Variant report

Variant	rs10044033
Chromosome Location	chr5:111593415-111593416
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	chr5:111587450..111590273-chr5:111592333..111594588,2	K562	blood:
2	chr5:111587415..111588930-chr5:111591870..111593534,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1404215	1.00[AMR][1000 genomes]
rs17134376	1.00[AMR][1000 genomes]
rs4279380	0.85[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4331945	0.81[AFR][1000 genomes]
rs4354094	0.81[AFR][1000 genomes]
rs4355564	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs4998734	0.81[AFR][1000 genomes]
rs6594579	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7719945	1.00[AMR][1000 genomes]
rs7724849	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:26 , 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	chr5:111585800-111606000	Weak transcription	Spleen	Spleen
7	chr5:111586600-111626400	Weak transcription	Gastric	stomach
8	chr5:111590400-111609600	Weak transcription	Psoas Muscle	Psoas
9	chr5:111590400-111628200	Weak transcription	Aorta	Aorta
10	chr5:111590600-111598200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:111590600-111605800	Weak transcription	Right Ventricle	heart
12	chr5:111590800-111617000	Weak transcription	Left Ventricle	heart
13	chr5:111590800-111617200	Weak transcription	Esophagus	oesophagus
14	chr5:111590800-111618200	Weak transcription	Right Atrium	heart
15	chr5:111591400-111597400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:111591400-111606600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:111592200-111594800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:111592800-111595400	Enhancers	Adipose Nuclei	Adipose
19	chr5:111593000-111594000	Enhancers	HUVEC	blood vessel
20	chr5:111593000-111594200	Enhancers	Fetal Lung	lung
21	chr5:111593000-111595400	Enhancers	Fetal Brain Male	brain
22	chr5:111593000-111595400	Enhancers	Fetal Heart	heart
23	chr5:111593200-111597000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:111593400-111595400	Enhancers	Fetal Brain Female	brain
25	chr5:111593400-111598000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr5:111593400-111605600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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