Variant report

Variant	rs702723
Chromosome Location	chr5:57753456-57753457
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	chr5:57752678-57753706	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr5:57745705-57757136	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr5:57746016-57757149	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr5:57750892-57756934	HUVEC	blood vessel:	n/a	n/a
5	STAT3	chr5:57753383-57753582	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:57752745-57756859	MCF10A-Er-Src	breast:	n/a	n/a
7	SIN3AK20	chr5:57749882-57757124	MCF-7	breast:	n/a	n/a
8	POLR2A	chr5:57751357-57756911	MCF10A-Er-Src	breast:	n/a	n/a
9	BCL3	chr5:57751905-57755240	A549	lung:	n/a	n/a
10	POLR2A	chr5:57752721-57756293	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr5:57747447-57756979	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr5:57752823-57757004	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr5:57749768-57756922	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr5:57753312-57753479	MCF-7	breast:	n/a	n/a
15	CHD1	chr5:57751128-57757458	IMR90	lung:	n/a	n/a
16	POLR2A	chr5:57752678-57756811	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr5:57745515-57757046	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr5:57752689-57757258	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:56718251..56719814-chr5:57752697..57755659,2	MCF-7	breast:

Variant related genes	Relation type
PLK2	TF binding region
ENSG00000250308	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1389308	0.82[JPT][hapmap]
rs32613	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs697133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697134	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs697139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs702720	0.82[JPT][hapmap]
rs7704785	0.82[JPT][hapmap]
rs832624	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs832626	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs832629	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs832632	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs963615	0.91[AFR][1000 genomes]

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57747800-57754200	Weak transcription	Colon Smooth Muscle	Colon
2	chr5:57748600-57755000	Transcr. at gene 5' and 3'	A549	lung
3	chr5:57748800-57754200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:57748800-57754600	Weak transcription	Spleen	Spleen
5	chr5:57749000-57754400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr5:57749200-57754600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
7	chr5:57749200-57754800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
8	chr5:57749200-57755000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:57749200-57755000	Transcr. at gene 5' and 3'	NH-A	brain
10	chr5:57749400-57753600	Genic enhancers	Fetal Heart	heart
11	chr5:57749600-57753800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr5:57749600-57754800	Transcr. at gene 5' and 3'	HSMMtube	muscle
13	chr5:57749600-57755000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:57749800-57754600	Transcr. at gene 5' and 3'	HMEC	breast
15	chr5:57750000-57754600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:57750000-57754600	Transcr. at gene 5' and 3'	NHEK	skin
17	chr5:57750000-57754800	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
18	chr5:57750000-57754800	Transcr. at gene 5' and 3'	HSMM	muscle
19	chr5:57750000-57754800	Transcr. at gene 5' and 3'	Osteobl	bone
20	chr5:57750000-57756800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr5:57750200-57754600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:57750200-57755000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:57750400-57753600	Weak transcription	Colonic Mucosa	Colon
24	chr5:57750400-57754000	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
25	chr5:57750400-57754200	Weak transcription	Stomach Mucosa	stomach
26	chr5:57750400-57754600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:57750600-57754600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:57750800-57754400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
29	chr5:57750800-57754800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
30	chr5:57750800-57756800	Active TSS	Right Atrium	heart
31	chr5:57751000-57753600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
32	chr5:57751000-57753800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:57751000-57754400	Transcr. at gene 5' and 3'	Fetal Lung	lung
34	chr5:57751000-57754400	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
35	chr5:57751000-57754400	Transcr. at gene 5' and 3'	NHLF	lung
36	chr5:57751000-57754600	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:57751000-57756800	Active TSS	Brain Angular Gyrus	brain
38	chr5:57751200-57753800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:57751200-57753800	Transcr. at gene 5' and 3'	Fetal Brain Male	brain
40	chr5:57751200-57754000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr5:57751400-57754200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:57751400-57754200	Transcr. at gene 5' and 3'	Hela-S3	cervix
43	chr5:57751400-57754400	Weak transcription	Brain Substantia Nigra	brain
44	chr5:57751600-57753600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr5:57751600-57753800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr5:57751600-57754200	Weak transcription	Pancreas	Pancrea
47	chr5:57751600-57754400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:57751600-57754400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:57751600-57754600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:57751600-57756800	Active TSS	Rectal Smooth Muscle	rectum

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