Variant report

Variant	rs10500102
Chromosome Location	chr7:124744624-124744625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124738749..124741628-chr7:124743456..124745788,2	K562	blood:
2	chr7:124735275..124737095-chr7:124743479..124745063,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1020629	0.94[CHB][hapmap];0.89[CHD][hapmap];0.87[MEX][hapmap]
rs10256073	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs10266152	0.94[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap]
rs1031952	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10954061	0.94[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap]
rs11761435	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs11767519	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs11771004	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11771079	0.94[CHB][hapmap]
rs1248737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12531213	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12706627	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs1357971	0.84[AMR][1000 genomes]
rs1404897	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs1471570	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs1525620	0.81[CEU][hapmap];0.84[CHB][hapmap];0.92[GIH][hapmap]
rs1552116	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs1552117	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap]
rs1568882	0.97[ASN][1000 genomes]
rs17147723	0.94[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap]
rs17147889	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2291207	0.80[CHB][hapmap];0.85[CHD][hapmap]
rs2929321	0.95[ASN][1000 genomes]
rs2929322	0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2968868	0.95[ASN][1000 genomes]
rs34246481	0.94[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap]
rs590516	0.90[ASN][1000 genomes]
rs598102	0.98[ASN][1000 genomes]
rs612391	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs625037	0.92[ASN][1000 genomes]
rs627823	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs650653	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs651988	0.94[CHB][hapmap];0.82[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs659269	0.83[ASN][1000 genomes]
rs663056	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs664062	0.94[CHB][hapmap];0.86[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs669273	0.98[ASN][1000 genomes]
rs670910	1.00[ASN][1000 genomes]
rs671359	1.00[ASN][1000 genomes]
rs6965957	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7797011	0.94[CHB][hapmap]
rs967297	0.94[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap]
rs9785002	0.94[CHB][hapmap]
rs9942625	0.93[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv889139	chr7:124600505-124767295	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv464708	chr7:124703756-124805279	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv608344	chr7:124703756-124805279	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv831119	chr7:124714009-124890119	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10500102	POT1	cis	cerebellum	SCAN
rs10500102	TMEM229A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124739800-124776000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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