Variant report

Variant	rs73580445
Chromosome Location	chr6:142708664-142708665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:142708524-142708827	HepG2	liver:	n/a	chr6:142708679-142708690
2	CEBPB	chr6:142708471-142708968	A549	lung:	n/a	chr6:142708679-142708690
3	CEBPB	chr6:142708533-142708803	A549	lung:	n/a	chr6:142708679-142708690
4	EP300	chr6:142708438-142708923	A549	lung:	n/a	chr6:142708680-142708694
5	POLR2A	chr6:142708548-142708687	MCF10A-Er-Src	breast:	n/a	n/a
6	TCF7L2	chr6:142708476-142708819	PANC-1	pancreas:	n/a	chr6:142708695-142708704 chr6:142708692-142708708

No.	Distal block	Cell Line	Cell type
1	chr6:142596671..142598809-chr6:142708125..142710238,2	MCF-7	breast:
2	chr6:142621714..142625122-chr6:142706932..142708951,3	MCF-7	breast:
3	chr6:142616281..142618889-chr6:142707145..142709982,2	MCF-7	breast:
4	chr6:142695789..142698729-chr6:142704783..142708780,4	MCF-7	breast:

Variant related genes	Relation type
GPR126	TF binding region
ENSG00000112414	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11968056	0.94[ASN][1000 genomes]
rs12110403	1.00[EUR][1000 genomes]
rs12111442	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35699755	0.97[ASN][1000 genomes]
rs58618846	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61179412	1.00[ASN][1000 genomes]
rs723990	1.00[EUR][1000 genomes]
rs73580447	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9484621	0.94[ASN][1000 genomes]
rs9942441	1.00[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	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830825	chr6:142585242-142752575	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr6:142698600-142733200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:142699600-142709200	Weak transcription	Fetal Intestine Large	intestine
3	chr6:142699800-142709000	Weak transcription	Fetal Intestine Small	intestine
4	chr6:142699800-142718600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:142699800-142719200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:142700000-142714200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:142700400-142709000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:142700400-142709000	Weak transcription	Fetal Lung	lung
9	chr6:142705800-142713800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:142706200-142719600	Weak transcription	NHEK	skin
11	chr6:142706400-142709000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:142706400-142709200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:142706400-142717200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:142706600-142709600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:142706600-142709600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr6:142706600-142710200	Enhancers	A549	lung
17	chr6:142706800-142709800	Weak transcription	HSMM	muscle
18	chr6:142707000-142709200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:142707400-142708800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:142707800-142709800	Genic enhancers	HepG2	liver
21	chr6:142708000-142710000	Enhancers	Liver	Liver
22	chr6:142708000-142734800	Weak transcription	Esophagus	oesophagus
23	chr6:142708200-142709200	Weak transcription	HUVEC	blood vessel
24	chr6:142708200-142710000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:142708200-142710000	Enhancers	NHLF	lung
26	chr6:142708200-142718600	Weak transcription	Placenta	Placenta
27	chr6:142708200-142719400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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