Variant report

Variant	rs6823529
Chromosome Location	chr4:110849508-110849509
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11568895	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11568943	0.87[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11568978	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs11569017	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs11569019	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs11569020	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs11569121	0.81[JPT][hapmap]
rs11569126	0.81[JPT][hapmap]
rs11932661	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12374273	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237042	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250724	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255355	0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs2298981	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298982	1.00[CEU][hapmap];0.87[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2298986	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2298996	0.94[CHB][hapmap]
rs2299001	0.81[JPT][hapmap];0.86[TSI][hapmap]
rs2347138	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2881560	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35368137	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35860692	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3733625	0.81[JPT][hapmap]
rs3756261	0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3756262	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3796947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4141078	0.88[CEU][hapmap];0.96[EUR][1000 genomes]
rs57890638	0.83[ASN][1000 genomes]
rs59744250	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61459968	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6533476	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6533477	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6533478	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6533479	0.92[ASN][1000 genomes]
rs6825106	0.87[TSI][hapmap]
rs72894512	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72894516	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7661766	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7661968	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7670908	1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]
rs7699332	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9991367	0.94[CHB][hapmap];0.90[CHD][hapmap];0.86[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap]

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	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv1813951	chr4:110840748-110862637	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6823529	ENPEP	cis	brain	seeQTL
rs6823529	C7orf58	trans	brain	seeQTL
rs6823529	GAS7	trans	brain	seeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110843000-110876200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:110843200-110851000	Weak transcription	Pancreas	Pancrea
3	chr4:110844000-110850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:110849000-110850600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:110849000-110851600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:110849200-110850600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:110849200-110850800	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:110849200-110851000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr4:110849200-110851600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:110849400-110849600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:110849400-110850000	Enhancers	Fetal Heart	heart
12	chr4:110849400-110850200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:110849400-110850400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:110849400-110850600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr4:110849400-110851400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:110849400-110853000	Enhancers	Placenta Amnion	Placenta Amnion

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