Variant report

Variant	rs9343009
Chromosome Location	chr6:73828281-73828282
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	CEBPB	chr6:73828267-73828584	IMR90	lung:	n/a	chr6:73828399-73828410 chr6:73828401-73828412
2	CEBPB	chr6:73828256-73828570	HepG2	liver:	n/a	chr6:73828399-73828410 chr6:73828401-73828412

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:73821847..73823593-chr6:73826578..73828545,2	K562	blood:

Variant related genes	Relation type
KCNQ5	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1113015	0.95[CHB][hapmap];0.92[JPT][hapmap];0.91[MKK][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1113016	0.84[AMR][1000 genomes]
rs11963032	0.87[EUR][1000 genomes]
rs11965567	0.84[AMR][1000 genomes]
rs1418414	0.84[AMR][1000 genomes]
rs1935530	0.83[EUR][1000 genomes]
rs2796044	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4142649	0.85[TSI][hapmap]
rs4235873	0.95[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4706528	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4708028	0.88[AMR][1000 genomes]
rs4708033	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6453633	0.86[JPT][hapmap];0.80[MEX][hapmap];0.87[MKK][hapmap];0.81[AMR][1000 genomes]
rs6904597	0.84[AMR][1000 genomes]
rs6911409	0.95[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6911751	0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6927120	0.84[AMR][1000 genomes]
rs6927134	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6927759	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6927779	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6933361	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6933440	0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.89[LWK][hapmap];0.85[MEX][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap]
rs73452858	0.81[AMR][1000 genomes]
rs73452859	0.84[AMR][1000 genomes]
rs73452861	0.84[AMR][1000 genomes]
rs7739692	0.86[JPT][hapmap];0.81[AMR][1000 genomes]
rs7743399	0.84[AMR][1000 genomes]
rs7760644	0.94[CHB][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7764571	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7772526	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.97[LWK][hapmap];0.85[MEX][hapmap];0.97[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7776435	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9293920	0.94[ASW][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.91[LWK][hapmap];0.85[MEX][hapmap];0.94[MKK][hapmap];0.92[TSI][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9341404	0.95[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9341408	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9341409	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9343006	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9350488	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9350489	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9360636	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9360640	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9442887	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9446844	0.95[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9446845	0.83[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9446851	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 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	chr6:73791000-73830600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:73813000-73830200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:73814600-73830200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr6:73814800-73831200	Weak transcription	HSMM	muscle
5	chr6:73815200-73839400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:73816600-73831000	Weak transcription	HSMMtube	muscle
7	chr6:73818000-73846400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:73819800-73830200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:73819800-73830600	Weak transcription	HMEC	breast
10	chr6:73820800-73830600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:73821000-73849800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:73821400-73830200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:73821400-73839600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr6:73821600-73831200	Weak transcription	Primary T cells from cord blood	blood
15	chr6:73821800-73839400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:73822000-73839400	Weak transcription	Fetal Heart	heart
17	chr6:73822200-73831000	Weak transcription	GM12878-XiMat	blood
18	chr6:73823200-73830600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:73823400-73830200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:73824000-73830400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr6:73825200-73830200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr6:73827600-73830000	Weak transcription	Primary B cells from cord blood	blood

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