Variant report

Variant	rs17124570
Chromosome Location	chr11:120805056-120805057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120804744..120805510-chr11:121065438..121066046,3	K562	blood:
2	chr11:120804961..120805773-chr11:120823455..120824151,4	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10892647	0.91[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10892648	0.86[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10892651	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11218066	0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11218068	0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11218069	0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11218070	0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];0.80[YRI][hapmap];0.91[ASN][1000 genomes]
rs11218071	0.91[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];0.80[YRI][hapmap];0.91[ASN][1000 genomes]
rs11218072	0.91[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.80[LWK][hapmap];0.80[YRI][hapmap];0.91[ASN][1000 genomes]
rs11218074	0.91[ASN][1000 genomes]
rs11218075	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12361041	0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs12419730	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17124575	0.90[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2186621	0.92[ASN][1000 genomes]
rs35024210	0.92[ASN][1000 genomes]
rs3781816	0.95[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3781817	0.91[CHB][hapmap];0.83[CHD][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs4935757	0.91[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs4936565	0.90[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4936566	0.90[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7113018	0.82[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73007850	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73007893	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs73007896	0.92[ASN][1000 genomes]
rs7926317	0.95[CHB][hapmap];0.85[JPT][hapmap];0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7939524	0.95[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042469	chr11:120799275-120846585	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv541183	chr11:120799275-120846585	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17124570	ABCG4	cis	parietal	SCAN
rs17124570	IFT46	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120800200-120808200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:120800400-120808400	Weak transcription	Brain Anterior Caudate	brain
3	chr11:120800600-120815200	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:120801000-120811400	Weak transcription	Fetal Lung	lung
5	chr11:120802200-120823200	Weak transcription	Ovary	ovary
6	chr11:120803400-120805600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr11:120803600-120808400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:120804000-120805200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:120805000-120805200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:120805000-120805200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:120805000-120805400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:120805000-120805400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:120805000-120805400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:120805000-120805600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:120805000-120805800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:120805000-120805800	Bivalent Enhancer	Fetal Muscle Leg	muscle

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