Variant report

Variant	rs555320493
Chromosome Location	chr3:42856902-42856903
allele	-/C
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	chr3:42856755-42857012	K562	blood:	n/a	n/a
2	TBL1XR1	chr3:42856727-42857078	K562	blood:	n/a	n/a
3	GATA2	chr3:42856668-42857059	K562	blood:	n/a	n/a
4	NFIC	chr3:42856662-42857163	ECC-1	luminal epithelium:	n/a	chr3:42856889-42856905 chr3:42856889-42856906
5	CTCF	chr3:42856677-42856974	K562	blood:	n/a	n/a
6	JUND	chr3:42856462-42857072	K562	blood:	n/a	chr3:42856550-42856560 chr3:42856550-42856560 chr3:42856550-42856560
7	MAFK	chr3:42856463-42857096	K562	blood:	n/a	chr3:42856919-42856935 chr3:42856983-42856993
8	CBX3	chr3:42856382-42857028	K562	blood:	n/a	n/a
9	CUX1	chr3:42856614-42857102	K562	blood:	n/a	n/a
10	POLR2A	chr3:42856746-42857029	K562	blood:	n/a	n/a
11	ARID3A	chr3:42856695-42857084	K562	blood:	n/a	n/a
12	KAP1	chr3:42856326-42857806	U2OS	brain:	n/a	n/a
13	EBF1	chr3:42856728-42857597	GM12878	blood:	n/a	chr3:42856876-42856889 chr3:42856877-42856887 chr3:42857360-42857371 chr3:42856878-42856887 chr3:42856878-42856887 chr3:42857290-42857301 chr3:42857292-42857302
14	POLR2A	chr3:42856716-42857014	K562	blood:	n/a	n/a
15	GATA1	chr3:42856526-42857181	PBDE	blood:	n/a	n/a
16	KAP1	chr3:42856175-42857851	HEK293	kidney:	n/a	n/a
17	TAL1	chr3:42856646-42857057	K562	blood:	n/a	n/a
18	MAZ	chr3:42856715-42856961	K562	blood:	n/a	n/a
19	TCF7L2	chr3:42856401-42857205	HEK293	kidney:	n/a	chr3:42856551-42856560
20	EP300	chr3:42856679-42857101	K562	blood:	n/a	chr3:42856695-42856708
21	ZC3H11A	chr3:42856620-42856979	K562	blood:	n/a	n/a
22	ZNF263	chr3:42856276-42857439	HEK293-T-REx	kidney:	n/a	n/a
23	STAT1	chr3:42856460-42857440	Hela-S3	cervix:	n/a	n/a
24	TEAD4	chr3:42856619-42857058	K562	blood:	n/a	n/a
25	RCOR1	chr3:42856665-42857018	K562	blood:	n/a	n/a
26	TEAD4	chr3:42856653-42857008	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42842006..42848504-chr3:42854036..42858354,7	K562	blood:
2	chr3:42841845..42845236-chr3:42855285..42858253,3	K562	blood:

Variant related genes	Relation type
ACKR2	TF binding region
ENSG00000144648	Chromatin interaction
ENSG00000181061	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	chr3:42853200-42858600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr3:42853800-42861000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:42853800-42861200	Weak transcription	Fetal Intestine Large	intestine
4	chr3:42853800-42862200	Weak transcription	Fetal Intestine Small	intestine
5	chr3:42854200-42861200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:42854800-42858000	Enhancers	Fetal Heart	heart
7	chr3:42855000-42857600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr3:42855600-42857400	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr3:42855800-42857400	Enhancers	K562	blood
10	chr3:42855800-42857800	Enhancers	HepG2	liver
11	chr3:42856000-42857200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr3:42856000-42857600	Enhancers	Stomach Mucosa	stomach
13	chr3:42856000-42857800	Enhancers	Hela-S3	cervix
14	chr3:42856200-42857000	Enhancers	Placenta	Placenta
15	chr3:42856200-42857200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:42856200-42857400	Enhancers	Stomach Smooth Muscle	stomach
17	chr3:42856200-42857400	Enhancers	HMEC	breast
18	chr3:42856200-42858000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:42856400-42857000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:42856400-42857200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:42856400-42857400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:42856400-42857400	Enhancers	Right Ventricle	heart
23	chr3:42856400-42857400	Enhancers	NHEK	skin
24	chr3:42856400-42857800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:42856400-42857800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:42856400-42858200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr3:42856600-42857000	Enhancers	Adipose Nuclei	Adipose
28	chr3:42856600-42857200	Enhancers	Fetal Kidney	kidney
29	chr3:42856600-42857400	Enhancers	Liver	Liver
30	chr3:42856600-42857600	Enhancers	Duodenum Mucosa	Duodenum
31	chr3:42856800-42857000	Enhancers	Colonic Mucosa	Colon
32	chr3:42856800-42857800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr3:42856800-42861000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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