Variant report

Variant	rs73281634
Chromosome Location	chr5:151153171-151153172
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	chr5:151148376-151153894	K562	blood:	n/a	n/a
2	POLR2A	chr5:151149612-151153471	K562	blood:	n/a	n/a
3	HCFC1	chr5:151149652-151154049	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr5:151150116-151153755	Hela-S3	cervix:	n/a	chr5:151151310-151151325
5	E2F4	chr5:151152465-151153795	MCF10A-Er-Src	breast:	n/a	chr5:151152645-151152654
6	POLR2A	chr5:151149728-151153989	GM12878	blood:	n/a	n/a
7	MYC	chr5:151152460-151153229	MCF10A-Er-Src	breast:	n/a	n/a
8	TAL1	chr5:151150316-151153204	K562	blood:	n/a	n/a
9	TBL1XR1	chr5:151152467-151154218	K562	blood:	n/a	n/a
10	POLR2A	chr5:151150047-151154062	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr5:151149601-151153858	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr5:151149702-151153234	K562	blood:	n/a	n/a
13	MAZ	chr5:151149916-151153383	K562	blood:	n/a	chr5:151151801-151151810 chr5:151151946-151151955 chr5:151151610-151151620 chr5:151151818-151151827
14	MXI1	chr5:151150055-151154459	SK-N-SH	brain:	n/a	chr5:151151310-151151325
15	POLR2A	chr5:151149700-151153955	HepG2	liver:	n/a	n/a
16	POLR2A	chr5:151149657-151153884	GM12891	blood:	n/a	n/a
17	POLR2A	chr5:151149565-151153397	GM18505	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:151064445..151066253-chr5:151150599..151153254,2	MCF-7	breast:
2	chr5:151152974..151155334-chr5:154133414..154135219,2	K562	blood:
3	chr5:151133870..151141079-chr5:151148554..151154544,14	MCF-7	breast:
4	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
ENSG00000113140	Chromatin interaction

rs_ID	r²[population]
rs10051560	1.00[AMR][1000 genomes]
rs10055008	1.00[AMR][1000 genomes]
rs10055248	1.00[AMR][1000 genomes]
rs10065309	1.00[AMR][1000 genomes]
rs10079059	1.00[AMR][1000 genomes]
rs10079784	1.00[AMR][1000 genomes]
rs10214405	1.00[AMR][1000 genomes]
rs10476999	1.00[AMR][1000 genomes]
rs10477002	1.00[AMR][1000 genomes]
rs11167554	1.00[AMR][1000 genomes]
rs13358809	1.00[AMR][1000 genomes]
rs28551068	1.00[AMR][1000 genomes]
rs57324465	0.80[AFR][1000 genomes]
rs62636581	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6579902	1.00[AMR][1000 genomes]
rs6579903	1.00[AMR][1000 genomes]
rs6871781	1.00[AMR][1000 genomes]
rs6885939	1.00[AMR][1000 genomes]
rs73279795	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281610	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281638	1.00[AMR][1000 genomes]
rs73281651	1.00[AMR][1000 genomes]
rs73281665	1.00[AMR][1000 genomes]
rs73281668	1.00[AMR][1000 genomes]
rs73281677	1.00[AMR][1000 genomes]
rs73281682	1.00[AMR][1000 genomes]
rs73281683	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281687	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285978	1.00[AMR][1000 genomes]
rs73285984	0.85[AFR][1000 genomes]
rs73285987	0.85[AFR][1000 genomes]
rs7706843	1.00[AMR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151149000-151153200	Active TSS	Rectal Smooth Muscle	rectum
2	chr5:151149600-151153600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr5:151149600-151153600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr5:151149600-151153600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:151149600-151153600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:151149600-151154400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr5:151149600-151155000	Active TSS	Psoas Muscle	Psoas
8	chr5:151149800-151153200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr5:151149800-151153200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr5:151149800-151153400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:151149800-151153400	Active TSS	Brain Angular Gyrus	brain
12	chr5:151149800-151153400	Active TSS	Fetal Intestine Large	intestine
13	chr5:151149800-151153600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:151149800-151154000	Active TSS	Brain Germinal Matrix	brain
15	chr5:151149800-151154400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr5:151149800-151154400	Active TSS	Hela-S3	cervix
17	chr5:151149800-151154400	Active TSS	NHLF	lung
18	chr5:151149800-151154800	Active TSS	Right Ventricle	heart
19	chr5:151149800-151155000	Active TSS	Aorta	Aorta
20	chr5:151150000-151153200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr5:151150000-151153200	Active TSS	Duodenum Mucosa	Duodenum
22	chr5:151150000-151153400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:151150000-151153400	Active TSS	Fetal Stomach	stomach
24	chr5:151150000-151153600	Active TSS	Ovary	ovary
25	chr5:151150000-151154000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:151150000-151154400	Active TSS	Fetal Kidney	kidney
27	chr5:151150000-151154400	Active TSS	GM12878-XiMat	blood
28	chr5:151150200-151153200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:151150200-151153200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:151150200-151153600	Active TSS	Fetal Intestine Small	intestine
31	chr5:151150200-151154200	Active TSS	Thymus	Thymus
32	chr5:151150200-151154200	Active TSS	HSMMtube	muscle
33	chr5:151150200-151154600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:151150200-151154600	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr5:151150400-151154200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:151150400-151154200	Active TSS	NHDF-Ad	bronchial
37	chr5:151150600-151153200	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr5:151150600-151153200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:151150600-151153600	Active TSS	HSMM	muscle
40	chr5:151150600-151154200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:151150800-151153600	Active TSS	Fetal Brain Male	brain
42	chr5:151150800-151153600	Active TSS	Fetal Muscle Leg	muscle
43	chr5:151150800-151154200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:151150800-151154200	Active TSS	HMEC	breast
45	chr5:151150800-151154600	Active TSS	Stomach Smooth Muscle	stomach
46	chr5:151151000-151153200	Active TSS	Placenta	Placenta
47	chr5:151151000-151153400	Active TSS	Fetal Muscle Trunk	muscle
48	chr5:151151000-151153600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:151151000-151153600	Active TSS	Muscle Satellite Cultured Cells	--
50	chr5:151151000-151153600	Active TSS	Fetal Thymus	thymus

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