Variant report

Variant	rs13024803
Chromosome Location	chr2:151077809-151077810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10170246	0.83[EUR][1000 genomes]
rs10179582	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10207680	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1031212	0.85[CEU][hapmap];0.87[TSI][hapmap]
rs1031215	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10930038	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1155072	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11682154	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11694747	0.82[EUR][1000 genomes]
rs12692644	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12986816	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12996112	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13028397	0.83[EUR][1000 genomes]
rs13430267	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4283445	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4295034	0.96[CEU][hapmap];0.94[YRI][hapmap];0.82[EUR][1000 genomes]
rs4318407	0.83[EUR][1000 genomes]
rs4434022	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs4435478	0.85[EUR][1000 genomes]
rs4461280	0.82[EUR][1000 genomes]
rs4464296	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4597552	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4629182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6432680	0.92[ASW][hapmap];0.96[CEU][hapmap];0.84[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6432700	0.82[CEU][hapmap];0.87[TSI][hapmap]
rs7566441	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7569176	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7581723	0.85[CEU][hapmap]
rs7586530	0.96[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv834412	chr2:151014270-151116638	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv2968	chr2:151076820-151089705	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13024803	UCHL1	trans	lymphoblastoid	seeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151072000-151078800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:151073000-151078800	Weak transcription	Fetal Lung	lung
3	chr2:151073400-151078600	Weak transcription	Stomach Mucosa	stomach
4	chr2:151077400-151078200	Weak transcription	Brain Germinal Matrix	brain

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