Variant report

Variant	rs56315233
Chromosome Location	chr17:46571866-46571867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46569342..46572136-chr17:46582152..46585021,2	MCF-7	breast:
2	chr17:46569189..46572269-chr17:46574424..46577287,4	MCF-7	breast:
3	chr17:46570087..46572342-chr20:55574944..55576592,2	MCF-7	breast:
4	chr17:46570235..46572365-chr20:55509370..55511788,2	MCF-7	breast:
5	chr17:46569196..46571892-chr17:46596978..46599661,2	K562	blood:

Variant related genes	Relation type
ENSG00000251772	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1022086	0.87[ASN][1000 genomes]
rs12951643	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553748	0.82[ASN][1000 genomes]
rs1553755	0.82[ASN][1000 genomes]
rs1811330	0.88[EUR][1000 genomes]
rs36087615	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55762900	0.92[EUR][1000 genomes]
rs56238990	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60944926	0.84[ASN][1000 genomes]
rs6504299	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs953732	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9747796	0.86[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46570400-46572400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr17:46570400-46572600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr17:46570400-46576400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:46570600-46572000	Enhancers	A549	lung
5	chr17:46570600-46572200	Enhancers	NHEK	skin
6	chr17:46570600-46572400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:46570600-46572400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:46570600-46572400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr17:46570600-46572400	Enhancers	HSMM	muscle
10	chr17:46570600-46572400	Enhancers	HSMMtube	muscle
11	chr17:46570600-46572400	Enhancers	NH-A	brain
12	chr17:46570600-46572400	Enhancers	NHLF	lung
13	chr17:46570600-46574200	Weak transcription	HMEC	breast
14	chr17:46570600-46574200	Weak transcription	HUVEC	blood vessel
15	chr17:46570600-46574800	Enhancers	K562	blood
16	chr17:46570800-46572400	Enhancers	Fetal Stomach	stomach
17	chr17:46570800-46574200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr17:46570800-46575000	Weak transcription	Adipose Nuclei	Adipose
19	chr17:46571000-46574200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr17:46571000-46574400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:46571000-46577800	Weak transcription	Colon Smooth Muscle	Colon
22	chr17:46571200-46575400	Weak transcription	Placenta	Placenta
23	chr17:46571400-46572000	Enhancers	Fetal Kidney	kidney
24	chr17:46571400-46572200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:46571400-46572200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:46571400-46572200	Enhancers	NHDF-Ad	bronchial
27	chr17:46571600-46572000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr17:46571600-46572400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr17:46571600-46572400	Enhancers	Osteobl	bone
30	chr17:46571800-46572000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
31	chr17:46571800-46572000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr17:46571800-46572400	Bivalent Enhancer	Fetal Lung	lung
33	chr17:46571800-46574000	Weak transcription	Spleen	Spleen
34	chr17:46571800-46574200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:46571800-46574200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:46571800-46575800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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