Variant report

Variant	rs11911348
Chromosome Location	chr21:47182291-47182292
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	chr21:47180995..47184771-chr21:47188316..47191087,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC19A1-9	chr21:47179718-47183672	NONHSAT082989

Variant related genes	Relation type
ENSG00000267883	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11089019	0.90[ASN][1000 genomes]
rs11908836	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2330328	0.91[CHB][hapmap]
rs2838977	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2838979	0.90[ASN][1000 genomes]
rs2839023	0.90[CHB][hapmap]
rs2839024	0.90[CHB][hapmap]
rs4819138	0.80[CHB][hapmap]
rs4819142	0.90[CHB][hapmap]
rs4819147	1.00[ASN][1000 genomes]
rs725930	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7278258	0.82[CHB][hapmap]
rs7280089	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73232746	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs741954	0.82[CHB][hapmap]
rs8133338	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9798668	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9977594	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9978480	0.86[EUR][1000 genomes]
rs9982063	0.87[ASN][1000 genomes]
rs9982174	0.87[ASN][1000 genomes]
rs9984438	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47166200-47194400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr21:47168600-47187000	Weak transcription	NHDF-Ad	bronchial
3	chr21:47168800-47183000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:47170200-47188800	Weak transcription	Spleen	Spleen
5	chr21:47170800-47188200	Weak transcription	Right Atrium	heart
6	chr21:47171800-47186600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr21:47175600-47186000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:47177200-47187400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:47180000-47186600	Strong transcription	Thymus	Thymus
10	chr21:47180400-47187000	Weak transcription	HSMMtube	muscle
11	chr21:47180600-47186800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr21:47180800-47182400	Weak transcription	Fetal Thymus	thymus
13	chr21:47181600-47183400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:47182000-47186600	Weak transcription	Primary T cells from cord blood	blood
15	chr21:47182200-47182800	Enhancers	Fetal Stomach	stomach

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