Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:54743634..54746094-chr6:54790131..54791842,2	MCF-7	breast:
2	chr6:54704497..54716767-chr6:54728797..54750947,71	MCF-7	breast:
3	chr6:54582713..54585752-chr6:54741876..54745709,4	MCF-7	breast:
4	chr6:54741459..54745147-chr6:54761074..54763520,3	MCF-7	breast:
5	chr6:54736804..54741584-chr6:54742863..54746409,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168143	Chromatin interaction
ENSG00000224984	Chromatin interaction

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1155748	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1503138	0.97[EUR][1000 genomes]
rs1503155	0.92[EUR][1000 genomes]
rs17678648	0.87[EUR][1000 genomes]
rs2221335	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs239786	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs239795	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs239800	0.87[EUR][1000 genomes]
rs239804	0.87[EUR][1000 genomes]
rs239809	0.87[EUR][1000 genomes]
rs239811	0.87[EUR][1000 genomes]
rs239814	0.82[EUR][1000 genomes]
rs239817	0.82[EUR][1000 genomes]
rs239820	0.87[EUR][1000 genomes]
rs239821	0.87[EUR][1000 genomes]
rs239822	0.87[EUR][1000 genomes]
rs2746441	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2746442	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3125262	0.80[EUR][1000 genomes]
rs3135456	0.80[EUR][1000 genomes]
rs376894	0.87[EUR][1000 genomes]
rs4143677	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4715488	0.97[EUR][1000 genomes]
rs6459030	0.97[EUR][1000 genomes]
rs7749067	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7761633	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs869859	0.80[EUR][1000 genomes]
rs905460	0.80[EUR][1000 genomes]
rs9357820	0.84[EUR][1000 genomes]
rs9367595	0.92[EUR][1000 genomes]
rs9396004	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs973206	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs980820	0.80[EUR][1000 genomes]
rs995852	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54727200-54748800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:54737200-54746400	Enhancers	Hela-S3	cervix
3	chr6:54737600-54755800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:54739800-54763000	Weak transcription	Small Intestine	intestine
5	chr6:54741800-54744800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:54741800-54744800	Enhancers	Fetal Intestine Large	intestine
7	chr6:54742400-54744800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr6:54742600-54745200	Enhancers	HMEC	breast
9	chr6:54743000-54752000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:54744200-54744800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:54744200-54744800	Enhancers	NHEK	skin
12	chr6:54744200-54745000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:54744200-54757600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:54744400-54744800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:54744400-54761000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:54744600-54745800	Weak transcription	Stomach Mucosa	stomach
17	chr6:54744600-54748600	Weak transcription	Fetal Intestine Small	intestine

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