Variant report

Variant	rs7042410
Chromosome Location	chr9:21449852-21449853
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10811544	0.86[AFR][1000 genomes]
rs10964996	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10965003	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10965004	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1332190	0.81[AFR][1000 genomes]
rs2383191	0.81[AFR][1000 genomes]
rs3861009	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6475535	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7861480	0.82[AMR][1000 genomes]
rs7869107	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7869315	0.90[AFR][1000 genomes]

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	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	esv2752289	chr9:21361957-21499624	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv466297	chr9:21391698-21507589	Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv613758	chr9:21391698-21507589	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv892739	chr9:21407250-21470520	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv972301	chr9:21449393-21450058	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21447000-21450800	Weak transcription	Colon Smooth Muscle	Colon
2	chr9:21447400-21450800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr9:21448400-21455400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:21449200-21450400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:21449200-21450400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:21449200-21450800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:21449400-21453800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:21449600-21451400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:21449600-21453800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:21449800-21450000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:21449800-21450000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr9:21449800-21451000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:21449800-21453800	Weak transcription	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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