Variant report

Variant	rs7752349
Chromosome Location	chr6:54727731-54727732
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	chr6:54718981..54722041-chr6:54724023..54729682,8	MCF-7	breast:
2	chr6:54583583..54586469-chr6:54727325..54729845,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10456176	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10948866	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10948867	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12192659	0.83[EUR][1000 genomes]
rs12208341	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12208348	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12211168	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1472679	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6918402	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6937970	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765721	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931766	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs971526	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs973205	0.92[AMR][1000 genomes];0.99[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54715400-54731200	Weak transcription	Hela-S3	cervix
2	chr6:54721200-54730000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:54725400-54731400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:54725600-54729800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:54725600-54737400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:54725600-54737600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:54725800-54730000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:54725800-54730000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:54725800-54730000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:54726400-54728400	Enhancers	Fetal Intestine Small	intestine
11	chr6:54726600-54728400	Enhancers	Fetal Intestine Large	intestine
12	chr6:54726600-54739600	Weak transcription	Small Intestine	intestine
13	chr6:54727000-54728600	Strong transcription	NHEK	skin
14	chr6:54727000-54730000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:54727000-54730600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:54727200-54729000	Weak transcription	Fetal Heart	heart
17	chr6:54727200-54729800	Weak transcription	Stomach Mucosa	stomach
18	chr6:54727200-54730000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:54727200-54731400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:54727200-54732800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:54727200-54748800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:54727400-54728200	Weak transcription	HMEC	breast
23	chr6:54727400-54729000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:54727400-54729200	Weak transcription	Gastric	stomach
25	chr6:54727400-54730000	Weak transcription	Fetal Kidney	kidney
26	chr6:54727400-54740400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:54727400-54743800	Weak transcription	Pancreas	Pancrea

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