Variant report

Variant	rs72693132
Chromosome Location	chr1:120013376-120013377
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10802097	0.84[EUR][1000 genomes]
rs10802098	0.84[EUR][1000 genomes]
rs10802099	0.84[EUR][1000 genomes]
rs10923836	0.84[EUR][1000 genomes]
rs10923837	0.84[EUR][1000 genomes]
rs11588556	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2275609	0.84[EUR][1000 genomes]
rs34604707	0.84[EUR][1000 genomes]
rs3949342	0.83[EUR][1000 genomes]
rs4659178	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61808460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72693128	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515792	0.84[EUR][1000 genomes]
rs7547046	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv1004662	chr1:119847447-120154798	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	esv2763647	chr1:119929442-120154798	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv470733	chr1:119991429-120018155	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1002204	chr1:119998794-120033837	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv1013126	chr1:119998794-120036937	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv946179	chr1:120007180-120016651	Enhancers Weak transcription Bivalent Enhancer	TF binding region	2 gene(s)	inside rSNPs	diseases
13	esv3403953	chr1:120010829-120015527	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	diseases
14	esv2598112	chr1:120012316-120014180	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
15	esv2243415	chr1:120012659-120013805	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
16	esv3452449	chr1:120012714-120013712	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
17	esv3452450	chr1:120012770-120013697	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
18	esv3452451	chr1:120012770-120013697	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
19	esv4227	chr1:120012775-120013811	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
20	esv3324597	chr1:120012837-120013633	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
21	esv14752	chr1:120012853-120013616	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120010200-120015600	Weak transcription	Placenta	Placenta
2	chr1:120010600-120014600	Weak transcription	Fetal Lung	lung
3	chr1:120011200-120018400	Weak transcription	Pancreas	Pancrea
4	chr1:120012000-120014200	Weak transcription	Fetal Stomach	stomach
5	chr1:120012000-120018400	Weak transcription	Fetal Intestine Small	intestine
6	chr1:120012200-120017200	Weak transcription	Liver	Liver
7	chr1:120012400-120015400	Weak transcription	Fetal Intestine Large	intestine

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