Variant report

Variant	rs7695162
Chromosome Location	chr4:152510541-152510542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10007015	0.93[EUR][1000 genomes]
rs10007167	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs10019048	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs10023298	0.81[EUR][1000 genomes]
rs10028410	0.90[EUR][1000 genomes]
rs10028961	0.81[EUR][1000 genomes]
rs10049728	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs10049991	0.81[EUR][1000 genomes]
rs10776524	0.93[EUR][1000 genomes]
rs1105534	0.93[EUR][1000 genomes]
rs1105535	0.93[EUR][1000 genomes]
rs1105536	0.93[EUR][1000 genomes]
rs12331037	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs12502055	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.93[EUR][1000 genomes]
rs1355413	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs1366909	1.00[CEU][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1372978	0.80[EUR][1000 genomes]
rs1561915	0.81[EUR][1000 genomes]
rs17027798	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[EUR][1000 genomes]
rs17360475	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1877187	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs1896883	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[EUR][1000 genomes]
rs1946999	0.80[EUR][1000 genomes]
rs2007218	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2007445	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.93[EUR][1000 genomes]
rs2278304	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs2303866	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs2840130	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs28637056	0.82[EUR][1000 genomes]
rs28710456	0.81[EUR][1000 genomes]
rs3749561	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3749563	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs3792691	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3919716	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4571	1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[EUR][1000 genomes]
rs4696104	0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.93[EUR][1000 genomes]
rs4696109	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs4696111	0.81[EUR][1000 genomes]
rs4696277	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4696283	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4696284	0.93[EUR][1000 genomes]
rs4696285	0.96[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs4696291	0.85[EUR][1000 genomes]
rs4696293	0.96[CEU][hapmap]
rs55668815	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6535809	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6535811	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs6535812	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs6535813	1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[EUR][1000 genomes]
rs6535814	0.90[EUR][1000 genomes]
rs6535815	0.90[EUR][1000 genomes]
rs6535817	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs6535818	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs6535819	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6535821	0.89[CEU][hapmap]
rs6810860	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs6814554	0.80[EUR][1000 genomes]
rs6817058	0.93[EUR][1000 genomes]
rs6817586	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs6818667	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.93[EUR][1000 genomes]
rs6823002	0.93[EUR][1000 genomes]
rs6823194	0.93[EUR][1000 genomes]
rs6823421	0.93[EUR][1000 genomes]
rs6823423	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs6825241	0.84[EUR][1000 genomes]
rs6832562	0.93[EUR][1000 genomes]
rs6833368	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs6834095	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs6838966	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs6839074	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs6840360	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs6840678	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs6841204	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[EUR][1000 genomes]
rs6841783	0.93[EUR][1000 genomes]
rs6845944	0.92[EUR][1000 genomes]
rs6846114	0.96[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs6849050	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[EUR][1000 genomes]
rs73862064	0.86[EUR][1000 genomes]
rs7439465	1.00[CEU][hapmap];0.87[CHB][hapmap];0.92[EUR][1000 genomes]
rs749982	0.93[EUR][1000 genomes]
rs751012	0.93[EUR][1000 genomes]
rs751014	0.93[EUR][1000 genomes]
rs7663045	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7667197	0.89[EUR][1000 genomes]
rs7669977	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7671651	0.92[EUR][1000 genomes]
rs7680604	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7684350	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs907237	0.93[EUR][1000 genomes]
rs9998462	0.83[EUR][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	nsv880262	chr4:151712054-152519899	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv880624	chr4:152280646-152549112	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv881342	chr4:152363772-152560449	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830114	chr4:152401288-152548606	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7695162	PET112L	cis	multi-tissue	Pritchard

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152476600-152526600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:152484800-152518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:152491200-152519000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:152496600-152526600	Weak transcription	Gastric	stomach
5	chr4:152496800-152530000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:152498000-152513600	Weak transcription	Ovary	ovary
7	chr4:152499200-152511800	Weak transcription	Aorta	Aorta
8	chr4:152499200-152521200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:152499200-152567600	Weak transcription	Pancreas	Pancrea
10	chr4:152500000-152511600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:152504600-152525400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:152505800-152526200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:152506200-152511400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:152506200-152521200	Weak transcription	HMEC	breast
15	chr4:152507200-152521000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:152507400-152521000	Weak transcription	NHEK	skin
17	chr4:152507800-152521400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:152508000-152532200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:152508600-152523600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:152508800-152522400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:152509600-152511800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:152509600-152512000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:152509800-152511400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:152510400-152522800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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