Variant report

Variant	rs11952407
Chromosome Location	chr5:111553508-111553509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111552892..111554536-chr5:111555904..111558147,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11948718	1.00[AMR][1000 genomes]
rs11954056	1.00[AMR][1000 genomes]
rs11954058	1.00[AMR][1000 genomes]
rs1427976	1.00[AMR][1000 genomes]
rs1427977	1.00[AMR][1000 genomes]
rs17134169	1.00[AMR][1000 genomes]
rs17134172	1.00[AMR][1000 genomes]
rs17134175	1.00[AMR][1000 genomes]
rs17134220	1.00[AMR][1000 genomes]
rs17134247	1.00[AMR][1000 genomes]
rs17134248	1.00[AMR][1000 genomes]
rs4331945	1.00[AMR][1000 genomes]
rs4354094	1.00[AMR][1000 genomes]
rs4355564	1.00[AMR][1000 genomes]
rs4604230	1.00[AMR][1000 genomes]
rs4958016	1.00[AMR][1000 genomes]
rs4998734	1.00[AMR][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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111504800-111557800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:111504800-111586400	Weak transcription	Gastric	stomach
3	chr5:111519200-111553800	Weak transcription	Pancreas	Pancrea
4	chr5:111519800-111553600	Weak transcription	Esophagus	oesophagus
5	chr5:111529800-111553600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:111538600-111563600	Weak transcription	Lung	lung
7	chr5:111539000-111553600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:111540400-111553600	Weak transcription	Fetal Heart	heart
9	chr5:111541800-111553800	Weak transcription	Right Ventricle	heart
10	chr5:111544600-111553600	Weak transcription	Left Ventricle	heart
11	chr5:111545400-111556800	Weak transcription	Fetal Kidney	kidney
12	chr5:111545600-111556400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:111546600-111553600	Weak transcription	Hela-S3	cervix
14	chr5:111546600-111561600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:111553000-111553800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:111553000-111554200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:111553200-111553800	Enhancers	HMEC	breast
18	chr5:111553200-111554000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:111553200-111554000	Enhancers	NHEK	skin
20	chr5:111553200-111554200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:111553200-111554200	Enhancers	K562	blood
22	chr5:111553400-111553800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:111553400-111554000	Enhancers	A549	lung

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