Variant report

Variant	rs348444
Chromosome Location	chr5:100785826-100785827
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11960408	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13360352	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1602425	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs189489	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs348400	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs348401	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs348402	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs348403	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs348422	0.83[ASN][1000 genomes]
rs348423	0.83[ASN][1000 genomes]
rs348424	0.82[ASN][1000 genomes]
rs348433	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs348434	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs348435	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs348436	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs350527	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs350528	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs369366	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3912284	0.89[CHB][hapmap]
rs395739	0.83[ASN][1000 genomes]
rs412159	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs412683	0.84[ASN][1000 genomes]
rs453785	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs456512	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs460812	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs463792	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs466664	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7720007	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528811	chr5:100424081-101218087	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1032191	chr5:100455166-100852106	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv516292	chr5:100490972-100925684	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv882479	chr5:100587626-100941372	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv599179	chr5:100609923-100826324	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2755981	chr5:100633738-100830395	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv882490	chr5:100640721-100826324	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1024075	chr5:100756024-100822258	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv432792	chr5:100756024-100867529	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv882491	chr5:100767951-100837326	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2760962	chr5:100776199-101485581	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv882492	chr5:100776941-100839388	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs348444	ITGB2	trans	lymphoblastoid	seeQTL
rs348444	FAM83F	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100785600-100786400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr5:100785800-100786000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:100785800-100786000	Enhancers	NHDF-Ad	bronchial
4	chr5:100785800-100786200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:100785800-100786400	Enhancers	H9 Cell Line	embryonic stem cell
6	chr5:100785800-100786400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:100785800-100787000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:100785800-100787200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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