Variant report

Variant	rs6453593
Chromosome Location	chr6:73335287-73335288
allele	A/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	CHD1	chr6:73334368-73335413	GM12878	blood:	n/a	n/a
2	CUX1	chr6:73335111-73335540	GM12878	blood:	n/a	n/a
3	RAD21	chr6:73334103-73335354	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:73331830..73337292-chr6:73338860..73341706,8	K562	blood:
2	chr6:73334481..73336205-chr6:73704822..73706981,2	K562	blood:
3	chr6:73270540..73272055-chr6:73334737..73337247,2	K562	blood:
4	chr6:73334237..73336368-chr6:73349929..73351569,2	K562	blood:

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

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10943043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943045	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10943050	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11758568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189933	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12190091	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12190092	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12191039	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12191848	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12193274	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12194741	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12195259	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12196826	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12199549	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12200468	1.00[ASN][1000 genomes]
rs12201380	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12203288	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12204139	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12205254	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210850	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12212419	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12212562	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212818	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12214096	0.97[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12214894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12374631	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17692715	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17692874	1.00[ASN][1000 genomes]
rs17692898	1.00[ASN][1000 genomes]
rs17749408	1.00[ASN][1000 genomes]
rs17749420	1.00[ASN][1000 genomes]
rs1928153	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34821312	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55633371	1.00[ASN][1000 genomes]
rs55826353	1.00[ASN][1000 genomes]
rs56086224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56254477	1.00[ASN][1000 genomes]
rs56316829	1.00[ASN][1000 genomes]
rs62411975	1.00[ASN][1000 genomes]
rs62411984	1.00[ASN][1000 genomes]
rs62411986	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6453591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6453592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922524	1.00[ASN][1000 genomes]
rs6922932	1.00[ASN][1000 genomes]
rs7748594	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7768673	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73333400-73336000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr6:73333400-73336200	Enhancers	Primary B cells from peripheral blood	blood
3	chr6:73333800-73335600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr6:73333800-73335600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:73333800-73335800	Enhancers	Primary T cells from cord blood	blood
6	chr6:73333800-73350800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:73334000-73335400	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr6:73334200-73337200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr6:73334400-73335800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:73334400-73336000	Enhancers	Dnd41	blood
11	chr6:73334400-73336200	Enhancers	Primary B cells from cord blood	blood
12	chr6:73334400-73336800	Enhancers	K562	blood
13	chr6:73334400-73337200	Weak transcription	NHEK	skin
14	chr6:73334400-73346400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:73334400-73358800	Weak transcription	HSMM	muscle
16	chr6:73334600-73336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:73334600-73356200	Weak transcription	HMEC	breast
18	chr6:73334800-73335800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:73335000-73336000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:73335000-73336400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr6:73335000-73336800	Flanking Active TSS	GM12878-XiMat	blood
22	chr6:73335200-73339400	Weak transcription	Fetal Brain Female	brain

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