Variant report

Variant	rs6686412
Chromosome Location	chr1:47220466-47220467
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	POLR2A	chr1:47220429-47220608	HUVEC	blood vessel:	n/a	n/a
2	MYC	chr1:47220436-47220636	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr1:47220128-47220736	HUVEC	blood vessel:	n/a	n/a
4	SRF	chr1:47220397-47220521	HepG2	liver:	n/a	chr1:47220489-47220507
5	GATA3	chr1:47220347-47220676	T-47D	breast:	n/a	n/a
6	POLR2A	chr1:47220381-47220701	HUVEC	blood vessel:	n/a	n/a
7	GATA2	chr1:47220060-47220815	HUVEC	blood vessel:	n/a	n/a
8	SRF	chr1:47220257-47220704	MCF-7	breast:	n/a	chr1:47220489-47220507
9	SRF	chr1:47220235-47220721	ECC-1	luminal epithelium:	n/a	chr1:47220489-47220507
10	SRF	chr1:47220203-47220924	ECC-1	luminal epithelium:	n/a	chr1:47220489-47220507

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47216575..47218085-chr1:47218744..47221209,2	MCF-7	breast:
2	chr1:47213914..47217812-chr1:47218184..47221016,4	MCF-7	breast:

Variant related genes	Relation type
CYP4B1	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6662321	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72900771	0.83[EUR][1000 genomes]
rs72900773	0.93[AMR][1000 genomes];1.00[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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1013048	chr1:47132831-47377364	Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv534955	chr1:47132831-47377364	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47215200-47226000	Weak transcription	Lung	lung
2	chr1:47216600-47221600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:47218200-47222800	Enhancers	NHEK	skin
4	chr1:47218600-47220800	Weak transcription	Esophagus	oesophagus
5	chr1:47219400-47222000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:47219400-47224600	Enhancers	Placenta	Placenta
7	chr1:47219400-47225600	Enhancers	Fetal Intestine Small	intestine
8	chr1:47219400-47231600	Enhancers	Fetal Intestine Large	intestine
9	chr1:47219600-47222000	Enhancers	Duodenum Mucosa	Duodenum
10	chr1:47219600-47223200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:47219800-47221000	Enhancers	HUVEC	blood vessel
12	chr1:47219800-47223000	Enhancers	HMEC	breast
13	chr1:47219800-47224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:47220000-47220600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:47220000-47220800	Weak transcription	Stomach Mucosa	stomach
16	chr1:47220000-47221000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:47220000-47221200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr1:47220000-47222000	Enhancers	Fetal Kidney	kidney
19	chr1:47220200-47220800	Weak transcription	Pancreas	Pancrea
20	chr1:47220200-47222000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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