Variant report

Variant	rs73726305
Chromosome Location	chr6:12573446-12573447
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:12571834..12574405-chr6:12601309..12604125,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55859859	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56024875	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73722801	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73722802	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73726309	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7748722	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7756840	1.00[EUR][1000 genomes]
rs7767501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9688787	1.00[EUR][1000 genomes]
rs9689070	1.00[EUR][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	nsv470801	chr6:12559239-12666093	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv462638	chr6:12569231-12651249	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv600991	chr6:12569231-12651249	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12568800-12573600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:12568800-12573600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr6:12569800-12577400	Weak transcription	Esophagus	oesophagus
4	chr6:12571000-12575600	Weak transcription	Fetal Brain Male	brain
5	chr6:12571200-12573600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:12571600-12577200	Weak transcription	Fetal Kidney	kidney
7	chr6:12572600-12574000	Enhancers	Fetal Intestine Small	intestine
8	chr6:12572600-12575200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:12572800-12574000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:12573000-12574000	Enhancers	Fetal Intestine Large	intestine
11	chr6:12573000-12574200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:12573000-12574600	Enhancers	NHLF	lung
13	chr6:12573000-12575000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:12573200-12573600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:12573200-12573600	Flanking Active TSS	Osteobl	bone
16	chr6:12573200-12573800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr6:12573200-12573800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:12573200-12573800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:12573200-12573800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:12573200-12573800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:12573200-12573800	Enhancers	Aorta	Aorta
22	chr6:12573200-12573800	Enhancers	Colon Smooth Muscle	Colon
23	chr6:12573200-12573800	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr6:12573200-12573800	Enhancers	Small Intestine	intestine
25	chr6:12573200-12573800	Flanking Active TSS	NH-A	brain
26	chr6:12573200-12573800	Flanking Active TSS	NHEK	skin
27	chr6:12573200-12574000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:12573200-12574000	Enhancers	H9 Cell Line	embryonic stem cell
29	chr6:12573200-12574000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:12573200-12574000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:12573200-12574000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr6:12573200-12574000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:12573200-12574000	Enhancers	Placenta	Placenta
34	chr6:12573200-12574000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr6:12573200-12574000	Flanking Active TSS	A549	lung
36	chr6:12573200-12574000	Enhancers	Hela-S3	cervix
37	chr6:12573200-12574000	Flanking Active TSS	HSMMtube	muscle
38	chr6:12573200-12574200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:12573200-12575200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr6:12573200-12579200	Enhancers	NHDF-Ad	bronchial
41	chr6:12573400-12573600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:12573400-12573600	Enhancers	HSMM	muscle
43	chr6:12573400-12573600	Enhancers	HUVEC	blood vessel
44	chr6:12573400-12573800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:12573400-12573800	Enhancers	Fetal Heart	heart
46	chr6:12573400-12573800	Enhancers	Psoas Muscle	Psoas
47	chr6:12573400-12573800	Enhancers	Stomach Mucosa	stomach
48	chr6:12573400-12573800	Flanking Active TSS	HMEC	breast
49	chr6:12573400-12574000	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr6:12573400-12574000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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