Variant report

Variant	rs4252812
Chromosome Location	chr4:77990358-77990359
allele	C/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	POLR2A	chr4:77990153-77990531	GM12878	blood:	n/a	n/a
2	POLR2A	chr4:77990193-77990446	K562	blood:	n/a	n/a
3	POLR2A	chr4:77990218-77990459	K562	blood:	n/a	n/a
4	POLR2A	chr4:77990320-77990503	HepG2	liver:	n/a	n/a
5	STAT3	chr4:77990241-77990393	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr4:77989960-77990513	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77990028..77993764-chr4:78075523..78079843,5	K562	blood:
2	chr4:77864554..77866715-chr4:77988716..77991031,2	K562	blood:

Variant related genes	Relation type
CCNI	TF binding region
ENSG00000138764	Chromatin interaction

rs_ID	r²[population]
rs17002342	1.00[AMR][1000 genomes]
rs17002354	1.00[AMR][1000 genomes]
rs4252749	1.00[AMR][1000 genomes]
rs4252775	1.00[AMR][1000 genomes]
rs4252791	1.00[AMR][1000 genomes]
rs4252859	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252934	1.00[AMR][1000 genomes]
rs4252939	1.00[AMR][1000 genomes]
rs4252944	1.00[AMR][1000 genomes]
rs4252945	1.00[AMR][1000 genomes]
rs4476626	1.00[AMR][1000 genomes]
rs57303670	1.00[AMR][1000 genomes]
rs60458841	1.00[AMR][1000 genomes]
rs73826493	1.00[AMR][1000 genomes]
rs73826720	1.00[AMR][1000 genomes]
rs73826723	1.00[AMR][1000 genomes]
rs73829817	1.00[AMR][1000 genomes]
rs7690082	1.00[AMR][1000 genomes]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77957000-77993600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:77957000-77994200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:77966600-77992800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:77967200-77993200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:77967400-77990400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:77969800-77994400	Weak transcription	Stomach Mucosa	stomach
7	chr4:77970400-77994800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:77973800-77994400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:77974000-77994800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:77975800-77995600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:77976400-77993000	Weak transcription	Fetal Brain Male	brain
12	chr4:77976600-77992600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr4:77977800-77991800	Weak transcription	Fetal Heart	heart
14	chr4:77980000-77994800	Weak transcription	Colonic Mucosa	Colon
15	chr4:77981400-77992400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:77981400-77994000	Weak transcription	Hela-S3	cervix
17	chr4:77983600-77990800	Weak transcription	HepG2	liver
18	chr4:77983600-77992000	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:77983600-77994000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:77983600-77994800	Weak transcription	Esophagus	oesophagus
21	chr4:77983600-77995400	Weak transcription	Gastric	stomach
22	chr4:77983800-77993200	Weak transcription	Aorta	Aorta
23	chr4:77984400-77993800	Weak transcription	A549	lung
24	chr4:77984400-77993800	Weak transcription	HSMMtube	muscle
25	chr4:77985200-77992600	Weak transcription	NHLF	lung
26	chr4:77985600-77993600	Weak transcription	Brain Angular Gyrus	brain
27	chr4:77985800-77993600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:77985800-77994200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:77986000-77993600	Weak transcription	Brain Substantia Nigra	brain
30	chr4:77986000-77994600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:77986200-77994400	Weak transcription	Right Ventricle	heart
32	chr4:77986400-77992800	Weak transcription	Brain Germinal Matrix	brain
33	chr4:77986800-77991000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:77987400-77990800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:77987400-77991000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:77987400-77991800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:77987400-77992600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:77987400-77993200	Weak transcription	HMEC	breast
39	chr4:77987400-77993800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:77987400-77993800	Weak transcription	Fetal Lung	lung
41	chr4:77987400-77994000	Weak transcription	Fetal Kidney	kidney
42	chr4:77987400-77995400	Weak transcription	Lung	lung
43	chr4:77987600-77990400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:77987600-77991000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:77987600-77991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:77987600-77991600	Weak transcription	K562	blood
47	chr4:77987600-77992200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr4:77987600-77992600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:77987600-77992800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:77987600-77992800	Weak transcription	NHEK	skin

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