Variant report

Variant	rs2148527
Chromosome Location	chr13:51809556-51809557
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10492520	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs12427834	1.00[ASW][hapmap]
rs12427843	1.00[ASW][hapmap]
rs12584566	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs2408301	1.00[CEU][hapmap];0.94[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9563039	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9568554	0.82[AMR][1000 genomes]
rs9568557	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568558	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832610	chr13:51636661-51822106	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832611	chr13:51766472-51938314	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2148527	EGFL6	trans	lymphoblastoid	seeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51799600-51809800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:51799800-51818200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr13:51803600-51809800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr13:51805000-51809800	Weak transcription	Lung	lung
5	chr13:51805200-51809600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:51805200-51809800	Weak transcription	Left Ventricle	heart
7	chr13:51805200-51809800	Weak transcription	Right Atrium	heart
8	chr13:51805200-51825600	Weak transcription	Aorta	Aorta
9	chr13:51805400-51809800	Weak transcription	Adipose Nuclei	Adipose
10	chr13:51805400-51810600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:51805800-51809600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:51805800-51809800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr13:51806000-51809800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:51806000-51810000	Weak transcription	Fetal Brain Male	brain
15	chr13:51806200-51814000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr13:51807200-51810000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr13:51807400-51809800	Weak transcription	Colon Smooth Muscle	Colon
18	chr13:51807400-51810200	Genic enhancers	HUES48 Cell Line	embryonic stem cell
19	chr13:51807600-51810000	Weak transcription	Spleen	Spleen
20	chr13:51808000-51810200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr13:51808000-51810200	Enhancers	Brain Hippocampus Middle	brain
22	chr13:51808000-51810200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr13:51808000-51810400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:51808000-51810600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
25	chr13:51808000-51812600	Enhancers	Brain Cingulate Gyrus	brain
26	chr13:51808000-51821200	Enhancers	Brain Substantia Nigra	brain
27	chr13:51808200-51810400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr13:51808200-51810600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
29	chr13:51808400-51810000	Strong transcription	Fetal Stomach	stomach
30	chr13:51808400-51810200	Enhancers	Fetal Kidney	kidney
31	chr13:51808400-51814400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:51808400-51821400	Enhancers	Fetal Heart	heart
33	chr13:51808600-51809800	Weak transcription	Brain Anterior Caudate	brain
34	chr13:51808600-51810000	Weak transcription	Brain Angular Gyrus	brain
35	chr13:51808600-51820000	Weak transcription	Fetal Brain Female	brain
36	chr13:51808800-51814000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr13:51808800-51816400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr13:51809000-51809800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr13:51809000-51809800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr13:51809000-51810400	Enhancers	HUVEC	blood vessel
41	chr13:51809000-51818200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr13:51809200-51809600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:51809200-51809600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr13:51809200-51809600	Weak transcription	Right Ventricle	heart
45	chr13:51809200-51809800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr13:51809200-51809800	Weak transcription	Pancreas	Pancrea
47	chr13:51809400-51809600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr13:51809400-51810000	Enhancers	Brain Germinal Matrix	brain
49	chr13:51809400-51810400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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