Variant report

Variant	rs7141424
Chromosome Location	chr14:69728898-69728899
allele	A/G
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	REST	chr14:69728561-69728901	SK-N-SH	brain:	n/a	chr14:69728737-69728746
2	CTBP2	chr14:69727025-69729465	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr14:69728854-69728915	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69716336..69718485-chr14:69728021..69730750,2	MCF-7	breast:
2	chr14:69727618..69729790-chr14:69814011..69815808,2	MCF-7	breast:
3	chr14:69727858..69730581-chr14:69738722..69740609,2	MCF-7	breast:
4	chr14:69728770..69731515-chr14:69782334..69785257,2	MCF-7	breast:
5	chr14:69725007..69726922-chr14:69727480..69730109,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258520	TF binding region
ENSG00000100626	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11629094	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12588610	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12590134	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1890939	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34842688	0.83[ASN][1000 genomes]
rs4902706	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56286938	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62637934	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720292	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7493080	0.96[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	esv3363263	chr14:69725949-69729047	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7141424	GPX2	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69726400-69729000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr14:69726400-69729000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
3	chr14:69727400-69729000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
4	chr14:69727600-69729000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:69727600-69729200	Enhancers	Fetal Heart	heart
6	chr14:69727800-69729200	Active TSS	Rectal Smooth Muscle	rectum
7	chr14:69727800-69729800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:69727800-69730200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr14:69728000-69729200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:69728200-69729000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:69728200-69729000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:69728200-69729000	Enhancers	Spleen	Spleen
13	chr14:69728200-69729000	Flanking Active TSS	HepG2	liver
14	chr14:69728200-69729000	Bivalent Enhancer	Osteobl	bone
15	chr14:69728200-69729400	Flanking Active TSS	NHDF-Ad	bronchial
16	chr14:69728200-69730200	Enhancers	HSMM	muscle
17	chr14:69728200-69730400	Enhancers	HSMMtube	muscle
18	chr14:69728200-69732200	Weak transcription	Aorta	Aorta
19	chr14:69728400-69729000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr14:69728400-69729000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr14:69728400-69729000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr14:69728400-69729400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:69728400-69729600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:69728400-69729600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:69728400-69729600	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr14:69728400-69730200	Enhancers	Brain Substantia Nigra	brain
27	chr14:69728400-69730800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr14:69728400-69733400	Weak transcription	Pancreas	Pancrea
29	chr14:69728600-69729000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr14:69728600-69729000	Bivalent Enhancer	Brain Germinal Matrix	brain
31	chr14:69728600-69729000	Bivalent Enhancer	Colonic Mucosa	Colon
32	chr14:69728600-69729000	Flanking Active TSS	Left Ventricle	heart
33	chr14:69728600-69729000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
34	chr14:69728600-69729200	Enhancers	Liver	Liver
35	chr14:69728600-69729200	Bivalent Enhancer	Brain Anterior Caudate	brain
36	chr14:69728600-69729200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr14:69728600-69729200	Enhancers	Right Ventricle	heart
38	chr14:69728600-69729600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr14:69728600-69729600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:69728600-69729600	Enhancers	Brain Angular Gyrus	brain
41	chr14:69728600-69730400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:69728600-69730600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr14:69728600-69730800	Enhancers	Right Atrium	heart
44	chr14:69728800-69729000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
45	chr14:69728800-69729000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
46	chr14:69728800-69729000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr14:69728800-69729000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr14:69728800-69729000	Bivalent Enhancer	Brain Hippocampus Middle	brain
49	chr14:69728800-69729000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
50	chr14:69728800-69729000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle

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