Variant report

Variant	rs6950949
Chromosome Location	chr7:27740201-27740202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11763499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11766320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11973028	0.81[CHB][hapmap]
rs17155666	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17611937	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17685046	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2108309	0.83[CHB][hapmap];0.80[ASN][1000 genomes]
rs2237337	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2285930	0.84[CEU][hapmap]
rs2391486	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55714615	0.94[EUR][1000 genomes]
rs55738305	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56137979	0.93[EUR][1000 genomes]
rs61538692	0.93[EUR][1000 genomes]
rs62449631	0.92[EUR][1000 genomes]
rs62454807	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62454947	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6462043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957836	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958125	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974060	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6974991	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808062	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs960293	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs960294	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs9638846	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9638847	0.93[EUR][1000 genomes]
rs9639563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9639564	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6950949	TAX1BP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27729600-27742200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr7:27734200-27742600	Weak transcription	Osteobl	bone
3	chr7:27738000-27742400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:27738200-27749000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:27740200-27740400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:27740200-27740600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:27740200-27740800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:27740200-27740800	Active TSS	Brain Anterior Caudate	brain
9	chr7:27740200-27740800	Enhancers	Brain Hippocampus Middle	brain
10	chr7:27740200-27740800	Enhancers	Fetal Brain Female	brain
11	chr7:27740200-27741000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:27740200-27741000	Enhancers	Brain Cingulate Gyrus	brain
13	chr7:27740200-27741000	Enhancers	Brain Substantia Nigra	brain

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