Variant report

Variant	rs17499770
Chromosome Location	chr7:26998435-26998436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17150529	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17464349	0.87[AMR][1000 genomes]
rs17464370	0.87[AMR][1000 genomes]
rs17465125	0.89[YRI][hapmap]
rs17499539	0.87[AMR][1000 genomes]
rs17499546	0.87[AMR][1000 genomes]
rs17499791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17499840	0.89[AFR][1000 genomes]
rs17499847	1.00[AFR][1000 genomes]
rs2088587	0.87[AMR][1000 genomes]
rs58221865	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60974294	0.85[AFR][1000 genomes]
rs6945174	0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7780915	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1033272	chr7:26976426-27020206	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26991600-26999200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:26997800-26999600	Enhancers	HMEC	breast
3	chr7:26997800-26999600	Enhancers	NHEK	skin
4	chr7:26997800-27000000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr7:26998000-26999200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:26998000-26999200	Enhancers	NHLF	lung
7	chr7:26998000-26999400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:26998000-26999400	Enhancers	HUVEC	blood vessel
9	chr7:26998000-27000000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr7:26998000-27000200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:26998000-27000200	Enhancers	NHDF-Ad	bronchial
12	chr7:26998400-26998600	Active TSS	A549	lung
13	chr7:26998400-26999200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr7:26998400-26999200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:26998400-26999400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:26998400-26999400	Enhancers	Osteobl	bone
17	chr7:26998400-26999600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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

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