Variant report

Variant	rs17004793
Chromosome Location	chr21:47119273-47119274
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	chr21:47119012..47122239-chr21:47123124..47126324,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10483081	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11701249	0.89[ASN][1000 genomes]
rs17004795	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17004797	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838975	0.84[JPT][hapmap]
rs2839008	0.84[JPT][hapmap]
rs73907819	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1063957	chr21:47090475-47168291	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	nsv1056995	chr21:47094147-47120504	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
10	nsv1062702	chr21:47095762-47169369	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
11	nsv544493	chr21:47095762-47169369	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47102600-47138400	Weak transcription	Fetal Thymus	thymus
2	chr21:47117600-47121200	Enhancers	NHDF-Ad	bronchial
3	chr21:47117800-47119600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr21:47117800-47121000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:47118000-47119400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:47118000-47120600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:47118200-47119400	Enhancers	NHEK	skin
8	chr21:47118200-47119600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:47118200-47119600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:47118200-47119600	Enhancers	HMEC	breast
11	chr21:47118200-47120000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr21:47118400-47119400	Enhancers	Fetal Stomach	stomach
13	chr21:47118600-47119400	Enhancers	Primary T cells from cord blood	blood
14	chr21:47118600-47119600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr21:47118600-47119800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr21:47118600-47120200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:47118600-47125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr21:47118800-47119600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr21:47118800-47119800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr21:47118800-47119800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr21:47118800-47119800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr21:47118800-47120800	Weak transcription	Right Atrium	heart
23	chr21:47119000-47119400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr21:47119000-47119400	Enhancers	Thymus	Thymus
25	chr21:47119000-47119600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr21:47119000-47119600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr21:47119000-47128800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr21:47119200-47119800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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