Variant report

Variant	rs2059772
Chromosome Location	chr3:42860871-42860872
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	FOXA1	chr3:42860662-42861202	HepG2	liver:	n/a	n/a
2	MYBL2	chr3:42860722-42861324	HepG2	liver:	n/a	n/a
3	HEY1	chr3:42860822-42861203	HepG2	liver:	n/a	n/a
4	STAT3	chr3:42860846-42861107	MCF10A-Er-Src	breast:	n/a	chr3:42861013-42861024
5	CTCF	chr3:42860868-42861277	K562	blood:	n/a	chr3:42861075-42861084
6	ARID3A	chr3:42860674-42861264	HepG2	liver:	n/a	n/a
7	CTCF	chr3:42860869-42861242	K562	blood:	n/a	chr3:42861075-42861084
8	FOXA2	chr3:42860773-42860935	HepG2	liver:	n/a	n/a
9	STAT3	chr3:42860839-42861121	MCF10A-Er-Src	breast:	n/a	chr3:42861013-42861024
10	FOXA1	chr3:42860588-42861087	HepG2	liver:	n/a	n/a
11	HEY1	chr3:42860803-42861202	HepG2	liver:	n/a	n/a
12	FOXA1	chr3:42860755-42861248	HepG2	liver:	n/a	n/a
13	RXRA	chr3:42860843-42861107	HepG2	liver:	n/a	n/a
14	FOXA1	chr3:42860746-42861076	HepG2	liver:	n/a	n/a
15	EP300	chr3:42860779-42861969	SK-N-SH	brain:	n/a	chr3:42861816-42861830 chr3:42861578-42861592 chr3:42861710-42861724
16	STAT3	chr3:42860829-42861917	MCF10A-Er-Src	breast:	n/a	chr3:42860829-42860837 chr3:42861013-42861024

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42843227..42846088-chr3:42858547..42861083,3	K562	blood:

Variant related genes	Relation type
ACKR2	TF binding region
ENSG00000181061	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1975927	1.00[AMR][1000 genomes]
rs339670	1.00[AMR][1000 genomes]
rs339674	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs339677	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61747186	1.00[AMR][1000 genomes]
rs6769061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7629781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9863144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9865715	0.83[AFR][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	esv1847016	chr3:42855765-42880490	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42853800-42861000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:42853800-42861200	Weak transcription	Fetal Intestine Large	intestine
3	chr3:42853800-42862200	Weak transcription	Fetal Intestine Small	intestine
4	chr3:42854200-42861200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:42856800-42861000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:42857000-42861000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:42857000-42869800	Weak transcription	Colonic Mucosa	Colon
8	chr3:42857200-42861000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:42857400-42861000	Weak transcription	Liver	Liver
10	chr3:42857400-42861200	Weak transcription	HMEC	breast
11	chr3:42857400-42861200	Weak transcription	NHEK	skin
12	chr3:42857600-42861000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr3:42857600-42861000	Weak transcription	Stomach Mucosa	stomach
14	chr3:42857600-42861400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:42857800-42861000	Weak transcription	Hela-S3	cervix
16	chr3:42858600-42861200	Strong transcription	Placenta	Placenta
17	chr3:42859600-42863200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr3:42859600-42863200	Enhancers	HepG2	liver
19	chr3:42860400-42861400	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr3:42860800-42861400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:42860800-42861400	Weak transcription	Fetal Kidney	kidney
22	chr3:42860800-42861600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr3:42860800-42861800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:42860800-42862400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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