Variant report

Variant	rs1427579
Chromosome Location	chr7:124893698-124893699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10279503	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1086964	0.87[ASN][1000 genomes]
rs11768552	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12530620	0.84[EUR][1000 genomes]
rs12534822	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13226465	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1427586	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1454126	0.87[ASN][1000 genomes]
rs1728929	0.81[ASN][1000 genomes]
rs1728930	0.81[ASN][1000 genomes]
rs17329822	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17388970	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1902003	0.87[ASN][1000 genomes]
rs2003139	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34593234	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4731240	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6948143	0.82[ASN][1000 genomes]
rs6957121	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6961484	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6967665	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6969306	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7797428	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7810705	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs792616	0.87[ASN][1000 genomes]
rs792627	0.81[ASN][1000 genomes]
rs792628	0.81[ASN][1000 genomes]
rs952001	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs952002	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394090	chr7:124602150-124900799	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv2422188	chr7:124782873-125254203	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1029627	chr7:124810399-124901651	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2761087	chr7:124823624-125429662	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv971196	chr7:124892350-124896473	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv824299	chr7:124893267-124896686	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases
7	esv3476705	chr7:124893294-124896811	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
8	esv3476707	chr7:124893317-124896813	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	inside rSNPs	diseases
9	esv3476706	chr7:124893365-124896750	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases
10	esv3476709	chr7:124893433-124896686	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124885600-124894800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:124887400-124898000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:124891000-124895600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:124892400-124896000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:124892600-124896000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:124892800-124893800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:124892800-124894200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:124892800-124898000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:124893000-124893800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:124893000-124893800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:124893000-124894000	Enhancers	HMEC	breast
12	chr7:124893200-124894000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:124893200-124895400	Enhancers	NHEK	skin
14	chr7:124893400-124893800	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr7:124893400-124893800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr7:124893400-124894200	Enhancers	Fetal Heart	heart
17	chr7:124893600-124893800	Enhancers	Pancreas	Pancrea
18	chr7:124893600-124894000	Enhancers	Fetal Lung	lung
19	chr7:124893600-124895000	Genic enhancers	HUES64 Cell Line	embryonic stem cell

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