Variant report

Variant	rs6922932
Chromosome Location	chr6:73327521-73327522
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	KAP1	chr6:73327422-73328353	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73326966..73327836-chr6:73839389..73839934,2	MCF-7	breast:
2	chr6:73326755..73329181-chr6:73329336..73331379,2	K562	blood:

Variant related genes	Relation type
KCNQ5	TF binding region

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	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10943043	1.00[ASN][1000 genomes]
rs10943048	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10943051	0.86[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	0.87[EUR][1000 genomes]
rs12190091	1.00[ASN][1000 genomes]
rs12191216	0.82[EUR][1000 genomes]
rs12197962	0.82[EUR][1000 genomes]
rs12200468	0.96[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	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12208907	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12212562	1.00[ASN][1000 genomes]
rs12214894	1.00[ASN][1000 genomes]
rs12214895	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12215865	0.82[EUR][1000 genomes]
rs12374630	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17692715	1.00[ASN][1000 genomes]
rs17692874	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17692898	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17729195	0.86[EUR][1000 genomes]
rs17749408	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17749420	0.96[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]
rs55633371	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55826353	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56086224	1.00[ASN][1000 genomes]
rs56254477	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56316829	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411975	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411984	0.94[AFR][1000 genomes];0.96[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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6935174	0.83[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	chr6:73323800-73328800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr6:73324600-73329400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:73326200-73329400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:73326400-73329000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:73326400-73329200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:73326600-73328800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr6:73326600-73329000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:73326600-73329000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:73326600-73329200	Weak transcription	Primary B cells from cord blood	blood
10	chr6:73326800-73328800	Weak transcription	Fetal Heart	heart
11	chr6:73327000-73328400	Weak transcription	Primary T cells from cord blood	blood
12	chr6:73327400-73327600	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr6:73327400-73327800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr6:73327400-73328200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr6:73327400-73328200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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