Variant report

Variant	rs9568195
Chromosome Location	chr13:49976393-49976394
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12184585	0.81[ASN][1000 genomes]
rs2181328	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430559	chr13:49930369-50059354	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv430560	chr13:49930643-50059354	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv430562	chr13:49930643-50067246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv430564	chr13:49945247-50059354	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv430571	chr13:49961137-50059354	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9568195	CAB39L	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49971800-49976400	Active TSS	Stomach Smooth Muscle	stomach
2	chr13:49972000-49976400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr13:49972200-49976400	Active TSS	Aorta	Aorta
4	chr13:49975600-49978200	Weak transcription	Fetal Intestine Small	intestine
5	chr13:49975600-49993600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr13:49975600-50001000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:49975800-49976400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr13:49975800-49976400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr13:49975800-49976400	Enhancers	NHLF	lung
10	chr13:49975800-49976600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:49975800-49976600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr13:49975800-49978000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:49975800-49978200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr13:49975800-49978200	Weak transcription	Gastric	stomach
15	chr13:49975800-49978200	Weak transcription	Left Ventricle	heart
16	chr13:49975800-49978200	Weak transcription	Psoas Muscle	Psoas
17	chr13:49975800-49978400	Weak transcription	Pancreas	Pancrea
18	chr13:49975800-49978400	Weak transcription	HSMMtube	muscle
19	chr13:49975800-49978600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr13:49975800-49983400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr13:49975800-49987600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:49975800-49991000	Weak transcription	Right Ventricle	heart
23	chr13:49975800-50001600	Weak transcription	Fetal Stomach	stomach
24	chr13:49975800-50013600	Weak transcription	Primary B cells from cord blood	blood
25	chr13:49976000-49976400	Weak transcription	Brain Angular Gyrus	brain
26	chr13:49976000-49976600	Enhancers	Fetal Heart	heart
27	chr13:49976000-49978200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:49976000-49979000	Weak transcription	NHDF-Ad	bronchial
29	chr13:49976000-49983000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:49976000-49992800	Weak transcription	Ovary	ovary
31	chr13:49976200-49976600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:49976200-49976600	Enhancers	Brain Cingulate Gyrus	brain
33	chr13:49976200-49976600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr13:49976200-49976600	Enhancers	Right Atrium	heart
35	chr13:49976200-49976800	Enhancers	Colon Smooth Muscle	Colon
36	chr13:49976200-49977200	Enhancers	Rectal Smooth Muscle	rectum
37	chr13:49976200-49977800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:49976200-49978200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:49976200-49978200	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links