Variant report

Variant	rs8019422
Chromosome Location	chr14:79108326-79108327
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	chr14:79106910..79108695-chr14:79111511..79114093,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10483908	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10483909	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10483910	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10483911	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10483912	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12587427	0.93[ASN][1000 genomes]
rs1558954	1.00[CEU][hapmap]
rs17094080	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17107907	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17107912	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17107930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17107940	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17107945	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17107950	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17107955	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17107963	1.00[CEU][hapmap]
rs17107972	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs17107978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17107982	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17107986	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17107993	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17107998	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17108011	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17108021	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17108027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17108040	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17757034	1.00[CEU][hapmap]
rs17835469	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2287495	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55853427	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57014620	0.82[ASN][1000 genomes]
rs57416351	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57609667	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs58271165	0.93[ASN][1000 genomes]
rs59429125	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59887424	0.99[ASN][1000 genomes]
rs60339939	0.85[EUR][1000 genomes]
rs60568650	0.94[ASN][1000 genomes]
rs61393149	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61976092	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61976094	0.81[EUR][1000 genomes]
rs61976101	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61976102	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61976103	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61976104	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61976112	0.82[EUR][1000 genomes]
rs61976113	0.82[EUR][1000 genomes]
rs61976114	0.82[EUR][1000 genomes]
rs61976115	0.82[EUR][1000 genomes]
rs61976117	0.85[EUR][1000 genomes]
rs61976118	0.85[EUR][1000 genomes]
rs61976119	0.85[EUR][1000 genomes]
rs61976120	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61976134	0.85[EUR][1000 genomes]
rs61976135	0.85[EUR][1000 genomes]
rs61976136	0.85[EUR][1000 genomes]
rs61976137	0.85[EUR][1000 genomes]
rs61976139	0.85[EUR][1000 genomes]
rs61976140	0.81[EUR][1000 genomes]
rs61976142	0.85[EUR][1000 genomes]
rs6574456	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574459	0.96[ASN][1000 genomes]
rs7142533	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7153070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs72683565	0.81[EUR][1000 genomes]
rs72683567	0.85[EUR][1000 genomes]
rs74064325	0.91[ASN][1000 genomes]
rs8017659	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9646166	1.00[JPT][hapmap];0.93[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	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
3	esv34435	chr14:79055398-79111151	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv2757578	chr14:79055398-79140536	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79106000-79111000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr14:79106200-79111000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr14:79106200-79111000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:79106200-79111000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:79106200-79111200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:79106200-79111200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:79108200-79123600	Weak transcription	Brain Germinal Matrix	brain

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