Variant report

Variant	rs1031205
Chromosome Location	chr5:124254343-124254344
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr5:124254340-124254594	K562	blood:	n/a	chr5:124254509-124254524
2	IRF3	chr5:124254316-124254344	GM12878	blood:	n/a	n/a
3	MAFK	chr5:124254333-124254683	HepG2	liver:	n/a	chr5:124254509-124254524
4	MAFF	chr5:124254341-124254668	HepG2	liver:	n/a	chr5:124254508-124254526
5	MAFK	chr5:124254325-124254664	H1-hESC	embryonic stem cell:	n/a	chr5:124254509-124254524

Variant related genes	Relation type
ENSG00000249423	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17254960	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17448900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17448948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17514006	0.84[EUR][1000 genomes]
rs17514201	0.88[EUR][1000 genomes]
rs17514388	0.88[EUR][1000 genomes]
rs57063427	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60383340	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6864634	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6880658	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6897935	0.90[EUR][1000 genomes]
rs73302753	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302755	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73302776	0.90[EUR][1000 genomes]
rs73302778	0.90[EUR][1000 genomes]
rs73302783	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs73302800	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73304713	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73304720	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7736156	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882822	chr5:124250018-124449375	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr5:124249200-124254800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:124249400-124263200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:124251200-124259400	Enhancers	Dnd41	blood
4	chr5:124254000-124254400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:124254000-124254800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr5:124254000-124257200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:124254000-124259800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:124254000-124260200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:124254200-124254400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:124254200-124254400	Enhancers	Fetal Lung	lung
11	chr5:124254200-124255200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:124254200-124256000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:124254200-124256200	Enhancers	Brain Anterior Caudate	brain
14	chr5:124254200-124257600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr5:124254200-124259200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:124254200-124259200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:124254200-124259400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:124254200-124259400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr5:124254200-124259600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:124254200-124259600	Enhancers	Brain Substantia Nigra	brain
21	chr5:124254200-124259800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:124254200-124259800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:124254200-124259800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:124254200-124259800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:124254200-124259800	Enhancers	Brain Hippocampus Middle	brain
26	chr5:124254200-124260400	Enhancers	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links