Variant report

Variant	rs57263270
Chromosome Location	chr1:59252533-59252534
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	CHD1	chr1:59244118-59252745	IMR90	lung:	n/a	chr1:59250203-59250213
2	USF1	chr1:59252527-59252879	K562	blood:	n/a	n/a
3	RAD21	chr1:59247406-59252535	IMR90	lung:	n/a	chr1:59249492-59249505 chr1:59250252-59250265 chr1:59249113-59249126
4	USF1	chr1:59252451-59252898	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:59245489..59255081-chr1:59277954..59283925,49	MCF-7	breast:
2	chr1:59245578..59252912-chr1:59759683..59766457,13	MCF-7	breast:
3	chr1:59243458..59255133-chr1:59272031..59283720,29	K562	blood:
4	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:
5	chr1:59243405..59253875-chr1:59275011..59289058,45	MCF-7	breast:

Variant related genes	Relation type
JUN	TF binding region
ENSG00000232453	Chromatin interaction
ENSG00000272226	Chromatin interaction
ENSG00000172456	Chromatin interaction

rs_ID	r²[population]
rs12116591	0.94[AFR][1000 genomes]
rs4647011	0.87[AFR][1000 genomes]
rs4647013	0.81[AFR][1000 genomes]
rs4647019	0.81[AFR][1000 genomes]
rs57251170	0.94[AFR][1000 genomes]
rs58128095	0.88[AFR][1000 genomes]
rs58339644	0.81[AFR][1000 genomes]
rs60346486	0.94[AFR][1000 genomes]
rs74077827	0.94[AFR][1000 genomes]
rs74077829	0.94[AFR][1000 genomes]
rs74077830	0.94[AFR][1000 genomes]
rs74077832	0.94[AFR][1000 genomes]
rs74077834	0.94[AFR][1000 genomes]
rs74077835	0.94[AFR][1000 genomes]
rs74077837	0.94[AFR][1000 genomes]
rs74077838	0.94[AFR][1000 genomes]
rs74077839	0.94[AFR][1000 genomes]
rs74077840	0.94[AFR][1000 genomes]
rs74077844	0.94[AFR][1000 genomes]
rs74077847	0.94[AFR][1000 genomes]
rs74077850	0.94[AFR][1000 genomes]
rs74077851	0.89[AFR][1000 genomes]
rs74077854	0.94[AFR][1000 genomes]
rs74077855	0.94[AFR][1000 genomes]
rs74077856	0.94[AFR][1000 genomes]
rs74077866	0.94[AFR][1000 genomes]
rs74077868	0.94[AFR][1000 genomes]
rs74077870	0.94[AFR][1000 genomes]
rs74077873	0.94[AFR][1000 genomes]
rs74078326	0.94[AFR][1000 genomes]
rs74078327	0.94[AFR][1000 genomes]
rs74078639	0.81[AFR][1000 genomes]
rs74079803	0.94[AFR][1000 genomes]
rs74079808	0.88[AFR][1000 genomes]
rs74079815	0.82[AFR][1000 genomes]

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59251200-59252600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:59251400-59252600	Enhancers	HSMM	muscle
3	chr1:59251400-59252800	Enhancers	HUVEC	blood vessel
4	chr1:59251400-59256000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:59251400-59275000	Weak transcription	Ovary	ovary
6	chr1:59251400-59279200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:59251600-59252600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:59251600-59252600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:59251600-59252600	Enhancers	Fetal Heart	heart
10	chr1:59251600-59252600	Enhancers	Fetal Intestine Large	intestine
11	chr1:59251600-59252600	Enhancers	Fetal Lung	lung
12	chr1:59251600-59252600	Enhancers	Fetal Muscle Leg	muscle
13	chr1:59251600-59252600	Enhancers	Fetal Stomach	stomach
14	chr1:59251600-59252600	Weak transcription	Spleen	Spleen
15	chr1:59251600-59252600	Enhancers	HMEC	breast
16	chr1:59251600-59252800	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:59251600-59252800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:59251600-59253000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:59251600-59253200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:59251600-59256000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:59251600-59256800	Weak transcription	Esophagus	oesophagus
22	chr1:59251600-59260000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:59251600-59261400	Weak transcription	Psoas Muscle	Psoas
24	chr1:59251800-59252600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:59251800-59252600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:59251800-59252600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:59251800-59252600	Enhancers	Colon Smooth Muscle	Colon
28	chr1:59251800-59252600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:59251800-59252600	Enhancers	Osteobl	bone
30	chr1:59251800-59252800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:59251800-59252800	Enhancers	Pancreas	Pancrea
32	chr1:59251800-59252800	Enhancers	NHDF-Ad	bronchial
33	chr1:59251800-59252800	Enhancers	NHLF	lung
34	chr1:59251800-59253000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:59251800-59253400	Enhancers	Fetal Intestine Small	intestine
36	chr1:59251800-59253800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:59251800-59253800	Weak transcription	Primary B cells from cord blood	blood
38	chr1:59251800-59253800	Weak transcription	Brain Substantia Nigra	brain
39	chr1:59251800-59255000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr1:59251800-59255000	Weak transcription	Hela-S3	cervix
41	chr1:59251800-59255200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:59251800-59260000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:59251800-59261400	Weak transcription	Left Ventricle	heart
44	chr1:59251800-59264400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:59251800-59265000	Weak transcription	Stomach Mucosa	stomach
46	chr1:59251800-59277200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:59251800-59278200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:59252000-59252600	Weak transcription	Brain Angular Gyrus	brain
49	chr1:59252000-59252800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:59252000-59252800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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