Variant report

Variant	rs7513247
Chromosome Location	chr1:150489558-150489559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150254103..150255766-chr1:150487973..150490880,2	MCF-7	breast:
2	chr1:150458274..150463765-chr1:150483214..150490747,8	K562	blood:
3	chr1:150488672..150491336-chr1:150533266..150536212,3	K562	blood:
4	chr1:150458065..150461622-chr1:150486691..150490573,5	MCF-7	breast:
5	chr1:150487333..150489679-chr1:150520233..150523176,3	MCF-7	breast:
6	chr1:150489113..150492818-chr1:150530627..150535563,5	K562	blood:
7	chr1:150488300..150489850-chr1:150945808..150948480,2	MCF-7	breast:
8	chr1:150488378..150490694-chr1:150500940..150503568,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000203804	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000143418	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000159208	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10888583	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10888584	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11205370	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11205371	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11205373	0.80[EUR][1000 genomes]
rs11205375	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11205382	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11205384	0.83[AMR][1000 genomes]
rs11205387	0.95[ASN][1000 genomes]
rs11581786	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12023277	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12031973	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12049177	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1260391	0.80[AMR][1000 genomes]
rs1260419	0.82[AMR][1000 genomes]
rs1260420	0.82[AMR][1000 genomes]
rs1260424	0.82[AMR][1000 genomes]
rs1262432	0.82[AMR][1000 genomes]
rs12731296	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12736375	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1566225	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1815545	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1932934	0.82[EUR][1000 genomes]
rs2012751	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2133129	0.80[AMR][1000 genomes]
rs2264417	0.82[AMR][1000 genomes]
rs2275246	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35705743	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35784258	0.81[AMR][1000 genomes]
rs3754214	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3754217	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3850844	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4446975	0.83[EUR][1000 genomes]
rs4451552	0.83[EUR][1000 genomes]
rs4926395	0.80[EUR][1000 genomes]
rs4926435	0.87[AMR][1000 genomes]
rs4970922	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4970963	0.83[ASN][1000 genomes]
rs4970964	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4970971	0.83[EUR][1000 genomes]
rs4970979	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5011187	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6664703	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6678973	0.82[AMR][1000 genomes]
rs6684939	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6687311	0.85[AMR][1000 genomes]
rs6699093	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs696617	0.81[AMR][1000 genomes]
rs698920	0.82[AMR][1000 genomes]
rs698921	0.82[AMR][1000 genomes]
rs698922	0.82[AMR][1000 genomes]
rs7411534	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7513182	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7553647	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs832621	0.80[EUR][1000 genomes]
rs834235	0.82[AMR][1000 genomes]
rs834237	0.82[AMR][1000 genomes]
rs834238	0.82[AMR][1000 genomes]
rs863862	0.80[AMR][1000 genomes]
rs875514	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9436009	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9436010	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9436116	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9436118	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9436120	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9436122	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9661040	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7513247	MRPS21	cis	Thyroid	GTEx
rs7513247	MRPS21	cis	lung	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150487400-150489600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:150488400-150490200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:150488800-150489600	Enhancers	Liver	Liver
4	chr1:150488800-150489600	Flanking Active TSS	K562	blood
5	chr1:150489000-150489600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr1:150489000-150489600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:150489000-150489600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:150489000-150489600	Enhancers	Placenta	Placenta
9	chr1:150489000-150489600	Enhancers	Fetal Stomach	stomach
10	chr1:150489000-150489600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr1:150489000-150490000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:150489000-150490200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:150489000-150490200	Weak transcription	Spleen	Spleen
14	chr1:150489000-150490800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:150489000-150494800	Weak transcription	Esophagus	oesophagus
16	chr1:150489000-150505400	Weak transcription	Right Ventricle	heart
17	chr1:150489200-150489600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:150489200-150489600	Enhancers	Fetal Thymus	thymus
19	chr1:150489200-150489600	Flanking Active TSS	HepG2	liver
20	chr1:150489200-150490000	Enhancers	NHEK	skin
21	chr1:150489200-150490200	Weak transcription	Brain Angular Gyrus	brain
22	chr1:150489200-150490200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:150489200-150490400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:150489200-150490400	Enhancers	Primary B cells from cord blood	blood
25	chr1:150489200-150490400	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:150489200-150490400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:150489200-150490600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:150489200-150494400	Weak transcription	Psoas Muscle	Psoas
29	chr1:150489200-150498200	Weak transcription	Fetal Intestine Small	intestine
30	chr1:150489200-150501800	Weak transcription	Right Atrium	heart
31	chr1:150489400-150489600	Enhancers	H1 Cell Line	embryonic stem cell
32	chr1:150489400-150489600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:150489400-150489600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:150489400-150489600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:150489400-150489600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:150489400-150489600	Enhancers	Brain Anterior Caudate	brain
37	chr1:150489400-150489800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:150489400-150489800	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:150489400-150489800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr1:150489400-150490000	Weak transcription	Stomach Mucosa	stomach
41	chr1:150489400-150490000	Enhancers	Stomach Smooth Muscle	stomach
42	chr1:150489400-150490400	Enhancers	GM12878-XiMat	blood
43	chr1:150489400-150497000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:150489400-150500200	Weak transcription	Osteobl	bone
45	chr1:150489400-150500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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