Variant report

Variant	rs28427222
Chromosome Location	chr3:133779067-133779068
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	CTCF	chr3:133779060-133779210	HMEC	breast:	n/a	n/a
2	RAD21	chr3:133778998-133779294	H1-hESC	embryonic stem cell:	n/a	chr3:133779219-133779233
3	FOXA2	chr3:133778835-133779208	HepG2	liver:	n/a	n/a
4	RAD21	chr3:133778990-133779350	ECC-1	luminal epithelium:	n/a	chr3:133779219-133779233
5	RAD21	chr3:133778937-133779285	SK-N-SH_RA	brain:	n/a	chr3:133779219-133779233
6	FOXA1	chr3:133778798-133779212	HepG2	liver:	n/a	n/a
7	HNF4G	chr3:133778845-133779252	HepG2	liver:	n/a	chr3:133779086-133779104 chr3:133779089-133779101 chr3:133779088-133779101 chr3:133779088-133779101 chr3:133779088-133779101 chr3:133779095-133779103
8	CTCF	chr3:133779011-133779337	T-47D	breast:	n/a	n/a
9	RAD21	chr3:133779028-133779282	SK-N-SH_RA	brain:	n/a	chr3:133779219-133779233
10	RAD21	chr3:133778953-133779435	MCF-7	breast:	n/a	chr3:133779219-133779233
11	CTCF	chr3:133779031-133779254	IMR90	lung:	n/a	n/a
12	CTCF	chr3:133778928-133779351	MCF-7	breast:	n/a	n/a
13	RAD21	chr3:133778902-133779331	MCF-7	breast:	n/a	chr3:133779219-133779233
14	RAD21	chr3:133779053-133779269	H1-hESC	embryonic stem cell:	n/a	chr3:133779219-133779233
15	RAD21	chr3:133779035-133779327	Hela-S3	cervix:	n/a	chr3:133779219-133779233
16	CTCF	chr3:133779060-133779210	AG09309	skin:	n/a	n/a
17	HNF4A	chr3:133778849-133779232	HepG2	liver:	n/a	chr3:133779086-133779104 chr3:133779089-133779101 chr3:133779157-133779172 chr3:133779088-133779101 chr3:133779088-133779101 chr3:133779088-133779101 chr3:133779095-133779103
18	RAD21	chr3:133778906-133779391	ECC-1	luminal epithelium:	n/a	chr3:133779219-133779233
19	RAD21	chr3:133778923-133779330	HepG2	liver:	n/a	chr3:133779219-133779233
20	CTCF	chr3:133779007-133779287	HepG2	liver:	n/a	n/a
21	SMC3	chr3:133779045-133779246	HepG2	liver:	n/a	n/a
22	SRF	chr3:133778920-133779117	HepG2	liver:	n/a	n/a
23	HNF4A	chr3:133778854-133779260	HepG2	liver:	n/a	chr3:133779086-133779104 chr3:133779089-133779101 chr3:133779157-133779172 chr3:133779088-133779101 chr3:133779088-133779101 chr3:133779088-133779101 chr3:133779095-133779103
24	RAD21	chr3:133778853-133779419	HepG2	liver:	n/a	chr3:133779219-133779233
25	CTCF	chr3:133778974-133779374	HepG2	liver:	n/a	n/a
26	ARID3A	chr3:133778895-133779138	HepG2	liver:	n/a	n/a
27	CTCF	chr3:133779060-133779210	AG04449	skin:	n/a	n/a
28	RAD21	chr3:133778969-133779302	HepG2	liver:	n/a	chr3:133779219-133779233

No.	Distal block	Cell Line	Cell type
1	chr3:133649017..133649819-chr3:133778718..133779541,3	MCF-7	breast:
2	chr3:133648848..133649835-chr3:133778675..133779592,6	MCF-7	breast:
3	chr3:133683310..133684064-chr3:133778989..133779611,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243832	TF binding region

rs_ID	r²[population]
rs6806611	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133771600-133779200	Weak transcription	Left Ventricle	heart
2	chr3:133773200-133780200	Enhancers	Placenta	Placenta
3	chr3:133773400-133780400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:133774400-133780200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:133775200-133780400	Enhancers	Fetal Intestine Small	intestine
6	chr3:133775400-133779600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:133775400-133779600	Enhancers	Lung	lung
8	chr3:133775400-133780200	Enhancers	Gastric	stomach
9	chr3:133775400-133780400	Enhancers	Fetal Intestine Large	intestine
10	chr3:133775400-133780600	Enhancers	Pancreas	Pancrea
11	chr3:133775600-133779600	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr3:133775600-133780600	Enhancers	Spleen	Spleen
13	chr3:133776200-133779800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:133776400-133780200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr3:133776600-133779600	Enhancers	Colonic Mucosa	Colon
16	chr3:133776600-133780400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr3:133776600-133780400	Enhancers	Stomach Mucosa	stomach
18	chr3:133776800-133785200	Weak transcription	Esophagus	oesophagus
19	chr3:133777000-133779200	Weak transcription	Hela-S3	cervix
20	chr3:133777000-133780200	Enhancers	Duodenum Mucosa	Duodenum
21	chr3:133777800-133779800	Enhancers	HSMMtube	muscle
22	chr3:133778000-133780200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:133778000-133780400	Enhancers	Right Atrium	heart
24	chr3:133778200-133779400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:133778200-133779600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr3:133778200-133779600	Enhancers	NH-A	brain
27	chr3:133778200-133779800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr3:133778200-133780000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:133778200-133780200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:133778200-133780200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:133778200-133780200	Enhancers	Osteobl	bone
32	chr3:133778200-133780400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr3:133778200-133780600	Enhancers	Fetal Muscle Leg	muscle
34	chr3:133778400-133779600	Enhancers	HSMM	muscle
35	chr3:133778400-133780200	Enhancers	Fetal Muscle Trunk	muscle
36	chr3:133778600-133780000	Enhancers	Liver	Liver
37	chr3:133778600-133780200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr3:133778600-133780600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:133778600-133780600	Enhancers	Ovary	ovary
40	chr3:133778800-133779200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
41	chr3:133778800-133779400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:133778800-133779600	Enhancers	Fetal Thymus	thymus
43	chr3:133778800-133779800	Enhancers	Fetal Stomach	stomach
44	chr3:133778800-133780400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:133778800-133780600	Enhancers	Right Ventricle	heart
46	chr3:133779000-133779200	Bivalent Enhancer	Fetal Kidney	kidney
47	chr3:133779000-133779400	Enhancers	HepG2	liver
48	chr3:133779000-133780000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:133779000-133780000	Enhancers	Fetal Lung	lung
50	chr3:133779000-133780400	Enhancers	Adipose Nuclei	Adipose

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