Variant report

Variant	rs6731793
Chromosome Location	chr2:74350441-74350442
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74347130..74350614-chr2:74373490..74375151,4	K562	blood:
2	chr2:74345450..74348445-chr2:74349151..74350863,2	MCF-7	breast:
3	chr2:74345336..74350949-chr2:74424473..74426826,5	K562	blood:
4	chr2:74335555..74337935-chr2:74348747..74350804,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163170	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000225439	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11675066	0.96[ASN][1000 genomes]
rs12478482	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12619982	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13413795	0.84[EUR][1000 genomes]
rs2122290	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2177707	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2280642	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2280643	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2280644	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4429500	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4452177	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4563249	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4852329	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4853010	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4853011	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4853012	0.87[ASN][1000 genomes]
rs58759652	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59570457	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60291089	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60330274	0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs60705299	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60964317	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61521879	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6707619	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6707729	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6715351	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72911122	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72915068	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	nsv874285	chr2:74283728-74355244	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription 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	76 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs6731793	MGC10955	cis	Adipose Subcutaneous	GTEx
rs6731793	MGC10955	cis	Stomach	GTEx
rs6731793	MGC10955	cis	Nerve Tibial	GTEx
rs6731793	FNBP1P1	cis	Artery Tibial	GTEx
rs6731793	MGC10955	cis	Esophagus Muscularis	GTEx
rs6731793	FNBP1P1	cis	Skin Sun Exposed Lower leg	GTEx
rs6731793	FNBP1P1	cis	Stomach	GTEx
rs6731793	FNBP1P1	cis	Muscle Skeletal	GTEx
rs6731793	FNBP1P1	cis	lung	GTEx
rs6731793	FNBP1P1	cis	Esophagus Muscularis	GTEx
rs6731793	MGC10955	cis	Artery Tibial	GTEx
rs6731793	MGC10955	cis	Esophagus Mucosa	GTEx
rs6731793	FNBP1P1	cis	Esophagus Mucosa	GTEx
rs6731793	FNBP1P1	cis	Artery Aorta	GTEx
rs6731793	MGC10955	cis	Whole Blood	GTEx
rs6731793	MGC10955	cis	Artery Aorta	GTEx
rs6731793	MGC10955	cis	lung	GTEx
rs6731793	MGC10955	cis	Skin Sun Exposed Lower leg	GTEx
rs6731793	MGC10955	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74348000-74357400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:74348200-74355000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:74348200-74360400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:74348200-74367600	Weak transcription	Brain Anterior Caudate	brain
5	chr2:74348600-74361800	Weak transcription	Hela-S3	cervix
6	chr2:74348800-74360400	Weak transcription	Primary T cells from cord blood	blood
7	chr2:74350000-74351000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr2:74350200-74350800	ZNF genes & repeats	Brain Substantia Nigra	brain
9	chr2:74350200-74351200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links