Variant report

Variant	rs4696293
Chromosome Location	chr4:152707380-152707381
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:152702944..152704784-chr4:152705974..152708845,2	K562	blood:
2	chr4:152704801..152707617-chr4:152718360..152721048,2	K562	blood:
3	chr4:152702944..152705694-chr4:152705974..152709126,4	K562	blood:

Variant related genes	Relation type
ENSG00000249184	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10007015	0.84[EUR][1000 genomes]
rs10007167	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs10019048	0.96[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs10023298	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10028410	0.86[EUR][1000 genomes]
rs10028961	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10049728	0.95[CEU][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10049991	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10776524	0.84[EUR][1000 genomes]
rs1105534	0.84[EUR][1000 genomes]
rs1105535	0.84[EUR][1000 genomes]
rs1105536	0.84[EUR][1000 genomes]
rs11734799	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11932383	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12331037	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12502055	0.95[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs13137669	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13138986	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13146981	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13149588	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1355413	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1366907	0.81[GIH][hapmap]
rs1366909	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs1429559	0.81[GIH][hapmap]
rs1511170	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17027798	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs17360475	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1864300	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1877187	0.96[CEU][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs1896883	0.96[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs2007218	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2007445	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs2089811	0.81[GIH][hapmap]
rs2278304	0.96[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs2303866	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2840130	0.96[CEU][hapmap];0.82[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs28637056	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28710456	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3749561	0.96[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3749563	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs3792691	0.96[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3805356	0.81[GIH][hapmap];0.81[JPT][hapmap]
rs4383600	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4571	0.96[CEU][hapmap];0.83[CHB][hapmap];0.80[GIH][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs4696104	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs4696109	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4696111	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4696283	0.82[EUR][1000 genomes]
rs4696284	0.84[EUR][1000 genomes]
rs4696285	0.93[CEU][hapmap];0.82[GIH][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs4696290	0.81[GIH][hapmap]
rs4696291	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4696294	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4696295	0.85[GIH][hapmap]
rs62327352	0.83[AMR][1000 genomes]
rs6535809	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs6535811	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs6535812	0.96[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs6535813	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs6535814	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6535815	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6535817	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6535818	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6535819	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6535821	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6810860	0.96[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs6817058	0.84[EUR][1000 genomes]
rs6817586	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6818667	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs6823002	0.84[EUR][1000 genomes]
rs6823194	0.84[EUR][1000 genomes]
rs6823421	0.84[EUR][1000 genomes]
rs6823423	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs6823462	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6832562	0.84[EUR][1000 genomes]
rs6833368	0.96[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs6834095	0.96[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs6838966	0.96[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs6839074	0.96[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs6840360	0.96[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs6840678	0.96[CEU][hapmap];0.80[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs6841204	0.96[CEU][hapmap];0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs6841783	0.84[EUR][1000 genomes]
rs6845944	0.83[EUR][1000 genomes]
rs6846114	0.92[CEU][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs6849050	0.96[CEU][hapmap];0.82[GIH][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs7439465	0.96[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs749982	0.84[EUR][1000 genomes]
rs751012	0.84[EUR][1000 genomes]
rs751014	0.84[EUR][1000 genomes]
rs7663045	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7667197	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7669977	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7671651	0.83[EUR][1000 genomes]
rs7684350	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs907237	0.84[EUR][1000 genomes]
rs9307887	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9998462	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4696293	PET112L	cis	Lymphoblastoid	GTEx
rs4696293	FAM160A1	cis	lymphoblastoid	seeQTL
rs4696293	PET112L	cis	multi-tissue	Pritchard
rs4696293	PET112L	cis	lymphoblastoid	seeQTL
rs4696293	PET112L	cis	parietal	SCAN
rs4696293	PET112L	cis	cerebellum	SCAN
rs4696293	SH3D19	cis	cerebellum	SCAN
rs4696293	FAM160A1	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152704600-152708000	Enhancers	Fetal Intestine Small	intestine
2	chr4:152705600-152708000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:152705800-152707600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:152705800-152707800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:152705800-152708000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr4:152705800-152708000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr4:152705800-152708000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:152706000-152707400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:152706400-152708000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:152706600-152707600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:152706800-152707600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:152707000-152707800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:152707000-152710600	Weak transcription	Fetal Heart	heart
14	chr4:152707200-152707600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:152707200-152707600	Enhancers	HUES6 Cell Line	embryonic stem cell

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