Variant report

Variant	rs2560794
Chromosome Location	chr6:13505410-13505411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13486342..13488490-chr6:13504374..13507205,2	MCF-7	breast:
2	chr6:13486350..13490681-chr6:13504668..13507736,4	K562	blood:

Variant related genes	Relation type
ENSG00000237786	Chromatin interaction
ENSG00000145990	Chromatin interaction
ENSG00000187461	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs2494775	0.87[ASN][1000 genomes]
rs2560767	0.83[ASN][1000 genomes]
rs2560774	0.88[ASN][1000 genomes]
rs2560775	0.88[ASN][1000 genomes]
rs2560776	0.88[ASN][1000 genomes]
rs2560777	0.95[ASN][1000 genomes]
rs2560778	0.95[ASN][1000 genomes]
rs2560780	0.95[ASN][1000 genomes]
rs2560781	0.95[ASN][1000 genomes]
rs2560784	0.96[ASN][1000 genomes]
rs2560786	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2560787	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2560789	0.97[ASN][1000 genomes]
rs2560790	0.97[ASN][1000 genomes]
rs2560791	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2560793	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2560796	0.97[ASN][1000 genomes]
rs2560797	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2560798	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2560799	0.94[ASN][1000 genomes]
rs2560800	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2560802	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2560803	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2560804	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2560805	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2560806	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2841526	0.88[ASN][1000 genomes]
rs2841527	0.88[ASN][1000 genomes]
rs2841528	0.88[ASN][1000 genomes]
rs2841530	0.94[ASN][1000 genomes]
rs2841531	0.90[ASN][1000 genomes]
rs2841532	0.96[ASN][1000 genomes]
rs2841533	0.97[ASN][1000 genomes]
rs2841535	0.97[ASN][1000 genomes]
rs2841536	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2841537	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2841539	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2841540	0.97[ASN][1000 genomes]
rs2841542	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2841543	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2841544	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2841545	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4340988	0.95[ASN][1000 genomes]
rs4512205	0.95[ASN][1000 genomes]
rs4715370	0.97[ASN][1000 genomes]
rs4715371	0.97[ASN][1000 genomes]
rs4715372	0.97[ASN][1000 genomes]
rs4715373	0.95[ASN][1000 genomes]
rs4715374	0.95[ASN][1000 genomes]
rs4715376	0.90[ASN][1000 genomes]
rs4715379	0.89[ASN][1000 genomes]
rs4715380	0.89[ASN][1000 genomes]
rs59610068	0.97[ASN][1000 genomes]
rs60499941	0.97[ASN][1000 genomes]
rs6458898	0.91[ASN][1000 genomes]
rs6923024	0.85[ASN][1000 genomes]
rs6939496	0.85[ASN][1000 genomes]
rs9370167	0.97[ASN][1000 genomes]
rs9370168	0.97[ASN][1000 genomes]
rs9370171	0.97[ASN][1000 genomes]
rs9370172	0.96[ASN][1000 genomes]
rs9382156	0.95[ASN][1000 genomes]
rs9382170	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9382172	0.97[ASN][1000 genomes]
rs9382174	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1033620	chr6:13419730-13571788	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv462640	chr6:13426539-13519434	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv600994	chr6:13426539-13519434	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv470802	chr6:13441424-13519371	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13500200-13512600	Weak transcription	Small Intestine	intestine
2	chr6:13504400-13505600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:13504400-13505800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:13504400-13505800	Enhancers	HUVEC	blood vessel
5	chr6:13504800-13505600	Enhancers	Primary hematopoietic stem cells	blood
6	chr6:13505000-13506200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:13505200-13506000	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr6:13505200-13506800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:13505400-13505600	Enhancers	Right Atrium	heart
10	chr6:13505400-13506000	Enhancers	Adipose Nuclei	Adipose
11	chr6:13505400-13506000	Flanking Active TSS	HepG2	liver
12	chr6:13505400-13506200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr6:13505400-13506200	Enhancers	Left Ventricle	heart

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