Variant report

Variant	rs1433216
Chromosome Location	chr4:124733305-124733306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1816419	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1816420	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2390587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3097911	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3097915	0.91[ASN][1000 genomes]
rs3097916	0.91[ASN][1000 genomes]
rs3097924	0.81[EUR][1000 genomes]
rs721455	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001751	chr4:124693346-124733305	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	esv2754745	chr4:124698055-124770865	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1433216	ANKRD50	cis	parietal	SCAN
rs1433216	FAT4	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124724200-124736000	Weak transcription	Aorta	Aorta
2	chr4:124731600-124741000	Weak transcription	Fetal Intestine Small	intestine
3	chr4:124732400-124733600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:124732600-124733400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:124732600-124733400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:124732600-124733600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:124732600-124733600	Enhancers	Rectal Smooth Muscle	rectum
8	chr4:124732600-124733600	Enhancers	Stomach Mucosa	stomach
9	chr4:124732800-124733400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:124732800-124733400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr4:124732800-124733400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr4:124732800-124733400	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr4:124732800-124733400	Active TSS	Fetal Kidney	kidney
14	chr4:124732800-124733400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr4:124732800-124733600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
16	chr4:124733000-124733400	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr4:124733000-124733400	Active TSS	Brain Anterior Caudate	brain
18	chr4:124733000-124733400	Active TSS	Brain Hippocampus Middle	brain
19	chr4:124733000-124733400	Active TSS	Brain Substantia Nigra	brain
20	chr4:124733000-124733400	Active TSS	Duodenum Mucosa	Duodenum
21	chr4:124733000-124733400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr4:124733000-124733400	Enhancers	GM12878-XiMat	blood
23	chr4:124733000-124733400	Flanking Active TSS	NHDF-Ad	bronchial
24	chr4:124733000-124733400	Flanking Active TSS	Osteobl	bone
25	chr4:124733000-124733600	Enhancers	Fetal Muscle Leg	muscle
26	chr4:124733000-124733600	Flanking Active TSS	Psoas Muscle	Psoas
27	chr4:124733000-124733600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr4:124733000-124733600	Enhancers	HSMM	muscle
29	chr4:124733000-124733600	Flanking Active TSS	HSMMtube	muscle
30	chr4:124733200-124733400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:124733200-124733400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr4:124733200-124733400	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr4:124733200-124733400	Active TSS	Colon Smooth Muscle	Colon
34	chr4:124733200-124733400	Enhancers	NHLF	lung
35	chr4:124733200-124733600	Weak transcription	Left Ventricle	heart
36	chr4:124733200-124733600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr4:124733200-124733600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links