Variant report

Variant	rs72800291
Chromosome Location	chr5:151153547-151153548
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	POLR2A	chr5:151153492-151153947	GM12892	blood:	n/a	n/a
2	POLR2A	chr5:151148376-151153894	K562	blood:	n/a	n/a
3	HEY1	chr5:151153533-151153850	K562	blood:	n/a	n/a
4	HCFC1	chr5:151149652-151154049	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr5:151150116-151153755	Hela-S3	cervix:	n/a	chr5:151151310-151151325
6	E2F4	chr5:151152465-151153795	MCF10A-Er-Src	breast:	n/a	chr5:151152645-151152654
7	POLR2A	chr5:151153472-151153855	Hela-S3	cervix:	n/a	n/a
8	KAT2A	chr5:151153436-151153570	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:151153461-151153965	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:151149728-151153989	GM12878	blood:	n/a	n/a
11	TBL1XR1	chr5:151152467-151154218	K562	blood:	n/a	n/a
12	POLR2A	chr5:151150047-151154062	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr5:151153399-151153714	SK-N-SH_RA	brain:	n/a	n/a
14	STAT3	chr5:151153297-151153834	MCF10A-Er-Src	breast:	n/a	chr5:151153361-151153369
15	POLR2A	chr5:151153500-151153825	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr5:151149601-151153858	MCF10A-Er-Src	breast:	n/a	n/a
17	MXI1	chr5:151150055-151154459	SK-N-SH	brain:	n/a	chr5:151151310-151151325
18	POLR2A	chr5:151149700-151153955	HepG2	liver:	n/a	n/a
19	POLR2A	chr5:151149657-151153884	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:151152974..151155334-chr5:154133414..154135219,2	K562	blood:
2	chr5:151133870..151141079-chr5:151148554..151154544,14	MCF-7	breast:
3	chr5:151136180..151141661-chr5:151146894..151154161,25	MCF-7	breast:

Variant related genes	Relation type
ATOX1	TF binding region
ENSG00000155506	Chromatin interaction
ENSG00000177556	Chromatin interaction

rs_ID	r²[population]
rs6860383	1.00[ASN][1000 genomes]
rs72802241	1.00[ASN][1000 genomes]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151149600-151153600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr5:151149600-151153600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr5:151149600-151153600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:151149600-151153600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:151149600-151154400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:151149600-151155000	Active TSS	Psoas Muscle	Psoas
7	chr5:151149800-151153600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:151149800-151154000	Active TSS	Brain Germinal Matrix	brain
9	chr5:151149800-151154400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr5:151149800-151154400	Active TSS	Hela-S3	cervix
11	chr5:151149800-151154400	Active TSS	NHLF	lung
12	chr5:151149800-151154800	Active TSS	Right Ventricle	heart
13	chr5:151149800-151155000	Active TSS	Aorta	Aorta
14	chr5:151150000-151153600	Active TSS	Ovary	ovary
15	chr5:151150000-151154000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:151150000-151154400	Active TSS	Fetal Kidney	kidney
17	chr5:151150000-151154400	Active TSS	GM12878-XiMat	blood
18	chr5:151150200-151153600	Active TSS	Fetal Intestine Small	intestine
19	chr5:151150200-151154200	Active TSS	Thymus	Thymus
20	chr5:151150200-151154200	Active TSS	HSMMtube	muscle
21	chr5:151150200-151154600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:151150200-151154600	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr5:151150400-151154200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:151150400-151154200	Active TSS	NHDF-Ad	bronchial
25	chr5:151150600-151153600	Active TSS	HSMM	muscle
26	chr5:151150600-151154200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:151150800-151153600	Active TSS	Fetal Brain Male	brain
28	chr5:151150800-151153600	Active TSS	Fetal Muscle Leg	muscle
29	chr5:151150800-151154200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:151150800-151154200	Active TSS	HMEC	breast
31	chr5:151150800-151154600	Active TSS	Stomach Smooth Muscle	stomach
32	chr5:151151000-151153600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:151151000-151153600	Active TSS	Muscle Satellite Cultured Cells	--
34	chr5:151151000-151153600	Active TSS	Fetal Thymus	thymus
35	chr5:151151000-151153600	Active TSS	HUVEC	blood vessel
36	chr5:151151000-151154000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:151151000-151154200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:151151000-151154600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:151151800-151153800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr5:151151800-151154200	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr5:151152000-151153600	Active TSS	Fetal Heart	heart
42	chr5:151152000-151154600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:151152000-151155400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:151152200-151154000	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr5:151152200-151154200	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr5:151152200-151154200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:151152200-151154800	Active TSS	Right Atrium	heart
48	chr5:151152200-151156000	Transcr. at gene 5' and 3'	Dnd41	blood
49	chr5:151152400-151153800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr5:151152400-151153800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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