Variant report

Variant	rs2031936
Chromosome Location	chr14:25579672-25579673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10146559	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147239	0.86[JPT][hapmap]
rs12432850	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1571465	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17257773	0.86[JPT][hapmap]
rs1952503	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1958390	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1958391	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2031938	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2031939	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4644786	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61979909	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61979910	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8006005	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8020810	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs928075	0.90[AMR][1000 genomes];0.97[EUR][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	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3490801	chr14:25560793-25675699	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3490802	chr14:25560793-25675699	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2031936	DHRS1	cis	parietal	SCAN
rs2031936	PRMT5	cis	parietal	SCAN
rs2031936	NRL	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25577600-25579800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:25577600-25580000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr14:25577600-25580000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:25577600-25580200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:25577600-25581200	Enhancers	Fetal Heart	heart
6	chr14:25577800-25580200	Enhancers	HSMM	muscle
7	chr14:25577800-25580400	Enhancers	HSMMtube	muscle
8	chr14:25577800-25580800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:25577800-25580800	Enhancers	Brain Hippocampus Middle	brain
10	chr14:25577800-25581200	Enhancers	NHLF	lung
11	chr14:25577800-25582600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr14:25578000-25580200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:25578000-25580400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:25578000-25580600	Enhancers	Osteobl	bone
15	chr14:25578000-25580800	Enhancers	Brain Substantia Nigra	brain
16	chr14:25578000-25581200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:25578200-25580600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:25578400-25580200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:25578400-25580600	Weak transcription	Right Atrium	heart
20	chr14:25578400-25580800	Enhancers	Brain Cingulate Gyrus	brain
21	chr14:25578400-25583400	Weak transcription	Psoas Muscle	Psoas
22	chr14:25578600-25580200	Weak transcription	Pancreas	Pancrea
23	chr14:25578600-25580600	Weak transcription	Left Ventricle	heart
24	chr14:25578600-25580600	Weak transcription	Right Ventricle	heart
25	chr14:25578600-25580600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr14:25578600-25582000	Weak transcription	Stomach Mucosa	stomach
27	chr14:25578600-25583600	Weak transcription	Gastric	stomach
28	chr14:25578800-25580400	Weak transcription	Fetal Lung	lung
29	chr14:25579200-25580200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:25579200-25580200	Weak transcription	Fetal Intestine Large	intestine
31	chr14:25579200-25580400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:25579200-25580400	Enhancers	NH-A	brain
33	chr14:25579200-25580800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr14:25579200-25581200	Enhancers	Fetal Muscle Leg	muscle
35	chr14:25579400-25579800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:25579400-25580400	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:25579400-25582600	Weak transcription	Fetal Intestine Small	intestine
38	chr14:25579600-25579800	Flanking Active TSS	NHDF-Ad	bronchial
39	chr14:25579600-25580000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:25579600-25580000	Weak transcription	Brain Anterior Caudate	brain
41	chr14:25579600-25580200	Enhancers	Brain Angular Gyrus	brain
42	chr14:25579600-25580400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:25579600-25580800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr14:25579600-25580800	Enhancers	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links