Variant report

Variant	rs2192416
Chromosome Location	chr14:78949997-78949998
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	chr14:78948422..78950339-chr14:78950508..78953460,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10129570	1.00[CEU][hapmap]
rs10134028	1.00[CEU][hapmap]
rs10140699	1.00[CEU][hapmap]
rs1124299	0.82[CHB][hapmap]
rs11851070	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12434281	1.00[CEU][hapmap]
rs12435130	1.00[CEU][hapmap]
rs12435691	1.00[CEU][hapmap]
rs12436458	1.00[CEU][hapmap]
rs12892860	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12894903	0.91[EUR][1000 genomes]
rs17107429	0.87[CEU][hapmap]
rs17107436	0.87[CEU][hapmap]
rs17107446	0.87[CEU][hapmap]
rs17107534	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs17107573	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs17107653	0.81[JPT][hapmap]
rs17107725	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17107847	0.85[CEU][hapmap]
rs1861081	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2110420	0.95[CHB][hapmap]
rs2110421	0.87[ASN][1000 genomes]
rs214016	0.85[CEU][hapmap]
rs214028	0.87[CEU][hapmap]
rs214029	0.87[CEU][hapmap]
rs214030	0.87[CEU][hapmap]
rs214031	0.87[CEU][hapmap]
rs2215835	0.87[CEU][hapmap]
rs2215836	0.86[CEU][hapmap]
rs2215838	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2366100	0.82[ASN][1000 genomes]
rs4899715	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7147592	1.00[CEU][hapmap]
rs7152492	1.00[CEU][hapmap]
rs724373	0.82[TSI][hapmap];0.91[EUR][1000 genomes]
rs73316490	0.91[EUR][1000 genomes]
rs8006094	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs8009240	0.85[CEU][hapmap]
rs8012563	0.95[CHB][hapmap]
rs9323666	1.00[CEU][hapmap]
rs995265	1.00[CHB][hapmap];0.91[CHD][hapmap];0.82[GIH][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2760000	chr14:78875607-79173528	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2758363	chr14:78903610-79173528	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78942800-78950600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:78946000-78950600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:78946200-78951600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr14:78949600-78951800	Enhancers	Brain Germinal Matrix	brain

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