90826768-90826769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:90824515..90827081-chr8:90836313..90840458,3	MCF-7	breast:
2	chr8:90768759..90772975-chr8:90825090..90828579,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251136	Chromatin interaction
ENSG00000104312	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11989430	0.81[ASN][1000 genomes]
rs13280951	0.86[ASN][1000 genomes]
rs2338882	0.86[ASN][1000 genomes]
rs28144	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28405481	0.81[ASN][1000 genomes]
rs28461337	0.86[ASN][1000 genomes]
rs2975240	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs368812	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs369771	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs370282	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs376110	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs394108	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39515	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39516	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs39767	0.91[EUR][1000 genomes]
rs39768	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs39769	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs402434	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs40381	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40382	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40457	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40458	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs40547	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs40636	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs40637	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40638	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs40639	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs421411	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs422559	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs42346	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs43135	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs43226	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs43227	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs43228	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs435600	0.82[EUR][1000 genomes]
rs438485	0.95[AFR][1000 genomes]
rs441548	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs445172	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs445675	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs447611	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs452694	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs453266	0.82[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs454561	0.80[AFR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62530862	0.85[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	nsv972243	chr8:90823430-90834708	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
5	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs42345	RP11-37B2.1	cis	Skin Sun Exposed Lower leg	GTEx
rs42345	RP11-37B2.1	cis	Adipose Subcutaneous	GTEx
rs42345	RIPK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
2	chr8:90824000-90836600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:90825400-90829400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:90825600-90827200	Weak transcription	A549	lung
5	chr8:90825600-90827600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:90825600-90829000	Weak transcription	NH-A	brain
7	chr8:90825800-90827200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:90825800-90827200	Weak transcription	NHEK	skin
9	chr8:90825800-90829000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:90826000-90826800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:90826000-90828800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:90826200-90827200	Weak transcription	NHDF-Ad	bronchial
13	chr8:90826200-90828800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:90826600-90827000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:90826600-90827000	Weak transcription	Osteobl	bone

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