Variant report

Variant	rs2573085
Chromosome Location	chr2:178836333-178836334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178834171..178836909-chr2:178857022..178858774,2	K562	blood:
2	chr2:178825449..178829644-chr2:178831703..178836480,4	K562	blood:
3	chr2:178823421..178826085-chr2:178834912..178837926,3	K562	blood:
4	chr2:178681561..178684546-chr2:178836153..178838637,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10930814	0.80[CHD][hapmap];0.82[JPT][hapmap]
rs11695211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12463866	0.82[JPT][hapmap]
rs12469439	0.84[ASN][1000 genomes]
rs12615720	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1369519	0.84[ASN][1000 genomes]
rs1369520	0.83[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1405645	0.83[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1405646	0.83[CHD][hapmap];0.84[ASN][1000 genomes]
rs1435575	0.82[JPT][hapmap]
rs1821628	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1880915	0.89[CHD][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap]
rs2020213	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2037757	0.82[CHD][hapmap];0.82[JPT][hapmap];0.93[MKK][hapmap]
rs2217839	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2252726	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2573080	0.82[ASW][hapmap];0.83[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2573081	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2573083	0.82[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.86[LWK][hapmap];0.97[MKK][hapmap];0.93[TSI][hapmap]
rs2573088	0.82[ASW][hapmap];0.83[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2695094	0.82[JPT][hapmap]
rs2695103	0.81[ASW][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2695104	0.84[ASN][1000 genomes]
rs2695112	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs2695729	0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs2695735	0.87[CHD][hapmap];0.82[JPT][hapmap];1.00[MKK][hapmap]
rs2695738	0.82[JPT][hapmap]
rs2695743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2695746	0.87[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2695750	0.82[ASW][hapmap];0.83[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap]
rs2695752	1.00[JPT][hapmap]
rs2695760	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3108453	0.82[JPT][hapmap]
rs3108476	0.82[JPT][hapmap]
rs6433705	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs6745288	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7604345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs934807	0.82[JPT][hapmap]
rs966433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2573085	FKBP7	cis	parietal	SCAN
rs2573085	SP3	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178834600-178837600	Enhancers	HepG2	liver
2	chr2:178835600-178836800	Enhancers	Stomach Mucosa	stomach
3	chr2:178836200-178836400	Flanking Active TSS	Liver	Liver

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