Variant report

Variant	rs6870481
Chromosome Location	chr5:17025318-17025319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11133874	0.84[AMR][1000 genomes]
rs11949240	0.84[AMR][1000 genomes]
rs12188082	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12188117	0.86[AMR][1000 genomes]
rs12653307	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12653885	0.86[AMR][1000 genomes]
rs12656574	0.86[AMR][1000 genomes]
rs12656967	0.87[AMR][1000 genomes]
rs12657953	0.86[AMR][1000 genomes]
rs13155583	0.83[AMR][1000 genomes]
rs34640495	0.87[AMR][1000 genomes]
rs66495706	0.84[AMR][1000 genomes]
rs66533091	0.84[AMR][1000 genomes]
rs6891043	0.83[AMR][1000 genomes]
rs7702546	0.84[AMR][1000 genomes]
rs7702707	0.83[AMR][1000 genomes]
rs7708482	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3510797	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3510798	chr5:16966764-17125849	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1795984	chr5:16973769-17078295	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv1796588	chr5:17000364-17033610	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1017222	chr5:17001819-17133274	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1021972	chr5:17011758-17091878	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17017800-17025600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:17024600-17025600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:17024600-17025600	Enhancers	Hela-S3	cervix
4	chr5:17024600-17025600	Enhancers	NHEK	skin
5	chr5:17024800-17025400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:17024800-17025400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:17024800-17025400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:17024800-17025400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:17024800-17025400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:17024800-17025400	Enhancers	HMEC	breast
11	chr5:17024800-17025600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:17024800-17025800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:17025000-17026400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr5:17025200-17025600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:17025200-17025600	Enhancers	A549	lung

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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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