Variant report

Variant	rs7718117
Chromosome Location	chr5:74559364-74559365
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16872433	0.88[YRI][hapmap]
rs16872437	0.88[YRI][hapmap]
rs16872461	0.89[ASW][hapmap];0.88[YRI][hapmap]
rs73116834	0.88[AFR][1000 genomes]
rs73116878	0.98[AFR][1000 genomes]
rs73131072	0.88[AFR][1000 genomes]
rs7726659	0.87[ASW][hapmap];0.88[YRI][hapmap]

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	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2758000	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2759350	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74557000-74561400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:74558400-74559400	Enhancers	Duodenum Mucosa	Duodenum
3	chr5:74558600-74561400	Weak transcription	Stomach Mucosa	stomach
4	chr5:74559000-74561200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:74559000-74561200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:74559200-74561400	Weak transcription	Fetal Intestine Small	intestine
7	chr5:74559200-74568200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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