Variant report

Variant	rs55633371
Chromosome Location	chr6:73337185-73337186
allele	C/T
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: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10484913	0.84[EUR][1000 genomes]
rs10485213	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10943043	1.00[ASN][1000 genomes]
rs10943048	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10943051	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10943055	0.86[EUR][1000 genomes]
rs11758568	1.00[ASN][1000 genomes]
rs11759937	0.87[EUR][1000 genomes]
rs12189974	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12190091	1.00[ASN][1000 genomes]
rs12191216	0.82[EUR][1000 genomes]
rs12197962	0.82[EUR][1000 genomes]
rs12200468	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12204989	0.84[EUR][1000 genomes]
rs12205254	1.00[ASN][1000 genomes]
rs12205834	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12208907	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12212562	1.00[ASN][1000 genomes]
rs12214894	1.00[ASN][1000 genomes]
rs12214895	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12215865	0.82[EUR][1000 genomes]
rs12374630	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17692715	1.00[ASN][1000 genomes]
rs17692874	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17692898	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17729195	0.86[EUR][1000 genomes]
rs17749408	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17749420	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17796704	0.81[EUR][1000 genomes]
rs34821312	1.00[ASN][1000 genomes]
rs55826353	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56086224	1.00[ASN][1000 genomes]
rs56254477	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56316829	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411975	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411984	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411990	0.81[EUR][1000 genomes]
rs6453592	1.00[ASN][1000 genomes]
rs6453593	1.00[ASN][1000 genomes]
rs6453594	1.00[ASN][1000 genomes]
rs6922524	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922932	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935174	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs719830	0.81[EUR][1000 genomes]
rs72935423	0.87[EUR][1000 genomes]
rs7768673	1.00[ASN][1000 genomes]
rs7776215	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	chr6:73334200-73337200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:73334400-73337200	Weak transcription	NHEK	skin
4	chr6:73334400-73346400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:73334400-73358800	Weak transcription	HSMM	muscle
6	chr6:73334600-73356200	Weak transcription	HMEC	breast
7	chr6:73335200-73339400	Weak transcription	Fetal Brain Female	brain
8	chr6:73335800-73342800	Weak transcription	Primary T cells from cord blood	blood
9	chr6:73336000-73337400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:73336200-73359000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:73336200-73362800	Weak transcription	Primary B cells from cord blood	blood
12	chr6:73336400-73337400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:73336400-73338600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:73336600-73337400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:73336800-73337200	Active TSS	GM12878-XiMat	blood

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