Variant report

Variant	rs61475230
Chromosome Location	chr5:111593219-111593220
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111587450..111590273-chr5:111592333..111594588,2	K562	blood:
2	chr5:111587415..111588930-chr5:111591870..111593534,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10478074	0.97[ASN][1000 genomes]
rs10478076	0.91[ASN][1000 genomes]
rs12652766	0.92[ASN][1000 genomes]
rs12655450	0.93[ASN][1000 genomes]
rs12656841	0.87[ASN][1000 genomes]
rs12719140	0.97[ASN][1000 genomes]
rs13358904	0.97[ASN][1000 genomes]
rs28620667	0.94[ASN][1000 genomes]
rs34819608	0.95[ASN][1000 genomes]
rs35005258	0.87[ASN][1000 genomes]
rs36049225	0.87[ASN][1000 genomes]
rs4323272	0.87[ASN][1000 genomes]
rs4635975	0.93[ASN][1000 genomes]
rs4958024	0.92[ASN][1000 genomes]
rs4958026	0.97[ASN][1000 genomes]
rs4958029	0.95[ASN][1000 genomes]
rs57970031	0.93[ASN][1000 genomes]
rs59775924	0.93[ASN][1000 genomes]
rs60823180	0.95[ASN][1000 genomes]
rs61535569	0.95[ASN][1000 genomes]
rs62364080	0.97[ASN][1000 genomes]
rs6879361	0.94[ASN][1000 genomes]
rs7715255	0.96[ASN][1000 genomes]
rs7716479	0.98[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	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111564600-111609600	Weak transcription	Pancreas	Pancrea
2	chr5:111567400-111602400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:111568600-111609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:111581800-111595000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:111584800-111605600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:111585600-111593400	Weak transcription	Fetal Brain Female	brain
7	chr5:111585800-111606000	Weak transcription	Spleen	Spleen
8	chr5:111586600-111626400	Weak transcription	Gastric	stomach
9	chr5:111590400-111609600	Weak transcription	Psoas Muscle	Psoas
10	chr5:111590400-111628200	Weak transcription	Aorta	Aorta
11	chr5:111590600-111598200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:111590600-111605800	Weak transcription	Right Ventricle	heart
13	chr5:111590800-111617000	Weak transcription	Left Ventricle	heart
14	chr5:111590800-111617200	Weak transcription	Esophagus	oesophagus
15	chr5:111590800-111618200	Weak transcription	Right Atrium	heart
16	chr5:111591400-111597400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:111591400-111606600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:111592200-111594800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr5:111592400-111593400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:111592400-111593400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:111592600-111593400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:111592800-111595400	Enhancers	Adipose Nuclei	Adipose
23	chr5:111593000-111593400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:111593000-111594000	Enhancers	HUVEC	blood vessel
25	chr5:111593000-111594200	Enhancers	Fetal Lung	lung
26	chr5:111593000-111595400	Enhancers	Fetal Brain Male	brain
27	chr5:111593000-111595400	Enhancers	Fetal Heart	heart
28	chr5:111593200-111597000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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