Variant report

Variant	rs2287495
Chromosome Location	chr14:79111432-79111433
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1035612	1.00[AFR][1000 genomes]
rs10483908	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10483912	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12586229	1.00[AFR][1000 genomes]
rs12587427	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12588327	1.00[AFR][1000 genomes]
rs12588444	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs12590740	1.00[EUR][1000 genomes]
rs12590819	0.87[GIH][hapmap]
rs1509152	1.00[ASW][hapmap]
rs17107869	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17107885	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17107887	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17107898	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17107907	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17107912	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17107930	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17107978	1.00[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs17107986	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17107993	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108011	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs17108021	1.00[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17108027	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17108040	0.94[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17108073	1.00[AFR][1000 genomes]
rs17108078	1.00[AFR][1000 genomes]
rs17108121	1.00[ASW][hapmap]
rs3919592	1.00[ASW][hapmap]
rs55853427	0.96[ASN][1000 genomes]
rs56658384	1.00[AFR][1000 genomes]
rs56813549	1.00[AFR][1000 genomes]
rs57014620	0.82[ASN][1000 genomes]
rs57388154	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs57416351	0.93[ASN][1000 genomes]
rs58271165	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58355788	1.00[AFR][1000 genomes]
rs58525848	1.00[AFR][1000 genomes]
rs59354957	1.00[AFR][1000 genomes]
rs59887424	0.99[ASN][1000 genomes]
rs60118334	1.00[AFR][1000 genomes]
rs60238041	0.87[EUR][1000 genomes]
rs60568650	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61393149	0.93[ASN][1000 genomes]
rs61976092	0.93[ASN][1000 genomes]
rs61976120	0.99[ASN][1000 genomes]
rs6574456	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6574459	0.96[ASN][1000 genomes]
rs7142533	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7148807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7153070	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7153811	1.00[EUR][1000 genomes]
rs74064325	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8003025	1.00[AFR][1000 genomes]
rs8012296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017659	0.94[ASN][1000 genomes]
rs8019422	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9646166	0.82[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][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	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	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79108200-79123600	Weak transcription	Brain Germinal Matrix	brain
2	chr14:79111000-79111800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:79111000-79111800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:79111000-79111800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:79111200-79111600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:79111200-79111600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:79111200-79111800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr14:79111200-79111800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr14:79111400-79123200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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