Variant report

Variant	rs72862912
Chromosome Location	chr4:77223414-77223415
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	IRF1	chr4:77222173-77223644	K562	blood:	n/a	chr4:77222724-77222736 chr4:77222726-77222737
2	JUND	chr4:77222105-77223804	SK-N-SH	brain:	n/a	chr4:77222801-77222812 chr4:77222676-77222687 chr4:77222678-77222686 chr4:77223358-77223372
3	TCF12	chr4:77222309-77223441	SK-N-SH	brain:	n/a	chr4:77223259-77223267
4	JUN	chr4:77221544-77223500	K562	blood:	n/a	chr4:77222801-77222812 chr4:77222678-77222686 chr4:77223358-77223372
5	GATA3	chr4:77222166-77223514	SK-N-SH	brain:	n/a	n/a
6	RCOR1	chr4:77222373-77223735	K562	blood:	n/a	n/a
7	ARID3A	chr4:77222366-77223456	HepG2	liver:	n/a	n/a
8	PBX3	chr4:77222408-77223481	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:77133799..77136444-chr4:77221126..77223704,2	MCF-7	breast:
2	chr4:77222341..77224253-chr4:77260902..77263034,2	K562	blood:
3	chr4:77222370..77224167-chr4:77296627..77298649,2	K562	blood:
4	chr4:77220724..77224341-chr4:77233034..77236870,4	K562	blood:
5	chr4:77068027..77071224-chr4:77221950..77225006,3	K562	blood:
6	chr4:77212481..77214935-chr4:77221336..77223671,3	K562	blood:

Variant related genes	Relation type
FAM47E-STBD1	TF binding region
ENSG00000138760	Chromatin interaction
ENSG00000138750	Chromatin interaction
ENSG00000189157	Chromatin interaction

rs_ID	r²[population]
rs72862952	1.00[AFR][1000 genomes]
rs72862990	1.00[AFR][1000 genomes]
rs72864608	1.00[AFR][1000 genomes]
rs72864651	1.00[AFR][1000 genomes]

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77212600-77227000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:77219600-77223600	Enhancers	Stomach Mucosa	stomach
3	chr4:77220000-77225600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr4:77220200-77225200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:77220400-77224400	Enhancers	Pancreas	Pancrea
6	chr4:77220600-77226000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:77220600-77226200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr4:77220800-77224400	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:77220800-77226000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:77220800-77226000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr4:77221000-77223800	Enhancers	Fetal Muscle Leg	muscle
12	chr4:77221000-77224400	Enhancers	Fetal Intestine Large	intestine
13	chr4:77221000-77224400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr4:77221400-77223800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:77221400-77223800	Enhancers	HSMM	muscle
16	chr4:77221400-77226200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr4:77221600-77224800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:77221600-77226200	Weak transcription	Spleen	Spleen
19	chr4:77221800-77224400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:77221800-77224400	Enhancers	Fetal Intestine Small	intestine
21	chr4:77222000-77223600	Enhancers	HMEC	breast
22	chr4:77222000-77223800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:77222000-77223800	Enhancers	HSMMtube	muscle
24	chr4:77222000-77224200	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr4:77222000-77226400	Weak transcription	Gastric	stomach
26	chr4:77222200-77223600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:77222200-77223600	Enhancers	Fetal Heart	heart
28	chr4:77222200-77223600	Enhancers	NHLF	lung
29	chr4:77222200-77223600	Enhancers	Osteobl	bone
30	chr4:77222200-77223800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:77222200-77225000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:77222400-77226400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:77222600-77223600	Flanking Active TSS	A549	lung
34	chr4:77222800-77226000	Weak transcription	Right Atrium	heart
35	chr4:77222800-77226200	Enhancers	Liver	Liver
36	chr4:77222800-77226600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:77223000-77225000	Enhancers	K562	blood
38	chr4:77223000-77225400	Weak transcription	Primary B cells from cord blood	blood
39	chr4:77223000-77225800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr4:77223000-77226200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:77223000-77226200	Weak transcription	Aorta	Aorta
42	chr4:77223200-77223600	Enhancers	Duodenum Mucosa	Duodenum
43	chr4:77223200-77223600	Flanking Active TSS	HepG2	liver
44	chr4:77223200-77223800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr4:77223200-77225200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:77223200-77226200	Weak transcription	Colonic Mucosa	Colon
47	chr4:77223200-77226200	Weak transcription	Ovary	ovary
48	chr4:77223200-77226400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:77223200-77226400	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:77223200-77226600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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