Variant report

Variant	rs17448948
Chromosome Location	chr5:124257150-124257151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1031205	0.89[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
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]
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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124249400-124263200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124251200-124259400	Enhancers	Dnd41	blood
3	chr5:124254000-124257200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:124254000-124259800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:124254000-124260200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:124254200-124257600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr5:124254200-124259200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:124254200-124259200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr5:124254200-124259400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:124254200-124259400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:124254200-124259600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:124254200-124259600	Enhancers	Brain Substantia Nigra	brain
13	chr5:124254200-124259800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:124254200-124259800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:124254200-124259800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:124254200-124259800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:124254200-124259800	Enhancers	Brain Hippocampus Middle	brain
18	chr5:124254200-124260400	Enhancers	Brain Cingulate Gyrus	brain
19	chr5:124254400-124259400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:124254400-124259600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:124254600-124260200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:124255200-124258800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:124255200-124259600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr5:124255600-124259400	Enhancers	Fetal Brain Female	brain
25	chr5:124255800-124258000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr5:124256000-124258600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:124256200-124257200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:124256200-124257200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:124256200-124258000	Weak transcription	Fetal Stomach	stomach
30	chr5:124256200-124259600	Enhancers	Brain Angular Gyrus	brain
31	chr5:124256400-124257200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:124256600-124257200	Weak transcription	Fetal Lung	lung
33	chr5:124256600-124257600	Weak transcription	Brain Germinal Matrix	brain
34	chr5:124256600-124257800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:124256800-124257200	Active TSS	Primary B cells from peripheral blood	blood
36	chr5:124256800-124257200	Active TSS	GM12878-XiMat	blood
37	chr5:124256800-124257400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr5:124256800-124257800	Weak transcription	Brain Anterior Caudate	brain
39	chr5:124256800-124258000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr5:124256800-124258000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:124256800-124258200	Weak transcription	Stomach Mucosa	stomach
42	chr5:124257000-124257200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:124257000-124258000	Weak transcription	Fetal Intestine Small	intestine
44	chr5:124257000-124258200	Enhancers	NHEK	skin
45	chr5:124257000-124258400	Weak transcription	Fetal Kidney	kidney
46	chr5:124257000-124259200	Enhancers	Fetal Brain Male	brain

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