Variant report

Variant	rs72682459
Chromosome Location	chr8:120164249-120164250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1003465	0.83[EUR][1000 genomes]
rs1159094	0.83[EUR][1000 genomes]
rs13248214	0.83[EUR][1000 genomes]
rs13248488	0.83[EUR][1000 genomes]
rs13251028	1.00[ASN][1000 genomes]
rs13254750	1.00[ASN][1000 genomes]
rs13260963	0.81[EUR][1000 genomes]
rs13260983	0.81[EUR][1000 genomes]
rs13261773	0.81[EUR][1000 genomes]
rs13269610	1.00[ASN][1000 genomes]
rs13269850	1.00[ASN][1000 genomes]
rs13271541	1.00[ASN][1000 genomes]
rs13280618	0.83[EUR][1000 genomes]
rs1549413	0.83[EUR][1000 genomes]
rs1549414	0.83[EUR][1000 genomes]
rs1549417	0.83[EUR][1000 genomes]
rs1549418	0.83[EUR][1000 genomes]
rs1549419	0.83[EUR][1000 genomes]
rs17179200	1.00[ASN][1000 genomes]
rs17179583	1.00[ASN][1000 genomes]
rs17180638	1.00[ASN][1000 genomes]
rs2081430	0.83[EUR][1000 genomes]
rs2875865	0.83[EUR][1000 genomes]
rs34093940	1.00[ASN][1000 genomes]
rs34182057	1.00[ASN][1000 genomes]
rs34411131	1.00[ASN][1000 genomes]
rs34444965	1.00[ASN][1000 genomes]
rs34857732	0.86[EUR][1000 genomes]
rs35396477	1.00[ASN][1000 genomes]
rs35398753	1.00[ASN][1000 genomes]
rs4434650	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455869	0.83[EUR][1000 genomes]
rs4460404	1.00[ASN][1000 genomes]
rs4537331	1.00[ASN][1000 genomes]
rs55688196	1.00[ASN][1000 genomes]
rs55720331	1.00[ASN][1000 genomes]
rs56413724	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67852317	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989015	0.83[EUR][1000 genomes]
rs6989140	0.83[EUR][1000 genomes]
rs6989177	0.83[EUR][1000 genomes]
rs6989291	0.83[EUR][1000 genomes]
rs6989550	0.83[EUR][1000 genomes]
rs6993537	0.83[EUR][1000 genomes]
rs6993678	0.83[EUR][1000 genomes]
rs6993820	0.83[EUR][1000 genomes]
rs7009621	0.82[EUR][1000 genomes]
rs7012132	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532417	0.86[ASN][1000 genomes]
rs72682437	1.00[ASN][1000 genomes]
rs72682456	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694765	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1810588	chr8:120120429-120168446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1808446	chr8:120120901-120168446	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv6363	chr8:120150231-120188957	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv612073	chr8:120155591-120165257	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv612074	chr8:120155591-120168541	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1804358	chr8:120155591-120179986	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv612084	chr8:120156014-120165257	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv612085	chr8:120156014-120167195	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv612086	chr8:120156014-120168541	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv612090	chr8:120156147-120165257	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv612101	chr8:120156923-120165257	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv612104	chr8:120157288-120165257	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv612107	chr8:120157583-120165257	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv612110	chr8:120158372-120165257	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120156400-120165000	Weak transcription	Fetal Lung	lung
2	chr8:120158000-120165200	Weak transcription	NHEK	skin
3	chr8:120161400-120164400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:120163200-120165600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr8:120164200-120164600	Enhancers	Pancreas	Pancrea

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