Variant report

Variant	rs72817011
Chromosome Location	chr2:100123461-100123462
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	chr2:100105429..100107219-chr2:100122724..100124347,2	K562	blood:

Variant related genes	Relation type
ENSG00000135945	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10173883	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10175852	0.83[EUR][1000 genomes]
rs10176205	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10179435	0.83[EUR][1000 genomes]
rs10179697	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10180138	0.83[EUR][1000 genomes]
rs10180688	0.81[EUR][1000 genomes]
rs10186223	0.83[EUR][1000 genomes]
rs10207435	0.83[EUR][1000 genomes]
rs10210257	0.83[EUR][1000 genomes]
rs10210346	0.83[EUR][1000 genomes]
rs10496337	0.83[EUR][1000 genomes]
rs13401163	0.81[EUR][1000 genomes]
rs13405400	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13409359	0.83[EUR][1000 genomes]
rs13415713	0.85[EUR][1000 genomes]
rs13416265	0.81[EUR][1000 genomes]
rs13419448	0.83[EUR][1000 genomes]
rs13420087	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13426758	0.81[EUR][1000 genomes]
rs13427424	0.81[EUR][1000 genomes]
rs13429185	0.81[EUR][1000 genomes]
rs13429806	0.83[EUR][1000 genomes]
rs13430962	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13431410	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13432046	0.83[EUR][1000 genomes]
rs1376444	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28369949	0.81[EUR][1000 genomes]
rs28382945	0.81[EUR][1000 genomes]
rs28382947	0.81[EUR][1000 genomes]
rs28745279	0.81[EUR][1000 genomes]
rs3087399	0.83[EUR][1000 genomes]
rs7582085	0.83[EUR][1000 genomes]
rs7582133	0.83[EUR][1000 genomes]
rs7585532	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9308819	0.81[EUR][1000 genomes]
rs9308821	0.83[EUR][1000 genomes]
rs9308822	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9308823	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100120400-100124400	Weak transcription	Stomach Mucosa	stomach
2	chr2:100121600-100123800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:100121800-100124200	Weak transcription	A549	lung

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