Variant report

Variant	rs425140
Chromosome Location	chr8:90864625-90864626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90859420..90866965-chr8:90912674..90917180,23	MCF-7	breast:
2	chr8:90811959..90814919-chr8:90863666..90865460,3	MCF-7	breast:
3	chr8:90858582..90866507-chr8:90866541..90873248,10	MCF-7	breast:
4	chr8:90861478..90863438-chr8:90864534..90866909,2	MCF-7	breast:
5	chr8:90864006..90868898-chr8:90869518..90873896,4	K562	blood:
6	chr8:90864006..90868898-chr8:90869518..90873802,5	K562	blood:
7	chr8:90859033..90864870-chr8:90912637..90916570,15	MCF-7	breast:
8	chr8:90860679..90862898-chr8:90864045..90867127,3	K562	blood:
9	chr8:90856651..90860319-chr8:90861646..90865925,3	K562	blood:
10	chr8:90855177..90868995-chr8:90994125..91001070,26	MCF-7	breast:
11	chr8:90862840..90866421-chr8:90892520..90896963,6	MCF-7	breast:
12	chr8:90862866..90864665-chr8:90970595..90972390,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164823	Chromatin interaction
ENSG00000207359	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12675822	0.84[ASN][1000 genomes]
rs12679902	0.84[ASN][1000 genomes]
rs12680009	0.84[ASN][1000 genomes]
rs13277948	0.84[ASN][1000 genomes]
rs2189025	0.83[ASN][1000 genomes]
rs365871	0.90[EUR][1000 genomes]
rs366867	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs367640	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370282	0.81[JPT][hapmap]
rs376962	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs377897	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs379015	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs380425	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs381456	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs386587	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs386857	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs388866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs390536	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs398959	0.85[EUR][1000 genomes]
rs400571	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs40250	0.91[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs40459	0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[ASN][1000 genomes]
rs40547	0.81[JPT][hapmap]
rs40638	0.81[JPT][hapmap]
rs410577	0.90[EUR][1000 genomes]
rs410663	0.89[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs418634	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs419890	0.94[ASN][1000 genomes]
rs42186	0.94[ASN][1000 genomes]
rs42346	0.81[JPT][hapmap]
rs42481	0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs427854	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs432457	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447989	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs425140	OSGIN2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90861000-90866600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:90861000-90868400	Weak transcription	Ovary	ovary
3	chr8:90861000-90870200	Weak transcription	HMEC	breast
4	chr8:90861000-90871000	Weak transcription	Right Atrium	heart
5	chr8:90861200-90865000	Enhancers	A549	lung
6	chr8:90861200-90869600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:90861200-90869800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:90861400-90869000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:90861600-90868200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:90861600-90868200	Weak transcription	HSMM	muscle
11	chr8:90861800-90869200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:90861800-90869200	Weak transcription	Brain Anterior Caudate	brain
13	chr8:90861800-90870200	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:90864600-90864800	Enhancers	Aorta	Aorta
15	chr8:90864600-90864800	Enhancers	Placenta Amnion	Placenta Amnion

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