Variant report

Variant	rs7991335
Chromosome Location	chr13:49925365-49925366
allele	A/C
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	JUND	chr13:49925263-49925415	K562	blood:	n/a	chr13:49925388-49925398 chr13:49925388-49925398

Variant related genes	Relation type
CAB39L	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs6561520	0.85[EUR][1000 genomes]
rs7325632	0.90[CHB][hapmap]
rs7326978	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7981156	0.85[CHB][hapmap]
rs7984177	0.80[CHB][hapmap]
rs9535203	0.85[CHB][hapmap]
rs9535211	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs9568188	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1037	chr13:49919578-49926725	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7991335	CYSLTR2	cis	cerebellum	SCAN
rs7991335	CAB39L	cis	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49876200-49935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:49884600-49933600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr13:49884800-49925600	Weak transcription	Brain Substantia Nigra	brain
4	chr13:49885600-49933400	Weak transcription	Primary T cells from cord blood	blood
5	chr13:49885800-49926000	Weak transcription	Brain Germinal Matrix	brain
6	chr13:49889000-49944600	Weak transcription	Brain Angular Gyrus	brain
7	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr13:49889200-49933400	Weak transcription	Brain Anterior Caudate	brain
9	chr13:49889200-49944600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr13:49889600-49927400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:49895000-49927600	Weak transcription	NHLF	lung
12	chr13:49895600-49933200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr13:49895800-49935600	Weak transcription	Esophagus	oesophagus
14	chr13:49902800-49927600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:49904400-49929200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr13:49904400-49929400	Weak transcription	Fetal Brain Female	brain
17	chr13:49904600-49930800	Weak transcription	Aorta	Aorta
18	chr13:49912600-49948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr13:49913200-49932600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr13:49914800-49925600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:49915000-49929000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:49915000-49941400	Weak transcription	Brain Hippocampus Middle	brain
23	chr13:49918000-49925600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:49918000-49930000	Weak transcription	Osteobl	bone
25	chr13:49918200-49925600	Weak transcription	HSMM	muscle
26	chr13:49918200-49928000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:49918200-49928800	Weak transcription	Adipose Nuclei	Adipose
28	chr13:49922200-49937600	Weak transcription	Fetal Brain Male	brain
29	chr13:49922200-49937600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr13:49922400-49931800	Weak transcription	Left Ventricle	heart
31	chr13:49922400-49940800	Weak transcription	Lung	lung
32	chr13:49922400-49946600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:49922400-49947800	Weak transcription	Right Ventricle	heart
34	chr13:49922800-49951400	Weak transcription	Gastric	stomach
35	chr13:49923000-49925400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:49923000-49926400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr13:49923000-49935000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr13:49923200-49928600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr13:49923200-49929200	Weak transcription	Ovary	ovary
40	chr13:49923200-49930400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr13:49923200-49934800	Weak transcription	Fetal Stomach	stomach
42	chr13:49923200-49935000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr13:49923200-49937800	Weak transcription	Primary B cells from cord blood	blood
44	chr13:49923200-49951200	Weak transcription	Pancreas	Pancrea
45	chr13:49923400-49929000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr13:49924400-49925600	Enhancers	Fetal Heart	heart
47	chr13:49924400-49925800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr13:49925000-49930800	Weak transcription	Colon Smooth Muscle	Colon
49	chr13:49925000-49930800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr13:49925200-49925800	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links