Variant report

Variant	rs11819019
Chromosome Location	chr10:50654544-50654545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50648888..50650860-chr10:50652961..50655311,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERCC6-1	chr10:50641879-50655452	NONHSAT013306

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1130028	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11812473	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11815156	0.85[EUR][1000 genomes]
rs17010079	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17719092	0.87[EUR][1000 genomes]
rs17775180	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2228526	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2228527	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2228529	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36079558	0.89[EUR][1000 genomes]
rs3940160	0.90[ASN][1000 genomes]
rs4253011	0.97[EUR][1000 genomes]
rs4253028	0.97[EUR][1000 genomes]
rs4253042	0.97[EUR][1000 genomes]
rs4253049	0.97[EUR][1000 genomes]
rs4253055	0.97[EUR][1000 genomes]
rs4253101	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4253106	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4253121	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4253165	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4253166	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4253193	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56164647	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58002245	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58711755	0.97[EUR][1000 genomes]
rs58912975	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59898389	0.97[EUR][1000 genomes]
rs61846612	0.97[EUR][1000 genomes]
rs61846615	0.97[EUR][1000 genomes]
rs61846616	0.95[EUR][1000 genomes]
rs61846617	0.95[EUR][1000 genomes]
rs61846618	0.94[EUR][1000 genomes]
rs61846620	0.89[EUR][1000 genomes]
rs61846637	0.86[EUR][1000 genomes]
rs61850971	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61850976	0.99[EUR][1000 genomes]
rs7073830	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7079192	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7093098	0.95[EUR][1000 genomes]
rs7097122	0.86[EUR][1000 genomes]
rs7097866	0.89[EUR][1000 genomes]
rs7909222	0.87[EUR][1000 genomes]
rs7920256	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs971667	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895377	chr10:50588990-50678212	ZNF genes & repeats Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50638400-50665800	Weak transcription	Gastric	stomach
2	chr10:50645800-50655200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr10:50648000-50662200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr10:50648000-50662200	Weak transcription	Left Ventricle	heart
5	chr10:50648400-50662200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:50649600-50665600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr10:50650400-50654600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:50650400-50662200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:50650400-50662200	Weak transcription	Placenta	Placenta
10	chr10:50650400-50662200	Weak transcription	Pancreas	Pancrea
11	chr10:50650400-50662200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr10:50650800-50654800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:50650800-50662000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr10:50650800-50662200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:50652200-50662200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:50652400-50662400	Weak transcription	Aorta	Aorta
17	chr10:50653800-50654600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr10:50653800-50655400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:50654000-50655400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:50654400-50655600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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