Variant report

Variant	rs12584193
Chromosome Location	chr13:79970865-79970866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11617011	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11620233	0.83[AFR][1000 genomes]
rs12585625	0.81[ASN][1000 genomes]
rs12868295	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1886494	0.96[AFR][1000 genomes]
rs7331872	0.87[AFR][1000 genomes]
rs8001638	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][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	nsv832657	chr13:79904978-80099108	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12584193	RBM26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:79951200-79979200	Weak transcription	Esophagus	oesophagus
2	chr13:79951800-79978200	Weak transcription	Aorta	Aorta
3	chr13:79952600-79977800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:79958600-79971000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:79958800-79971000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:79958800-79977800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr13:79960600-79975600	Weak transcription	Ovary	ovary
8	chr13:79960800-79971400	Weak transcription	NHLF	lung
9	chr13:79962800-79973000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr13:79962800-79974400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr13:79967600-79972000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr13:79967800-79971000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:79968000-79972800	Weak transcription	NHEK	skin
14	chr13:79968000-79973000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr13:79968000-79975200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr13:79968000-79975800	Weak transcription	HMEC	breast
17	chr13:79968000-79976600	Weak transcription	Right Ventricle	heart
18	chr13:79968000-79977800	Weak transcription	Gastric	stomach
19	chr13:79968200-79972800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr13:79968200-79973400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:79968200-79974400	Weak transcription	Brain Angular Gyrus	brain
22	chr13:79968200-79974600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr13:79968200-79975600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr13:79968400-79971000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr13:79968400-79971800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:79968400-79972800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:79968400-79975800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr13:79968400-79977200	Weak transcription	Right Atrium	heart
29	chr13:79968400-79979200	Weak transcription	Lung	lung
30	chr13:79968600-79973000	Weak transcription	Adipose Nuclei	Adipose
31	chr13:79968600-79973000	Weak transcription	Liver	Liver
32	chr13:79968600-79973000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr13:79968600-79975600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr13:79968600-79976600	Weak transcription	Colon Smooth Muscle	Colon
35	chr13:79968600-79977800	Weak transcription	Spleen	Spleen
36	chr13:79968600-79978600	Weak transcription	Placenta	Placenta
37	chr13:79968600-79978600	Weak transcription	Pancreas	Pancrea
38	chr13:79968600-79979200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:79968800-79971800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:79968800-79974600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:79969000-79971200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr13:79969000-79971600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
43	chr13:79969000-79971600	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr13:79969000-79972000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:79969000-79972400	ZNF genes & repeats	GM12878-XiMat	blood
46	chr13:79969000-79973200	Weak transcription	Small Intestine	intestine
47	chr13:79969000-79976000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:79969200-79971000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:79969200-79971200	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr13:79969200-79971600	Strong transcription	Fetal Kidney	kidney

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