Variant report

Variant	rs2754761
Chromosome Location	chr6:28760601-28760602
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:28756425..28760621-chr6:28761088..28764506,5	K562	blood:
2	chr6:28760359..28762539-chr6:28774291..28776179,2	K562	blood:

Variant related genes	Relation type
ENSG00000265764	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10498733	0.81[AMR][1000 genomes]
rs169682	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17280797	0.94[AMR][1000 genomes]
rs17280818	0.94[AMR][1000 genomes]
rs17281186	0.94[AMR][1000 genomes]
rs17346574	0.94[AMR][1000 genomes]
rs185982	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1936180	0.81[AMR][1000 genomes]
rs209189	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs209190	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs209192	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs209193	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs209199	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2754762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2754765	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2765220	0.85[ASN][1000 genomes]
rs2765222	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2765223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3131344	0.85[ASN][1000 genomes]
rs3132372	0.85[ASN][1000 genomes]
rs398795	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3999045	0.92[AFR][1000 genomes]
rs417919	0.85[ASN][1000 genomes]
rs453020	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs55659253	0.95[AFR][1000 genomes]
rs55764335	0.95[AFR][1000 genomes]
rs55891766	0.94[AMR][1000 genomes]
rs56030816	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56098960	0.95[AFR][1000 genomes]
rs56110474	0.87[AMR][1000 genomes]
rs56165011	0.95[AFR][1000 genomes]
rs56308612	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56374518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57491524	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57791058	0.95[AFR][1000 genomes]
rs57965355	0.95[AFR][1000 genomes]
rs58104924	0.81[AMR][1000 genomes]
rs58258185	0.95[AFR][1000 genomes]
rs59959723	0.94[AMR][1000 genomes]
rs60252686	0.95[AFR][1000 genomes]
rs61094745	0.94[AMR][1000 genomes]
rs6916286	0.90[AFR][1000 genomes]
rs6923795	0.95[AFR][1000 genomes]
rs6938988	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6939948	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7751451	0.95[AFR][1000 genomes]
rs7755641	0.81[AMR][1000 genomes]
rs7758798	0.90[AFR][1000 genomes]
rs7760656	0.94[AMR][1000 genomes]
rs7765829	0.94[AMR][1000 genomes]
rs7766599	0.94[AMR][1000 genomes]
rs9257190	0.85[ASN][1000 genomes]
rs9257226	0.85[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	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv883517	chr6:28751727-28802149	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv3384463	chr6:28759027-28776259	Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28758200-28761600	Weak transcription	HMEC	breast
2	chr6:28758400-28761600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:28758400-28761800	Weak transcription	HSMMtube	muscle
4	chr6:28758800-28761800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:28758800-28761800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:28759400-28761800	Weak transcription	A549	lung
7	chr6:28759600-28763600	Weak transcription	Hela-S3	cervix
8	chr6:28760200-28761400	Weak transcription	HepG2	liver
9	chr6:28760200-28761400	Weak transcription	K562	blood
10	chr6:28760400-28761400	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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