Variant report

Variant	rs578252202
Chromosome Location	chr3:42856411-42856412
allele	C/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	EP300	chr3:42856327-42856615	HepG2	liver:	n/a	chr3:42856503-42856513
2	FOSL2	chr3:42856341-42856706	HepG2	liver:	n/a	chr3:42856550-42856560 chr3:42856550-42856560 chr3:42856550-42856560
3	CBX3	chr3:42856382-42857028	K562	blood:	n/a	n/a
4	FOXA1	chr3:42856289-42856726	HepG2	liver:	n/a	n/a
5	KAP1	chr3:42856326-42857806	U2OS	brain:	n/a	n/a
6	FOXA1	chr3:42856350-42856770	HepG2	liver:	n/a	n/a
7	FOS	chr3:42856407-42856607	MCF10A-Er-Src	breast:	n/a	chr3:42856550-42856560 chr3:42856550-42856560 chr3:42856550-42856560
8	KAP1	chr3:42856175-42857851	HEK293	kidney:	n/a	n/a
9	TCF7L2	chr3:42856401-42857205	HEK293	kidney:	n/a	chr3:42856551-42856560
10	FOS	chr3:42856378-42856679	MCF10A-Er-Src	breast:	n/a	chr3:42856550-42856560 chr3:42856550-42856560 chr3:42856550-42856560
11	FOXA1	chr3:42856275-42856721	HepG2	liver:	n/a	n/a
12	ZNF263	chr3:42856276-42857439	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:42842006..42848504-chr3:42854036..42858354,7	K562	blood:
2	chr3:42846757..42848695-chr3:42854131..42856830,2	K562	blood:
3	chr3:42841845..42845236-chr3:42855285..42858253,3	K562	blood:
4	chr3:42853502..42856729-chr3:42859080..42861862,4	MCF-7	breast:

Variant related genes	Relation type
ACKR2	TF binding region
ENSG00000181061	Chromatin interaction
ENSG00000144648	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42853200-42856600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:42853200-42858600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr3:42853800-42861000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:42853800-42861200	Weak transcription	Fetal Intestine Large	intestine
5	chr3:42853800-42862200	Weak transcription	Fetal Intestine Small	intestine
6	chr3:42854000-42856600	Weak transcription	Fetal Kidney	kidney
7	chr3:42854200-42861200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:42854800-42858000	Enhancers	Fetal Heart	heart
9	chr3:42855000-42857600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr3:42855600-42857400	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr3:42855800-42857400	Enhancers	K562	blood
12	chr3:42855800-42857800	Enhancers	HepG2	liver
13	chr3:42856000-42856800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:42856000-42857200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:42856000-42857600	Enhancers	Stomach Mucosa	stomach
16	chr3:42856000-42857800	Enhancers	Hela-S3	cervix
17	chr3:42856200-42857000	Enhancers	Placenta	Placenta
18	chr3:42856200-42857200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr3:42856200-42857400	Enhancers	Stomach Smooth Muscle	stomach
20	chr3:42856200-42857400	Enhancers	HMEC	breast
21	chr3:42856200-42858000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:42856400-42856600	Enhancers	Right Atrium	heart
23	chr3:42856400-42856800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:42856400-42856800	Weak transcription	Colonic Mucosa	Colon
25	chr3:42856400-42856800	Bivalent Enhancer	Pancreatic Islets	Pancreatic Islet
26	chr3:42856400-42857000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:42856400-42857200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:42856400-42857400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:42856400-42857400	Enhancers	Right Ventricle	heart
30	chr3:42856400-42857400	Enhancers	NHEK	skin
31	chr3:42856400-42857800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:42856400-42857800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:42856400-42858200	Enhancers	Sigmoid Colon	Sigmoid Colon

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