Variant report

Variant	rs1537230
Chromosome Location	chr6:38944196-38944197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:38944155..38947204-chr6:38949230..38952066,3	K562	blood:
2	chr6:38939906..38942695-chr6:38942827..38945177,2	K562	blood:
3	chr6:38914946..38917394-chr6:38943758..38945918,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12190140	1.00[ASW][hapmap]
rs12202871	0.83[CEU][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13210017	1.00[ASW][hapmap]
rs1412263	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1412265	0.91[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2281342	0.83[CEU][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4711568	0.92[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs4711569	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6919432	0.81[MEX][hapmap]
rs6919590	0.81[MEX][hapmap]
rs72857945	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9349103	1.00[ASW][hapmap]
rs9357291	1.00[ASW][hapmap];0.88[MEX][hapmap]
rs9357296	0.83[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs9357297	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9366987	0.95[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap]
rs9380809	1.00[ASW][hapmap]
rs9380812	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap]
rs9380814	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap]
rs9380825	0.83[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9394561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028088	chr6:38821047-39163549	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv538205	chr6:38821047-39163549	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv885821	chr6:38843970-39039503	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv948357	chr6:38920998-39035836	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1537230	MOCS1	cis	cerebellum	SCAN
rs1537230	CLPS	cis	cerebellum	SCAN
rs1537230	PTK7	cis	parietal	SCAN
rs1537230	UBR2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38941400-38945000	Enhancers	Fetal Heart	heart
2	chr6:38941400-38945200	Enhancers	Fetal Intestine Small	intestine
3	chr6:38941400-38945200	Enhancers	Fetal Lung	lung
4	chr6:38941400-38945400	Enhancers	Fetal Intestine Large	intestine
5	chr6:38942200-38945000	Enhancers	Stomach Mucosa	stomach
6	chr6:38942400-38944800	Enhancers	Colon Smooth Muscle	Colon
7	chr6:38942600-38945000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:38943400-38947000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:38944000-38944200	Weak transcription	Liver	Liver

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