Variant report

Variant	rs4711390
Chromosome Location	chr6:34286424-34286425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34283435..34288525-chr6:34290742..34294904,6	K562	blood:
2	chr6:34277286..34279366-chr6:34285651..34287464,2	K562	blood:
3	chr6:34214953..34217235-chr6:34283214..34286512,3	K562	blood:
4	chr6:34285140..34288176-chr6:34300410..34302551,3	MCF-7	breast:
5	chr6:34284086..34287812-chr6:34358809..34361485,3	K562	blood:
6	chr6:34209005..34211629-chr6:34285678..34287201,2	K562	blood:

Variant related genes	Relation type
ENSG00000272325	Chromatin interaction
ENSG00000186577	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12662460	0.83[ASN][1000 genomes]
rs12664001	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12665397	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1573905	1.00[CEU][hapmap]
rs16885998	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16889706	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16889714	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs206919	0.89[CHD][hapmap];0.82[JPT][hapmap]
rs206921	0.89[CHD][hapmap];0.86[JPT][hapmap]
rs206936	0.87[CHD][hapmap];0.86[JPT][hapmap]
rs206942	0.84[CHD][hapmap]
rs2071928	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34384951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3778077	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3798560	0.89[CHD][hapmap];0.82[JPT][hapmap]
rs3798562	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3798564	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs414739	0.82[JPT][hapmap]
rs464553	0.87[CHD][hapmap];0.82[JPT][hapmap]
rs4713766	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4713770	0.82[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4713772	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713773	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4713775	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4713776	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4713777	0.87[CHB][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs4713780	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4713781	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4713783	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4713784	1.00[CEU][hapmap];0.87[MEX][hapmap]
rs4713793	0.91[MEX][hapmap]
rs58648597	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59310759	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60100381	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs611928	0.86[CHD][hapmap]
rs62399909	0.83[ASN][1000 genomes]
rs6909732	1.00[CEU][hapmap]
rs6912971	0.87[CHD][hapmap];0.82[JPT][hapmap]
rs6924682	0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6925243	0.83[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs6930978	0.86[CHD][hapmap]
rs6935129	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7752035	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7767431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9394200	1.00[CEU][hapmap]

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	esv1798756	chr6:34203406-34319041	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers 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	53 gene(s)	inside rSNPs	diseases
2	esv1798835	chr6:34204183-34319041	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv1792088	chr6:34204285-34318837	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1793127	chr6:34204285-34319041	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv1794528	chr6:34267024-34308816	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4711390	RPS10	cis	lymphoblastoid	seeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34261800-34330800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:34262000-34286600	Weak transcription	Gastric	stomach
3	chr6:34262000-34289000	Weak transcription	Hela-S3	cervix
4	chr6:34262000-34292800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:34262200-34295400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:34262200-34301200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:34262800-34290800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:34263800-34288400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:34264000-34299000	Weak transcription	Dnd41	blood
10	chr6:34269600-34286800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:34272600-34288200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:34274400-34306400	Weak transcription	Brain Germinal Matrix	brain
13	chr6:34274400-34309000	Weak transcription	NHDF-Ad	bronchial
14	chr6:34275200-34298000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:34275400-34286800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:34275400-34289400	Weak transcription	HUVEC	blood vessel
17	chr6:34275800-34299600	Weak transcription	Lung	lung
18	chr6:34276200-34286800	Weak transcription	Ovary	ovary
19	chr6:34276400-34287000	Weak transcription	HepG2	liver
20	chr6:34280800-34295600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:34281400-34288200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:34282400-34287200	Enhancers	Primary hematopoietic stem cells	blood
23	chr6:34282600-34287600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:34283600-34286600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:34283800-34287000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:34284000-34287000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr6:34284000-34287000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:34284000-34287200	Enhancers	Primary B cells from cord blood	blood
29	chr6:34284000-34287400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:34284000-34287800	Enhancers	Primary B cells from peripheral blood	blood
31	chr6:34284000-34288000	Enhancers	Fetal Heart	heart
32	chr6:34284000-34301600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr6:34284000-34308200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:34284200-34286600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr6:34284200-34287000	Enhancers	Brain Anterior Caudate	brain
36	chr6:34284200-34287200	Enhancers	Colon Smooth Muscle	Colon
37	chr6:34284200-34287400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:34284400-34287000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:34284400-34287200	Enhancers	Adipose Nuclei	Adipose
40	chr6:34284400-34287600	Enhancers	Right Atrium	heart
41	chr6:34284600-34286600	Weak transcription	Right Ventricle	heart
42	chr6:34284600-34293000	Weak transcription	Fetal Brain Female	brain
43	chr6:34284600-34300400	Weak transcription	Primary T cells from cord blood	blood
44	chr6:34284800-34287600	Enhancers	Fetal Lung	lung
45	chr6:34284800-34289400	Enhancers	Fetal Intestine Large	intestine
46	chr6:34284800-34292600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:34284800-34299000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr6:34284800-34310800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr6:34285000-34286600	Weak transcription	Aorta	Aorta
50	chr6:34285000-34286600	Enhancers	Osteobl	bone

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