Variant report

Variant	rs72829813
Chromosome Location	chr17:46573399-46573400
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46572626..46574764-chr17:46662731..46664611,2	MCF-7	breast:
2	chr17:46553956..46556675-chr17:46573169..46576403,3	MCF-7	breast:
3	chr17:46572156..46575042-chr17:46583182..46586038,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206805	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12452773	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17625073	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72829816	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829819	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829823	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829828	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829842	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829845	0.81[AMR][1000 genomes];0.90[EUR][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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	esv1002528	chr17:46566180-46575960	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46570400-46576400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr17:46570600-46574200	Weak transcription	HMEC	breast
3	chr17:46570600-46574200	Weak transcription	HUVEC	blood vessel
4	chr17:46570600-46574800	Enhancers	K562	blood
5	chr17:46570800-46574200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:46570800-46575000	Weak transcription	Adipose Nuclei	Adipose
7	chr17:46571000-46574200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:46571000-46574400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:46571000-46577800	Weak transcription	Colon Smooth Muscle	Colon
10	chr17:46571200-46575400	Weak transcription	Placenta	Placenta
11	chr17:46571800-46574000	Weak transcription	Spleen	Spleen
12	chr17:46571800-46574200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:46571800-46574200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:46571800-46575800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr17:46572000-46573400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr17:46572000-46574200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:46572000-46574200	Weak transcription	Fetal Kidney	kidney
18	chr17:46572200-46574200	Weak transcription	NHEK	skin
19	chr17:46572400-46574000	Weak transcription	Fetal Stomach	stomach
20	chr17:46572400-46574200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:46572400-46574200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:46572400-46574200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr17:46572400-46574200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr17:46572400-46574200	Weak transcription	HSMM	muscle
25	chr17:46572400-46574200	Weak transcription	HSMMtube	muscle
26	chr17:46572400-46574200	Weak transcription	NH-A	brain
27	chr17:46572400-46574200	Weak transcription	NHLF	lung
28	chr17:46572600-46575600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:46573200-46574600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:46573200-46577200	Weak transcription	A549	lung

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