Variant report

Variant	rs58816739
Chromosome Location	chr6:73337208-73337209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:73337104-73337519	GM12878	blood:	n/a	n/a
2	WRNIP1	chr6:73336987-73337820	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:73336496..73338956-chr6:73352986..73355194,2	K562	blood:
2	chr6:73331830..73337292-chr6:73338860..73341706,8	K562	blood:
3	chr6:73270540..73272055-chr6:73334737..73337247,2	K562	blood:

Variant related genes	Relation type
KCNQ5-IT1	TF binding region
ENSG00000233844	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16882712	0.89[EUR][1000 genomes]
rs17692055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17692606	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17748888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17748966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55791694	0.89[EUR][1000 genomes]
rs56897294	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57822223	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58599475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60412240	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60620751	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62411982	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6453597	0.89[EUR][1000 genomes]
rs6918661	0.86[EUR][1000 genomes]
rs6938189	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73531872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73533641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73533649	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73533670	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73533685	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73535764	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73535765	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73535768	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73535770	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73535771	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73537767	0.89[EUR][1000 genomes]
rs73537781	0.89[EUR][1000 genomes]
rs73756018	0.89[EUR][1000 genomes]
rs7758797	0.87[EUR][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	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3347486	chr6:73283590-73445976	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73333800-73350800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:73334400-73346400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:73334400-73358800	Weak transcription	HSMM	muscle
4	chr6:73334600-73356200	Weak transcription	HMEC	breast
5	chr6:73335200-73339400	Weak transcription	Fetal Brain Female	brain
6	chr6:73335800-73342800	Weak transcription	Primary T cells from cord blood	blood
7	chr6:73336000-73337400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:73336200-73359000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr6:73336200-73362800	Weak transcription	Primary B cells from cord blood	blood
10	chr6:73336400-73337400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:73336400-73338600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:73336600-73337400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:73337200-73337400	Enhancers	NHEK	skin
14	chr6:73337200-73337800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:73337200-73337800	Flanking Active TSS	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links