Variant report

Variant	rs73364544
Chromosome Location	chr6:4822437-4822438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4815291..4819346-chr6:4820857..4822798,4	K562	blood:
2	chr6:4818061..4820249-chr6:4821057..4823900,2	MCF-7	breast:
3	chr6:4816460..4818196-chr6:4821244..4822798,2	K562	blood:
4	chr6:4820521..4822637-chr6:4825444..4827766,3	MCF-7	breast:
5	chr6:4813316..4814921-chr6:4820948..4822599,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1016878	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2875970	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57332003	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58825791	1.00[AMR][1000 genomes]
rs58938392	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58992102	1.00[AMR][1000 genomes]
rs59019088	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59362617	0.83[AMR][1000 genomes]
rs59469271	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59530044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60161880	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60469143	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60567289	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs60650385	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61323400	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61657419	0.83[AMR][1000 genomes]
rs73348304	1.00[AMR][1000 genomes]
rs73348324	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348337	1.00[AMR][1000 genomes]
rs73362531	1.00[AMR][1000 genomes]
rs73362537	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73362548	1.00[AMR][1000 genomes]
rs73362552	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364539	1.00[AMR][1000 genomes]
rs73364540	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364542	1.00[AMR][1000 genomes]
rs73364545	1.00[AMR][1000 genomes]
rs73364551	1.00[AMR][1000 genomes]
rs73364553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364577	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73364580	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs734783	1.00[AMR][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	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1015888	chr6:4787784-4883663	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv966675	chr6:4819733-4855009	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4806800-4829400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:4807200-4827800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:4812400-4829600	Weak transcription	Left Ventricle	heart
4	chr6:4812600-4826800	Weak transcription	HepG2	liver
5	chr6:4812800-4822800	Weak transcription	Adipose Nuclei	Adipose
6	chr6:4812800-4823000	Weak transcription	Primary T cells from cord blood	blood
7	chr6:4812800-4828800	Weak transcription	Hela-S3	cervix
8	chr6:4814200-4829600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:4815000-4826000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:4815000-4827400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:4815200-4823000	Weak transcription	Ovary	ovary
12	chr6:4815200-4824200	Weak transcription	Primary B cells from cord blood	blood
13	chr6:4815200-4829600	Weak transcription	Lung	lung
14	chr6:4817800-4827000	Weak transcription	K562	blood
15	chr6:4819200-4822800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:4820200-4828000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:4820400-4824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:4820400-4825400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:4820400-4844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:4820800-4823000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr6:4820800-4825400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:4821200-4853600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:4821400-4822600	Weak transcription	GM12878-XiMat	blood
24	chr6:4821400-4823000	Weak transcription	NHDF-Ad	bronchial
25	chr6:4821600-4823000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:4822400-4822600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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