Variant report

Variant	rs11522442
Chromosome Location	chr10:53778714-53778715
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10762512	0.80[EUR][1000 genomes]
rs10762522	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10762526	0.97[ASN][1000 genomes]
rs10823951	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10823952	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10823954	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10823955	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10823959	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10823978	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11000320	0.87[EUR][1000 genomes]
rs11000438	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12217220	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12217231	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12219323	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12359611	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1903955	0.83[EUR][1000 genomes]
rs1903960	0.84[EUR][1000 genomes]
rs1903975	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1903976	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1903977	0.97[ASN][1000 genomes]
rs1903978	0.97[ASN][1000 genomes]
rs1903979	0.94[ASN][1000 genomes]
rs1903986	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2246585	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2339892	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2339897	0.81[EUR][1000 genomes]
rs2447638	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2447639	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2447645	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2454535	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2454536	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2454552	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2454563	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2454570	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2879633	0.82[EUR][1000 genomes]
rs7893146	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2750961	chr10:53726294-54010594	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1040754	chr10:53758289-53845925	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv524814	chr10:53771085-53781507	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53771800-53778800	Weak transcription	Aorta	Aorta
2	chr10:53774800-53780400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:53778000-53779200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr10:53778000-53779200	Enhancers	Fetal Lung	lung
5	chr10:53778200-53778800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr10:53778200-53781000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr10:53778400-53778800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr10:53778400-53779600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:53778400-53779600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr10:53778400-53780200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:53778400-53781000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr10:53778400-53781200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:53778600-53779000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr10:53778600-53779000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr10:53778600-53779200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:53778600-53779200	Enhancers	Fetal Kidney	kidney
17	chr10:53778600-53779600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr10:53778600-53781000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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