Variant report

Variant	rs632057
Chromosome Location	chr6:139834012-139834013
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139832742..139835243-chr6:139835600..139839246,3	K562	blood:
2	chr6:139694371..139697296-chr6:139832144..139835177,3	MCF-7	breast:
3	chr6:139811168..139812845-chr6:139833635..139836382,2	K562	blood:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11155072	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11155073	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17585887	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17585915	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2908522	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2982521	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3861397	0.99[ASN][1000 genomes]
rs4896468	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4896469	0.85[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap]
rs589235	0.87[ASN][1000 genomes]
rs592423	0.88[CHB][hapmap];0.84[CHD][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs605066	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs607342	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs608736	0.87[ASN][1000 genomes]
rs628751	0.87[CHB][hapmap];0.84[CHD][hapmap];0.87[ASN][1000 genomes]
rs634869	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs635243	0.82[ASN][1000 genomes]
rs635769	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643381	0.87[ASN][1000 genomes]
rs651837	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs654689	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs668459	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs672457	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679582	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71562509	0.89[ASN][1000 genomes]
rs9800462	0.85[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap]

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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1026819	chr6:139813809-139834012	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

Variant related diseases (count:2)

Disease	PMID	Source
Mean corpuscular hemoglobin	20139978	GWAS catalog
Mean corpuscular volume	20139978	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139829600-139835600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:139830600-139835600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:139831800-139836000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:139831800-139836000	Weak transcription	HepG2	liver
5	chr6:139832000-139836200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:139832000-139836400	Weak transcription	Adipose Nuclei	Adipose
7	chr6:139832000-139855200	Weak transcription	Right Atrium	heart
8	chr6:139832800-139835800	Weak transcription	Fetal Heart	heart

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