Variant report

Variant	rs1427580
Chromosome Location	chr7:124893865-124893866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1020629	0.94[CHB][hapmap]
rs1031952	0.81[CHB][hapmap]
rs10500102	0.87[CHB][hapmap]
rs10954068	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10954069	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1108984	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11768346	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11771079	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1248737	0.86[CHB][hapmap]
rs1377811	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1404897	0.81[CHB][hapmap]
rs1525620	0.84[CHB][hapmap]
rs1552116	0.87[CHB][hapmap]
rs1552117	0.87[CHB][hapmap]
rs17147889	0.81[CHB][hapmap]
rs2929322	0.81[CHB][hapmap]
rs34246481	0.94[CHB][hapmap];0.81[JPT][hapmap]
rs35403731	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4370475	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57452500	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57797060	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs612391	0.85[CHB][hapmap]
rs627823	0.86[CHB][hapmap]
rs6466996	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs650653	0.87[CHB][hapmap]
rs651988	0.94[CHB][hapmap]
rs663056	0.87[CHB][hapmap]
rs664062	0.94[CHB][hapmap]
rs6965196	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6973753	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73440504	0.84[AFR][1000 genomes]
rs73440522	0.84[AFR][1000 genomes]
rs7776954	0.91[ASN][1000 genomes]
rs7783242	0.81[AFR][1000 genomes]
rs7797011	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs9785002	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs9942625	0.85[CHB][hapmap];0.82[JPT][hapmap]

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:16 , 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	chr7:124892800-124894200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:124892800-124898000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:124893000-124894000	Enhancers	HMEC	breast
9	chr7:124893200-124894000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:124893200-124895400	Enhancers	NHEK	skin
11	chr7:124893400-124894200	Enhancers	Fetal Heart	heart
12	chr7:124893600-124894000	Enhancers	Fetal Lung	lung
13	chr7:124893600-124895000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:124893800-124894400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:124893800-124894800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:124893800-124894800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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