Variant report

Variant	rs4706805
Chromosome Location	chr6:80580980-80580981
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	STAT3	chr6:80580951-80581109	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80579385..80581106-chr6:80583521..80585496,2	K562	blood:

Variant related genes	Relation type
ENSG00000233835	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10943668	0.91[ASN][1000 genomes]
rs1555416	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs346300	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs346305	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4706106	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62411143	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1021143	chr6:80400195-80598163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv3693359	chr6:80539454-80606537	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80576600-80582200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:80577400-80583400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:80577600-80583200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:80578000-80582800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:80579800-80581000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr6:80579800-80581200	Enhancers	Brain Germinal Matrix	brain
7	chr6:80579800-80582200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:80579800-80582600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:80579800-80582800	Weak transcription	Fetal Intestine Large	intestine
10	chr6:80579800-80583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:80579800-80588000	Weak transcription	Adipose Nuclei	Adipose
12	chr6:80579800-80588000	Weak transcription	Placenta	Placenta
13	chr6:80580000-80582400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr6:80580000-80582600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr6:80580000-80582600	Weak transcription	Fetal Heart	heart
16	chr6:80580000-80584400	Enhancers	Liver	Liver
17	chr6:80580200-80581600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:80580200-80582000	Weak transcription	HMEC	breast
19	chr6:80580200-80582000	Weak transcription	NHEK	skin
20	chr6:80580400-80582000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:80580800-80581000	Enhancers	Stomach Mucosa	stomach
22	chr6:80580800-80581200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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