Variant report

Variant	rs6857073
Chromosome Location	chr4:152689274-152689275
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	chr4:152689260..152690955-chr4:152700290..152702808,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10001603	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10013612	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10016160	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10222838	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10222925	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11099828	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11099829	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11723227	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331037	0.85[GIH][hapmap]
rs12502446	0.90[ASN][1000 genomes]
rs12503677	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12506000	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12641433	0.96[CEU][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.95[TSI][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12641438	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12641441	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12647420	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12647462	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12647465	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12647616	0.86[EUR][1000 genomes]
rs13108359	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13119490	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13121178	0.80[EUR][1000 genomes]
rs13121190	0.84[EUR][1000 genomes]
rs13139327	0.85[EUR][1000 genomes]
rs13145446	0.80[EUR][1000 genomes]
rs13147021	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1366907	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397683	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1429558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1429559	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17360475	0.85[GIH][hapmap]
rs1877185	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877186	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1877188	0.88[CEU][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2007218	0.83[GIH][hapmap]
rs2089811	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2175409	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2303866	0.94[JPT][hapmap]
rs2406973	0.96[CEU][hapmap];0.84[GIH][hapmap];0.80[JPT][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2406974	0.82[EUR][1000 genomes]
rs28659854	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3749561	0.81[GIH][hapmap]
rs3792691	0.83[GIH][hapmap]
rs3805356	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3828546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4399967	0.85[EUR][1000 genomes]
rs4554052	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4643789	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4696106	0.84[EUR][1000 genomes]
rs4696107	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4696108	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4696109	0.85[GIH][hapmap]
rs4696110	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4696286	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4696287	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4696290	0.81[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4696293	0.81[GIH][hapmap]
rs4696295	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4696296	0.81[ASN][1000 genomes]
rs4696297	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58751443	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59350867	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61308159	0.85[EUR][1000 genomes]
rs6535816	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6535818	0.85[GIH][hapmap]
rs6535819	0.85[GIH][hapmap]
rs6535822	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816002	0.82[EUR][1000 genomes]
rs6847844	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849111	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6855883	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654294	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7669465	0.96[CEU][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7669761	0.96[CEU][hapmap];0.84[GIH][hapmap];0.85[JPT][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7669977	0.85[GIH][hapmap]
rs7675818	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867800	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996320	0.88[EUR][1000 genomes];0.88[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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv4552	chr4:152681211-152702457	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv964732	chr4:152682015-152696175	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6857073	PET112L	cis	parietal	SCAN
rs6857073	FAM160A1	cis	cerebellum	SCAN
rs6857073	PET112L	cis	lymphoblastoid	seeQTL
rs6857073	PET112L	cis	multi-tissue	Pritchard
rs6857073	PET112L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152685600-152693200	Weak transcription	Fetal Brain Female	brain
2	chr4:152689000-152690200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:152689200-152690000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:152689200-152690200	Enhancers	Fetal Brain Male	brain
5	chr4:152689200-152690400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:152689200-152690400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:152689200-152690400	Enhancers	Fetal Heart	heart

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