Variant report

Variant	rs2445701
Chromosome Location	chr8:95347897-95347898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10956912	0.88[ASN][1000 genomes]
rs11778733	0.88[ASN][1000 genomes]
rs11786007	0.88[ASN][1000 genomes]
rs2244209	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2255130	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2263133	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445698	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445702	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2445713	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2448907	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2448914	0.88[ASN][1000 genomes]
rs2448915	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2450248	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2450249	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2450550	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2450551	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450552	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2450555	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450560	0.89[ASN][1000 genomes]
rs2450562	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2450563	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2450564	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2450565	0.93[ASN][1000 genomes]
rs2450566	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2450571	0.89[ASN][1000 genomes]
rs2450574	0.87[ASN][1000 genomes]
rs2450576	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450577	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2450579	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2470727	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470729	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470730	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2470734	0.89[ASN][1000 genomes]
rs2470736	0.89[ASN][1000 genomes]
rs2470737	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2470738	0.82[ASN][1000 genomes]
rs2470741	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2470743	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2470744	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2470745	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2470747	0.89[ASN][1000 genomes]
rs2515097	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515101	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2515102	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515104	0.89[ASN][1000 genomes]
rs2515105	0.89[ASN][1000 genomes]
rs2515106	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2515109	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2515119	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515120	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515121	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515122	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515132	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515142	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2515151	0.87[ASN][1000 genomes]
rs2515152	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515158	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2515159	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515160	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515162	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515163	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515164	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2515166	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2515168	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28503419	0.87[ASN][1000 genomes]
rs3098702	0.87[ASN][1000 genomes]
rs3098704	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3136400	0.89[ASN][1000 genomes]
rs3136407	0.89[ASN][1000 genomes]
rs3136414	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56303696	0.88[ASN][1000 genomes]
rs7007534	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs882521	0.89[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	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95344000-95352400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:95346400-95348000	Weak transcription	NHLF	lung
3	chr8:95346600-95348000	Weak transcription	NHDF-Ad	bronchial
4	chr8:95347200-95348200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:95347400-95348000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:95347400-95348200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:95347400-95355400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:95347600-95348200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:95347800-95348000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:95347800-95348000	Active TSS	A549	lung

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