Variant report

Variant	rs7595242
Chromosome Location	chr2:100113278-100113279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100106165..100109340-chr2:100112910..100115092,3	K562	blood:
2	chr2:100105839..100108268-chr2:100110978..100113456,2	K562	blood:

Variant related genes	Relation type
ENSG00000135945	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17022741	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17022788	0.83[EUR][1000 genomes]
rs2167339	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3087387	1.00[AMR][1000 genomes]
rs56684522	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093686	1.00[AMR][1000 genomes]
rs57599963	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57668619	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57969550	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58226642	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58780429	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59311105	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59753430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59859749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60633946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707685	1.00[AMR][1000 genomes]
rs6723062	1.00[AMR][1000 genomes]
rs6745673	0.83[EUR][1000 genomes]
rs6761053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964149	0.93[AFR][1000 genomes]
rs73964150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964151	0.83[AMR][1000 genomes]
rs73964152	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964157	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964158	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73964166	0.83[EUR][1000 genomes]
rs7568990	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7570405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571186	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1806302	chr2:100094799-100123030	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100107600-100119600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:100112200-100113600	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr2:100112800-100115600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:100113200-100113600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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