Variant report

Variant	rs2291634
Chromosome Location	chr5:57752965-57752966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

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	POLR2A	chr5:57752745-57756859	MCF10A-Er-Src	breast:	n/a	n/a
6	JUND	chr5:57752879-57753207	HepG2	liver:	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	chr5:57752955-57753188	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr5:57747447-57756979	PANC-1	pancreas:	n/a	n/a
13	TCF12	chr5:57752739-57753431	A549	lung:	n/a	n/a
14	POLR2A	chr5:57752728-57753423	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr5:57752823-57757004	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr5:57749768-57756922	HUVEC	blood vessel:	n/a	n/a
17	CHD1	chr5:57751128-57757458	IMR90	lung:	n/a	n/a
18	POLR2A	chr5:57752678-57756811	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr5:57745515-57757046	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr5:57752808-57753216	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr5:57752689-57757258	PANC-1	pancreas:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13171933	0.90[ASN][1000 genomes]
rs13181056	0.85[ASN][1000 genomes]
rs13181234	0.86[ASN][1000 genomes]
rs154491	0.81[AFR][1000 genomes]
rs158158	0.81[AFR][1000 genomes]
rs158159	0.81[AFR][1000 genomes]
rs16888143	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2216723	0.82[ASN][1000 genomes]
rs32614	0.81[AFR][1000 genomes]
rs35724255	0.90[ASN][1000 genomes]
rs3763110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4146755	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42739	0.81[AFR][1000 genomes]
rs57661905	0.87[ASN][1000 genomes]
rs71626105	0.90[ASN][1000 genomes]
rs72758129	0.82[ASN][1000 genomes]
rs73092596	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73094318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73094327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73094329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73757781	0.82[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57747800-57753000	Strong transcription	Liver	Liver
2	chr5:57747800-57754200	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:57748400-57753400	Strong transcription	Fetal Intestine Large	intestine
4	chr5:57748600-57755000	Transcr. at gene 5' and 3'	A549	lung
5	chr5:57748800-57754200	Weak transcription	Primary B cells from cord blood	blood
6	chr5:57748800-57754600	Weak transcription	Spleen	Spleen
7	chr5:57749000-57754400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:57749200-57753000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:57749200-57753400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
10	chr5:57749200-57754600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
11	chr5:57749200-57754800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
12	chr5:57749200-57755000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:57749200-57755000	Transcr. at gene 5' and 3'	NH-A	brain
14	chr5:57749400-57753200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:57749400-57753600	Genic enhancers	Fetal Heart	heart
16	chr5:57749600-57753000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:57749600-57753800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:57749600-57754800	Transcr. at gene 5' and 3'	HSMMtube	muscle
19	chr5:57749600-57755000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:57749800-57754600	Transcr. at gene 5' and 3'	HMEC	breast
21	chr5:57750000-57753000	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr5:57750000-57753200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr5:57750000-57753200	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
24	chr5:57750000-57754600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr5:57750000-57754600	Transcr. at gene 5' and 3'	NHEK	skin
26	chr5:57750000-57754800	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
27	chr5:57750000-57754800	Transcr. at gene 5' and 3'	HSMM	muscle
28	chr5:57750000-57754800	Transcr. at gene 5' and 3'	Osteobl	bone
29	chr5:57750000-57756800	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr5:57750200-57753000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:57750200-57753400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:57750200-57753400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:57750200-57754600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:57750200-57755000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:57750400-57753200	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
36	chr5:57750400-57753600	Weak transcription	Colonic Mucosa	Colon
37	chr5:57750400-57754000	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
38	chr5:57750400-57754200	Weak transcription	Stomach Mucosa	stomach
39	chr5:57750400-57754600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:57750600-57753200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr5:57750600-57754600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:57750800-57753200	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
43	chr5:57750800-57754400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
44	chr5:57750800-57754800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
45	chr5:57750800-57756800	Active TSS	Right Atrium	heart
46	chr5:57751000-57753200	Transcr. at gene 5' and 3'	Ovary	ovary
47	chr5:57751000-57753400	Genic enhancers	Placenta Amnion	Placenta Amnion
48	chr5:57751000-57753600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
49	chr5:57751000-57753800	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr5:57751000-57754400	Transcr. at gene 5' and 3'	Fetal Lung	lung

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