Variant report

Variant	rs12511713
Chromosome Location	chr4:159026828-159026829
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10022190	0.95[ASN][1000 genomes]
rs13101806	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13105388	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13105599	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13119344	0.90[AMR][1000 genomes]
rs13123367	0.82[AMR][1000 genomes]
rs13128845	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13149552	0.95[ASN][1000 genomes]
rs17036867	0.86[AMR][1000 genomes]
rs17036927	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2346319	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs28717075	0.95[ASN][1000 genomes]
rs34009182	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34030902	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34131483	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34387852	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34535065	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34735033	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34765608	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs35346320	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35439222	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35465944	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35473373	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35518318	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs36069561	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4569796	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5004547	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62337011	0.93[AFR][1000 genomes]
rs6536292	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6846661	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs71607171	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7437833	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7664258	0.95[ASN][1000 genomes]
rs7664738	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7665295	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7687980	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7691126	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1030124	chr4:158758675-159251140	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv881288	chr4:158891733-159028080	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1021067	chr4:158972282-159175475	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv880293	chr4:159012365-159049020	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	esv3418573	chr4:159024052-159029950	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3339313	chr4:159026327-159029075	Weak transcription	n/a	n/a	inside rSNPs	diseases
8	esv3340432	chr4:159026402-159029850	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
9	esv3355949	chr4:159026802-159030100	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159018600-159030000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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