Variant report

Variant	rs2695111
Chromosome Location	chr2:178794991-178794992
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:178794941-178795141	K562	blood:	n/a	n/a
2	TCF7L2	chr2:178794495-178795173	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178787400..178789343-chr2:178793687..178796029,2	K562	blood:

Variant related genes	Relation type
PDE11A	TF binding region
ENSG00000128655	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10930814	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12463866	0.89[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12469439	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12615720	0.80[ASN][1000 genomes]
rs1369519	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1369520	0.92[YRI][hapmap];0.83[ASN][1000 genomes]
rs1405643	0.85[CEU][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1405644	0.85[CEU][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1405645	0.80[ASN][1000 genomes]
rs1405646	0.89[CEU][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1435575	0.88[CEU][hapmap];0.92[YRI][hapmap]
rs1534290	0.84[CEU][hapmap];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16865995	0.84[CEU][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16866042	0.81[CEU][hapmap]
rs1821628	0.83[ASN][1000 genomes]
rs1880915	0.89[CEU][hapmap];0.91[YRI][hapmap]
rs2020213	0.91[YRI][hapmap]
rs2037757	0.88[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2099476	0.85[CEU][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2217839	0.80[ASN][1000 genomes]
rs2252726	0.92[YRI][hapmap]
rs2573080	0.91[YRI][hapmap];0.83[ASN][1000 genomes]
rs2573081	0.83[ASN][1000 genomes]
rs2573083	0.91[YRI][hapmap]
rs2573088	0.91[YRI][hapmap];0.82[ASN][1000 genomes]
rs2695094	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2695103	0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs2695104	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2695112	0.92[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2695729	0.89[CEU][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2695735	0.85[CEU][hapmap];1.00[YRI][hapmap]
rs2695738	0.93[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2695744	0.92[YRI][hapmap]
rs2695745	1.00[YRI][hapmap]
rs2695747	1.00[YRI][hapmap]
rs2695750	0.91[YRI][hapmap]
rs2695752	0.92[YRI][hapmap]
rs2695754	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2695760	0.82[ASN][1000 genomes]
rs3108453	0.93[CEU][hapmap];1.00[YRI][hapmap]
rs3108476	0.89[CEU][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3770051	0.89[CEU][hapmap]
rs6433705	1.00[YRI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6743194	0.85[CEU][hapmap]
rs6753870	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7573622	0.85[CEU][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs934807	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs959157	0.81[CEU][hapmap]
rs959792	1.00[YRI][hapmap]

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	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178794800-178795000	Weak transcription	Fetal Heart	heart

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