Variant report

Variant	rs2697919
Chromosome Location	chr11:47371032-47371033
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:47289586..47293263-chr11:47367721..47372690,6	MCF-7	breast:
2	chr11:47369216..47372065-chr11:47378496..47380430,2	K562	blood:
3	chr11:47255181..47256141-chr11:47370556..47371064,2	MCF-7	breast:
4	chr11:47289111..47291815-chr11:47370761..47372968,2	MCF-7	breast:
5	chr11:47204485..47206326-chr11:47369584..47372099,2	MCF-7	breast:
6	chr11:47363652..47368436-chr11:47368498..47371185,5	K562	blood:
7	chr11:47183301..47185568-chr11:47370586..47372939,2	K562	blood:
8	chr11:47368613..47373799-chr11:47374584..47376990,4	MCF-7	breast:
9	chr11:47289275..47291603-chr11:47370124..47373215,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165912	Chromatin interaction
ENSG00000025434	Chromatin interaction
ENSG00000110514	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11039160	0.83[EUR][1000 genomes]
rs11039161	0.83[EUR][1000 genomes]
rs11039177	0.83[EUR][1000 genomes]
rs11530167	0.83[EUR][1000 genomes]
rs3729948	0.86[EUR][1000 genomes]
rs3729953	0.89[EUR][1000 genomes]
rs3729985	0.91[AMR][1000 genomes]
rs3729991	0.82[EUR][1000 genomes]
rs4752830	0.91[AMR][1000 genomes]
rs57852039	0.83[EUR][1000 genomes]
rs58912703	0.86[EUR][1000 genomes]
rs61468175	0.91[AMR][1000 genomes]
rs6485752	0.91[AMR][1000 genomes]
rs7943429	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47351400-47375600	Weak transcription	Primary B cells from cord blood	blood
2	chr11:47353600-47375400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:47354800-47372800	Weak transcription	Gastric	stomach
4	chr11:47364000-47372200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:47367200-47372200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:47367800-47377200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:47368600-47374800	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:47369000-47371200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:47369600-47372400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:47369800-47374400	Active TSS	Right Atrium	heart
11	chr11:47369800-47375600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr11:47370000-47374800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:47370600-47371200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:47370600-47371200	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr11:47370600-47371600	Enhancers	Spleen	Spleen
16	chr11:47370600-47373000	Transcr. at gene 5' and 3'	Right Ventricle	heart
17	chr11:47370800-47371200	Active TSS	Left Ventricle	heart
18	chr11:47370800-47377000	Weak transcription	K562	blood
19	chr11:47371000-47371600	Enhancers	Fetal Heart	heart
20	chr11:47371000-47373600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr11:47371000-47379800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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