Variant report

Variant	rs4267872
Chromosome Location	chr5:17081175-17081176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10063043	0.96[AFR][1000 genomes]
rs10072683	0.84[AFR][1000 genomes]
rs10078074	0.97[AFR][1000 genomes]
rs11948044	0.94[AFR][1000 genomes]
rs4267873	1.00[AFR][1000 genomes]
rs4289559	0.81[AFR][1000 genomes]
rs4314398	1.00[AFR][1000 genomes]
rs4337854	0.87[AFR][1000 genomes]
rs4348214	0.81[AFR][1000 genomes]
rs4360043	0.84[AFR][1000 genomes]
rs4583886	1.00[AFR][1000 genomes]
rs4702200	1.00[AFR][1000 genomes]
rs6554976	1.00[AFR][1000 genomes]
rs6554977	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6554980	1.00[AFR][1000 genomes]
rs6888500	0.86[AFR][1000 genomes]
rs6894481	1.00[AFR][1000 genomes]
rs7727203	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
7	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
8	nsv1026025	chr5:17039665-17195440	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1027435	chr5:17068441-17095350	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv969212	chr5:17070735-17098476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv327670	chr5:17078843-17085787	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17075800-17081400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:17079800-17082200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:17080000-17081200	Weak transcription	Fetal Kidney	kidney
4	chr5:17080000-17081600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:17080000-17082200	Enhancers	NHDF-Ad	bronchial
6	chr5:17080400-17081400	Enhancers	A549	lung
7	chr5:17080400-17081600	Enhancers	HUVEC	blood vessel
8	chr5:17080600-17081200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr5:17081000-17081400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:17081000-17081400	Enhancers	Fetal Muscle Trunk	muscle
11	chr5:17081000-17081400	Enhancers	Lung	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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