Variant report

Variant	rs72682456
Chromosome Location	chr8:120161510-120161511
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1003465	0.82[EUR][1000 genomes]
rs1159094	0.82[EUR][1000 genomes]
rs13248214	0.82[EUR][1000 genomes]
rs13248488	0.82[EUR][1000 genomes]
rs13251028	1.00[ASN][1000 genomes]
rs13254750	1.00[ASN][1000 genomes]
rs13260963	0.80[EUR][1000 genomes]
rs13260983	0.80[EUR][1000 genomes]
rs13261773	0.80[EUR][1000 genomes]
rs13269610	1.00[ASN][1000 genomes]
rs13269850	1.00[ASN][1000 genomes]
rs13271541	1.00[ASN][1000 genomes]
rs13280618	0.82[EUR][1000 genomes]
rs1549413	0.82[EUR][1000 genomes]
rs1549414	0.82[EUR][1000 genomes]
rs1549417	0.82[EUR][1000 genomes]
rs1549418	0.82[EUR][1000 genomes]
rs1549419	0.82[EUR][1000 genomes]
rs17179200	1.00[ASN][1000 genomes]
rs17179583	1.00[ASN][1000 genomes]
rs17180638	1.00[ASN][1000 genomes]
rs2081430	0.82[EUR][1000 genomes]
rs2875865	0.82[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	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4455869	0.82[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67852317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989015	0.82[EUR][1000 genomes]
rs6989140	0.82[EUR][1000 genomes]
rs6989177	0.82[EUR][1000 genomes]
rs6989291	0.82[EUR][1000 genomes]
rs6989550	0.82[EUR][1000 genomes]
rs6993537	0.82[EUR][1000 genomes]
rs6993678	0.82[EUR][1000 genomes]
rs6993820	0.82[EUR][1000 genomes]
rs7009621	0.81[EUR][1000 genomes]
rs7012132	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71532417	0.86[ASN][1000 genomes]
rs72682437	1.00[ASN][1000 genomes]
rs72682459	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694765	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	esv3343714	chr8:120147320-120161897	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	esv3513660	chr8:120153421-120162319	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3513662	chr8:120153821-120162244	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2589587	chr8:120154028-120161884	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv989618	chr8:120154403-120162265	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3479931	chr8:120154471-120162969	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3584893	chr8:120154784-120163755	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2542870	chr8:120155000-120161813	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv612073	chr8:120155591-120165257	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv612074	chr8:120155591-120168541	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	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
18	nsv612084	chr8:120156014-120165257	Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv612085	chr8:120156014-120167195	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv612086	chr8:120156014-120168541	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv612090	chr8:120156147-120165257	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv612101	chr8:120156923-120165257	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv612104	chr8:120157288-120165257	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv612107	chr8:120157583-120165257	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120156400-120165000	Weak transcription	Fetal Lung	lung
2	chr8:120157800-120163200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:120158000-120165200	Weak transcription	NHEK	skin
4	chr8:120159800-120162000	Enhancers	Fetal Intestine Large	intestine
5	chr8:120160600-120161800	Enhancers	Duodenum Mucosa	Duodenum
6	chr8:120160600-120162000	Enhancers	Fetal Intestine Small	intestine
7	chr8:120160800-120161600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:120161000-120161600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:120161400-120161600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:120161400-120161800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:120161400-120164400	Weak transcription	Rectal Mucosa Donor 29	rectum

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