Variant report

Variant	rs7281669
Chromosome Location	chr21:47175406-47175407
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47173277..47175027-chr21:47175052..47177163,2	MCF-7	breast:
2	chr21:47172572..47175558-chr21:47335784..47338015,2	MCF-7	breast:
3	chr21:47170584..47173101-chr21:47174695..47177329,2	K562	blood:
4	chr21:47174221..47175833-chr21:47188320..47189947,2	MCF-7	breast:
5	chr21:47167589..47169880-chr21:47173144..47175961,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183570	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11089022	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs11702443	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs11702478	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs11702850	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11911839	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12627257	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs1556335	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2075885	0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap]
rs2150452	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2297293	0.80[ASN][1000 genomes]
rs2330245	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2838984	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2839006	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2839007	1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs2839015	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2839027	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2839028	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs2839034	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs28438591	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3788219	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs4819145	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4819146	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4819150	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62213280	0.82[ASN][1000 genomes]
rs7278438	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs743352	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs8129118	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8129304	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8134872	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs914243	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs9306138	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes]
rs9306141	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs971977	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9977795	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9978181	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9979633	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47166200-47176800	Weak transcription	Dnd41	blood
2	chr21:47166200-47194400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr21:47167800-47176200	Weak transcription	NH-A	brain
4	chr21:47168600-47187000	Weak transcription	NHDF-Ad	bronchial
5	chr21:47168800-47183000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:47169000-47176000	Weak transcription	Primary T cells from cord blood	blood
7	chr21:47169400-47175800	Weak transcription	HSMM	muscle
8	chr21:47170000-47179800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr21:47170200-47188800	Weak transcription	Spleen	Spleen
10	chr21:47170800-47188200	Weak transcription	Right Atrium	heart
11	chr21:47171800-47179400	Weak transcription	Fetal Thymus	thymus
12	chr21:47171800-47180000	Weak transcription	Thymus	Thymus
13	chr21:47171800-47186600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr21:47175000-47175600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:47175200-47175600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:47175400-47176800	Enhancers	HepG2	liver

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