Variant report

Variant	rs7015364
Chromosome Location	chr8:125184039-125184040
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10091262	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10091270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11783004	0.83[AFR][1000 genomes]
rs12114156	0.84[ASN][1000 genomes]
rs12550247	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12680268	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4242360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6470227	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6470230	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6991843	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6991906	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7817281	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][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	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv948556	chr8:125067187-125204721	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv891429	chr8:125163219-125246937	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125183000-125187200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:125184000-125184200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr8:125184000-125184200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr8:125184000-125184200	ZNF genes & repeats	GM12878-XiMat	blood
5	chr8:125184000-125184200	Flanking Bivalent TSS/Enh	HSMM	muscle
6	chr8:125184000-125184200	Flanking Bivalent TSS/Enh	HSMMtube	muscle
7	chr8:125184000-125184200	Bivalent/Poised TSS	HUVEC	blood vessel
8	chr8:125184000-125184200	Bivalent/Poised TSS	NH-A	brain
9	chr8:125184000-125184200	Enhancers	NHDF-Ad	bronchial
10	chr8:125184000-125184200	Flanking Active TSS	NHEK	skin
11	chr8:125184000-125184200	Flanking Bivalent TSS/Enh	NHLF	lung
12	chr8:125184000-125184200	Enhancers	Osteobl	bone
13	chr8:125184000-125184400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr8:125184000-125184400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:125184000-125184400	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr8:125184000-125184400	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr8:125184000-125184400	Active TSS	HMEC	breast
18	chr8:125184000-125184400	ZNF genes & repeats	K562	blood

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

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