Variant report

Variant	rs56227610
Chromosome Location	chr3:43680933-43680934
allele	G/T
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	ARID3A	chr3:43680033-43680965	K562	blood:	n/a	n/a
2	FOS	chr3:43680693-43680960	MCF10A-Er-Src	breast:	n/a	chr3:43680810-43680817 chr3:43680810-43680818 chr3:43680809-43680819 chr3:43680808-43680820 chr3:43680810-43680818
3	MAFK	chr3:43680063-43680973	Hela-S3	cervix:	n/a	chr3:43680810-43680820
4	MAX	chr3:43680055-43680975	K562	blood:	n/a	chr3:43680810-43680819
5	FOS	chr3:43680637-43680950	MCF10A-Er-Src	breast:	n/a	chr3:43680810-43680817 chr3:43680810-43680818 chr3:43680809-43680819 chr3:43680808-43680820 chr3:43680810-43680818
6	IRF1	chr3:43679966-43680961	K562	blood:	n/a	chr3:43680029-43680039
7	JUN	chr3:43680150-43680962	Hela-S3	cervix:	n/a	chr3:43680810-43680817 chr3:43680810-43680818 chr3:43680809-43680819 chr3:43680808-43680820 chr3:43680810-43680818
8	FOS	chr3:43680666-43680976	MCF10A-Er-Src	breast:	n/a	chr3:43680810-43680817 chr3:43680810-43680818 chr3:43680809-43680819 chr3:43680808-43680820 chr3:43680810-43680818
9	ATF1	chr3:43680075-43680959	K562	blood:	n/a	n/a
10	POLR2A	chr3:43680066-43681040	K562	blood:	n/a	n/a
11	JUND	chr3:43680042-43680983	K562	blood:	n/a	chr3:43680810-43680817 chr3:43680810-43680818 chr3:43680809-43680819 chr3:43680808-43680820 chr3:43680810-43680818
12	MYC	chr3:43680030-43680971	K562	blood:	n/a	chr3:43680810-43680819
13	MAFF	chr3:43680071-43680993	K562	blood:	n/a	chr3:43680801-43680819
14	FOS	chr3:43680662-43680975	MCF10A-Er-Src	breast:	n/a	chr3:43680810-43680817 chr3:43680810-43680818 chr3:43680809-43680819 chr3:43680808-43680820 chr3:43680810-43680818
15	MAX	chr3:43680145-43680942	Hela-S3	cervix:	n/a	chr3:43680810-43680819
16	FOSL1	chr3:43679982-43680960	K562	blood:	n/a	chr3:43680810-43680817 chr3:43680810-43680818 chr3:43680809-43680819 chr3:43680808-43680820 chr3:43680810-43680818
17	RCOR1	chr3:43679944-43681006	K562	blood:	n/a	n/a
18	BACH1	chr3:43679826-43680962	K562	blood:	n/a	n/a
19	GTF2F1	chr3:43680069-43680953	Hela-S3	cervix:	n/a	n/a
20	MAFF	chr3:43680633-43680956	HepG2	liver:	n/a	chr3:43680801-43680819
21	RAD21	chr3:43680033-43680976	Hela-S3	cervix:	n/a	n/a
22	TEAD4	chr3:43680047-43680941	ECC-1	luminal epithelium:	n/a	n/a
23	MAFK	chr3:43680033-43680991	K562	blood:	n/a	chr3:43680810-43680820
24	MYC	chr3:43680019-43680975	K562	blood:	n/a	chr3:43680810-43680819
25	EP300	chr3:43679991-43680941	K562	blood:	n/a	chr3:43680810-43680819
26	RCOR1	chr3:43680160-43680946	Hela-S3	cervix:	n/a	n/a
27	TEAD4	chr3:43679923-43681040	K562	blood:	n/a	n/a
28	CBX3	chr3:43679920-43680944	K562	blood:	n/a	n/a
29	NFE2	chr3:43680650-43680993	K562	blood:	n/a	chr3:43680809-43680824 chr3:43680810-43680819
30	NR2F2	chr3:43679927-43680945	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:43678798..43681380-chr3:43730881..43734073,3	MCF-7	breast:
2	chr3:43677251..43683206-chr3:43726914..43734554,14	K562	blood:
3	chr3:43679862..43683556-chr3:43731256..43733362,3	MCF-7	breast:

Variant related genes	Relation type
ANO10	TF binding region
ENSG00000011198	Chromatin interaction
ENSG00000160746	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55857234	1.00[AMR][1000 genomes]
rs58279301	1.00[AMR][1000 genomes]
rs6793449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834673	chr3:43622985-43799876	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43664200-43688400	Weak transcription	Aorta	Aorta
2	chr3:43674400-43682800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:43679200-43681000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:43679200-43681000	Enhancers	HSMM	muscle
5	chr3:43680000-43681000	Enhancers	Primary hematopoietic stem cells	blood
6	chr3:43680000-43681000	Enhancers	NHLF	lung
7	chr3:43680000-43682800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr3:43680000-43684200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:43680200-43681000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:43680200-43681000	Flanking Active TSS	Hela-S3	cervix
11	chr3:43680400-43681000	Enhancers	Stomach Mucosa	stomach
12	chr3:43680600-43681000	Enhancers	Primary B cells from cord blood	blood
13	chr3:43680600-43681000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr3:43680800-43681000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:43680800-43681000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:43680800-43681000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr3:43680800-43681000	Enhancers	A549	lung
18	chr3:43680800-43681000	Enhancers	NHEK	skin
19	chr3:43680800-43682200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:43680800-43682600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:43680800-43682800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr3:43680800-43682800	Weak transcription	HSMMtube	muscle
23	chr3:43680800-43682800	Weak transcription	NHDF-Ad	bronchial
24	chr3:43680800-43682800	Weak transcription	Osteobl	bone
25	chr3:43680800-43683400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:43680800-43683400	Weak transcription	HepG2	liver
27	chr3:43680800-43683600	Enhancers	K562	blood
28	chr3:43680800-43686000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:43680800-43687800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:43680800-43688000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:43680800-43688800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:43680800-43691200	Weak transcription	Colonic Mucosa	Colon
33	chr3:43680800-43691200	Weak transcription	Placenta	Placenta

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