Variant report

Variant	rs2117983
Chromosome Location	chr21:44958681-44958682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44947553..44949798-chr21:44957726..44959833,2	MCF-7	breast:
2	chr21:44958599..44960833-chr21:45017380..45019102,2	MCF-7	breast:
3	chr21:44957548..44959787-chr21:44963365..44965721,2	MCF-7	breast:
4	chr21:44763218..44765944-chr21:44956072..44958791,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11911243	0.84[EUR][1000 genomes]
rs17004570	0.84[EUR][1000 genomes]
rs17004571	0.84[EUR][1000 genomes]
rs17004572	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17004605	0.84[EUR][1000 genomes]
rs4819297	0.84[EUR][1000 genomes]
rs56698438	0.84[EUR][1000 genomes]
rs58248685	0.84[EUR][1000 genomes]
rs58359181	0.92[EUR][1000 genomes]
rs60365395	0.80[EUR][1000 genomes]
rs60400332	0.92[EUR][1000 genomes]
rs60772506	0.84[EUR][1000 genomes]
rs60776319	0.92[EUR][1000 genomes]
rs61060243	1.00[EUR][1000 genomes]
rs61105490	0.84[EUR][1000 genomes]
rs73906592	0.80[EUR][1000 genomes]
rs73906595	0.84[EUR][1000 genomes]
rs73906600	0.84[EUR][1000 genomes]
rs73906601	0.84[EUR][1000 genomes]
rs73908372	0.84[EUR][1000 genomes]
rs8127287	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1839560	chr21:44864079-44973184	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv587689	chr21:44884252-44986050	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
8	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
9	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
10	esv1837818	chr21:44949285-44987079	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44946800-44962800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:44951200-44959400	Weak transcription	Right Atrium	heart
3	chr21:44952400-44962600	Weak transcription	HSMM	muscle
4	chr21:44956800-44958800	Enhancers	HMEC	breast
5	chr21:44957200-44958800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr21:44957800-44963000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:44958200-44959600	Weak transcription	HSMMtube	muscle
8	chr21:44958400-44964400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:44958600-44958800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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