Variant report

Variant	rs58597384
Chromosome Location	chr5:127435282-127435283
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:127428694..127433227-chr5:127434862..127437524,4	K562	blood:
2	chr5:127432707..127435327-chr5:127438169..127440618,3	K562	blood:
3	chr5:127428726..127433227-chr5:127434885..127438247,5	K562	blood:
4	chr5:127434040..127436048-chr5:127444617..127446605,2	K562	blood:
5	chr5:127372368..127374047-chr5:127433915..127436098,2	K562	blood:
6	chr5:127419054..127420642-chr5:127435156..127436795,2	MCF-7	breast:
7	chr5:127429085..127432949-chr5:127432984..127436984,4	MCF-7	breast:
8	chr5:127417604..127421572-chr5:127435124..127437256,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250329	Chromatin interaction
ENSG00000064651	Chromatin interaction
ENSG00000245937	Chromatin interaction

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

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

rs_ID	r²[population]
rs10519973	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10519974	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1368270	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17697126	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17697290	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17764718	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3805604	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4835938	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4835939	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4835942	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4836362	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4836365	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55763377	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58395264	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62373688	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62373689	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62373694	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6867078	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73337306	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7379655	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9800302	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv4993	chr5:127405214-127445622	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv1825644	chr5:127427533-127450581	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127421400-127436400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:127421400-127450200	Weak transcription	Fetal Thymus	thymus
3	chr5:127421600-127466800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:127423000-127436600	Weak transcription	HSMMtube	muscle
5	chr5:127423600-127436400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:127423600-127444800	Weak transcription	Fetal Stomach	stomach
7	chr5:127423600-127494000	Weak transcription	K562	blood
8	chr5:127425800-127445000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:127429200-127436000	Weak transcription	Left Ventricle	heart
10	chr5:127429600-127436000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:127429800-127436000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:127430000-127441000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:127430800-127436000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:127431400-127435600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:127432400-127454600	Weak transcription	Fetal Kidney	kidney
16	chr5:127432600-127437200	Weak transcription	NHDF-Ad	bronchial
17	chr5:127433600-127435400	Weak transcription	Fetal Heart	heart
18	chr5:127434400-127435600	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr5:127434400-127449000	Weak transcription	Dnd41	blood
20	chr5:127434600-127444000	Weak transcription	Fetal Intestine Large	intestine
21	chr5:127434800-127436000	Strong transcription	A549	lung
22	chr5:127434800-127438600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:127434800-127445400	Weak transcription	Primary T cells from cord blood	blood
24	chr5:127434800-127450600	Weak transcription	Fetal Intestine Small	intestine
25	chr5:127435000-127435600	Weak transcription	Small Intestine	intestine
26	chr5:127435000-127435800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:127435000-127436600	Weak transcription	Fetal Lung	lung
28	chr5:127435000-127437800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:127435000-127438600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr5:127435000-127441000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:127435000-127441000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr5:127435000-127445800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:127435000-127447600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:127435000-127447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:127435000-127448600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:127435000-127448600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr5:127435000-127449600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr5:127435200-127436200	Weak transcription	Brain Substantia Nigra	brain
39	chr5:127435200-127450400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:127435200-127450800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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