Variant report

Variant	rs10943596
Chromosome Location	chr6:79575292-79575293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:79568772..79571138-chr6:79573163..79575541,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1027813	0.83[ASN][1000 genomes]
rs10755377	0.86[EUR][1000 genomes]
rs10943600	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10943608	0.85[EUR][1000 genomes]
rs11752126	0.82[EUR][1000 genomes]
rs12153837	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12193319	0.83[ASN][1000 genomes]
rs12196457	0.87[EUR][1000 genomes]
rs12196485	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1567167	0.87[ASN][1000 genomes]
rs1960542	0.89[ASN][1000 genomes]
rs2063123	0.85[EUR][1000 genomes]
rs2321895	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2874643	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35887627	0.82[EUR][1000 genomes]
rs36128361	0.83[EUR][1000 genomes]
rs3902856	0.81[EUR][1000 genomes]
rs4147183	0.89[ASN][1000 genomes]
rs4415132	0.87[ASN][1000 genomes]
rs4421161	0.89[ASN][1000 genomes]
rs4706743	0.88[EUR][1000 genomes]
rs4706746	0.85[EUR][1000 genomes]
rs6912683	0.82[ASN][1000 genomes]
rs6926537	0.89[ASN][1000 genomes]
rs6937465	0.87[ASN][1000 genomes]
rs9341754	0.83[ASN][1000 genomes]
rs9343843	0.83[ASN][1000 genomes]
rs9343844	0.82[ASN][1000 genomes]
rs9350792	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9352663	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9352664	0.87[ASN][1000 genomes]
rs9352665	0.87[ASN][1000 genomes]
rs9352666	0.89[ASN][1000 genomes]
rs9352667	0.89[ASN][1000 genomes]
rs9352669	0.83[ASN][1000 genomes]
rs9352670	0.83[ASN][1000 genomes]
rs9359354	0.82[ASN][1000 genomes]
rs9359360	0.81[EUR][1000 genomes]
rs9359362	0.81[EUR][1000 genomes]
rs9361451	0.89[ASN][1000 genomes]
rs9361454	0.89[ASN][1000 genomes]
rs9361455	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9361460	0.82[ASN][1000 genomes]
rs9361477	0.80[EUR][1000 genomes]
rs9443621	0.85[ASN][1000 genomes]
rs9443622	0.83[ASN][1000 genomes]
rs9448580	0.83[ASN][1000 genomes]
rs9448584	0.89[ASN][1000 genomes]
rs9448587	0.81[ASN][1000 genomes]
rs9448588	0.82[ASN][1000 genomes]
rs971994	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015352	chr6:79521820-79757024	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1839807	chr6:79532610-79606615	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv970379	chr6:79571879-79578296	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10943596	IRAK1BP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79555800-79576400	Weak transcription	Left Ventricle	heart
2	chr6:79563000-79576200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:79564200-79576200	Weak transcription	Right Ventricle	heart
4	chr6:79566200-79576400	Weak transcription	Gastric	stomach
5	chr6:79568800-79576400	Weak transcription	Pancreas	Pancrea
6	chr6:79569800-79576800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:79571600-79576400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:79573000-79576400	Weak transcription	Primary B cells from cord blood	blood
9	chr6:79573600-79576400	Weak transcription	Small Intestine	intestine
10	chr6:79574600-79578400	Active TSS	K562	blood
11	chr6:79575000-79576200	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links