Variant report

Variant	rs1730875
Chromosome Location	chr4:69174057-69174058
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	POLR2A	chr4:69173617-69177487	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:69173280-69174145	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:69167518..69169573-chr4:69172863..69174669,2	K562	blood:
2	chr4:69165664..69169018-chr4:69173169..69176114,3	K562	blood:

Variant related genes	Relation type
APOOP4	TF binding region
ENSG00000249531	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10005832	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10471153	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10866204	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11131746	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11732554	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11735530	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331971	1.00[ASN][1000 genomes]
rs13118902	0.85[AMR][1000 genomes]
rs13121372	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127027	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13148330	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1406695	0.90[EUR][1000 genomes]
rs1406696	0.90[EUR][1000 genomes]
rs17089240	0.94[CEU][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17089241	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1715086	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1730872	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1880183	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1919905	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1962172	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140519	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2319790	0.85[AMR][1000 genomes]
rs2319887	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28692777	0.82[AMR][1000 genomes]
rs34032921	0.90[EUR][1000 genomes]
rs34186169	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs34223548	0.90[EUR][1000 genomes]
rs34265565	0.85[EUR][1000 genomes]
rs34474886	0.85[EUR][1000 genomes]
rs34527218	0.90[EUR][1000 genomes]
rs34896019	0.90[EUR][1000 genomes]
rs35051311	0.92[EUR][1000 genomes]
rs35572241	0.85[AMR][1000 genomes]
rs3927373	0.82[EUR][1000 genomes]
rs4860292	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4860927	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4860932	0.88[EUR][1000 genomes]
rs4860933	0.90[EUR][1000 genomes]
rs4860934	0.90[EUR][1000 genomes]
rs4860935	0.87[EUR][1000 genomes]
rs56264769	0.85[AMR][1000 genomes]
rs62316198	0.84[AMR][1000 genomes]
rs62316204	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6552179	0.83[ASN][1000 genomes]
rs6822778	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7658151	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7671950	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7672364	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7696268	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs953794	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953795	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9990842	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9991215	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv461546	chr4:69049643-69223057	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv594506	chr4:69049643-69223057	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv537132	chr4:69149648-69482831	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1730875	UTP3	cis	cerebellum	SCAN
rs1730875	YTHDC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69167000-69179400	Weak transcription	HepG2	liver
2	chr4:69169200-69176000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:69172800-69176200	Weak transcription	HSMM	muscle
4	chr4:69173000-69176200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:69173200-69176400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:69173400-69178600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:69173600-69176200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:69173600-69176400	Weak transcription	Primary B cells from cord blood	blood
9	chr4:69173600-69176400	Weak transcription	HSMMtube	muscle
10	chr4:69173800-69176600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:69174000-69176600	Weak transcription	Left Ventricle	heart
12	chr4:69174000-69178000	Weak transcription	Osteobl	bone
13	chr4:69174000-69182000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:69174000-69182000	Weak transcription	Esophagus	oesophagus
15	chr4:69174000-69182600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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