Variant report

Variant	rs4242500
Chromosome Location	chr8:5023216-5023217
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10097991	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11136827	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11786744	0.83[ASN][1000 genomes]
rs13278780	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1454278	0.83[ASN][1000 genomes]
rs4602910	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4992344	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67000071	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67586192	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6993346	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6998195	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7001682	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7014649	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7830151	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7830168	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7830304	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7835791	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv889978	chr8:4853197-5460166	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1028846	chr8:4907673-5128665	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1025394	chr8:4939429-5041417	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv889980	chr8:4940320-5112194	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1033108	chr8:4957499-5067611	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv539406	chr8:4957499-5067611	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1028032	chr8:4967369-5032325	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv889981	chr8:4969414-5026520	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1030930	chr8:4974111-5044712	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv2761400	chr8:4990205-5044712	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv831217	chr8:5007449-5210093	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5022000-5026600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:5022200-5023400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:5022600-5024600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr8:5022800-5023400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:5022800-5024200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr8:5022800-5024800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr8:5023000-5024400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:5023000-5027000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:5023200-5023400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:5023200-5024400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:5023200-5024400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:5023200-5024600	Enhancers	HUES48 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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