Variant report

Variant	rs4895248
Chromosome Location	chr5:119720613-119720614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119719801..119721845-chr5:119723016..119725406,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10036536	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10052468	0.90[EUR][1000 genomes]
rs10058597	0.88[EUR][1000 genomes]
rs10059974	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10072828	0.94[EUR][1000 genomes]
rs1108712	0.90[EUR][1000 genomes]
rs12523485	1.00[CHD][hapmap]
rs13158141	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13161485	0.82[EUR][1000 genomes]
rs13172224	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13435941	0.86[EUR][1000 genomes]
rs1347070	0.90[CEU][hapmap]
rs1368182	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs1368189	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs1368191	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1394115	0.82[EUR][1000 genomes]
rs1432454	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432455	1.00[ASN][1000 genomes]
rs1432456	0.89[EUR][1000 genomes]
rs1432457	0.84[EUR][1000 genomes]
rs1432458	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1524558	1.00[CHD][hapmap]
rs17146501	0.93[EUR][1000 genomes]
rs1835870	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2077726	1.00[CHD][hapmap]
rs2082356	0.83[EUR][1000 genomes]
rs2116606	0.92[EUR][1000 genomes]
rs2897244	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35399227	0.83[EUR][1000 genomes]
rs4499860	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4895155	1.00[ASN][1000 genomes]
rs4895246	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4895247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895249	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4895250	0.82[EUR][1000 genomes]
rs58274987	0.87[EUR][1000 genomes]
rs59264625	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6595225	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6863943	0.87[EUR][1000 genomes]
rs6865215	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs6896794	0.90[EUR][1000 genomes]
rs6899092	0.88[EUR][1000 genomes]
rs72784177	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7379429	0.84[EUR][1000 genomes]
rs7446731	0.80[EUR][1000 genomes]
rs753641	0.83[EUR][1000 genomes]
rs7709140	0.87[EUR][1000 genomes]
rs7713691	0.91[EUR][1000 genomes]
rs7714965	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7718509	0.92[EUR][1000 genomes]
rs7722765	0.87[EUR][1000 genomes]
rs9327141	0.90[EUR][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv527509	chr5:119697716-119724069	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119715400-119723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:119719000-119721000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:119719000-119721600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:119719000-119722600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:119719200-119721600	Weak transcription	Dnd41	blood
6	chr5:119719200-119722400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:119720600-119722600	Weak transcription	HMEC	breast

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