Variant report

Variant	rs58503437
Chromosome Location	chr1:174984380-174984381
allele	C/T
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	TCF12	chr1:174984216-174984852	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr1:174978735-174985117	K562	blood:	n/a	n/a
3	POLR2A	chr1:174984291-174984705	SK-N-SH	brain:	n/a	n/a
4	MAX	chr1:174984373-174984808	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr1:174984263-174984932	SK-N-SH	brain:	n/a	chr1:174984880-174984892 chr1:174984606-174984613 chr1:174984606-174984613 chr1:174984880-174984887 chr1:174984606-174984613
6	RCOR1	chr1:174984317-174984930	IMR90	lung:	n/a	n/a
7	POLR2A	chr1:174980911-174984712	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr1:174983885-174984702	IMR90	lung:	n/a	chr1:174984131-174984142
9	MAX	chr1:174984347-174984754	SK-N-SH	brain:	n/a	n/a
10	EP300	chr1:174984271-174984865	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr1:174984193-174985406	SK-N-MC	brain:	n/a	n/a
12	MXI1	chr1:174984095-174985002	IMR90	lung:	n/a	n/a
13	GATA3	chr1:174984296-174984933	SK-N-SH	brain:	n/a	chr1:174984880-174984892 chr1:174984606-174984613 chr1:174984606-174984613 chr1:174984880-174984887 chr1:174984606-174984613
14	POLR2A	chr1:174983510-174984450	MCF-7	breast:	n/a	n/a
15	FOSL2	chr1:174984363-174984829	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:174967096..174970659-chr1:174981028..174985682,6	MCF-7	breast:
2	chr1:174968752..174972930-chr1:174980465..174984788,7	MCF-7	breast:
3	chr1:174982973..174985491-chr1:174991343..174993295,2	MCF-7	breast:
4	chr1:174845505..174847927-chr1:174983132..174985506,2	K562	blood:

Variant related genes	Relation type
MRPS14	TF binding region
ENSG00000116161	Chromatin interaction
ENSG00000120333	Chromatin interaction
ENSG00000152061	Chromatin interaction
ENSG00000206659	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10489331	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489334	1.00[EUR][1000 genomes]
rs10912852	1.00[EUR][1000 genomes]
rs10912862	1.00[EUR][1000 genomes]
rs10912866	1.00[EUR][1000 genomes]
rs10912869	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061403	1.00[EUR][1000 genomes]
rs12062145	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12072529	1.00[EUR][1000 genomes]
rs12075140	1.00[EUR][1000 genomes]
rs12089375	1.00[EUR][1000 genomes]
rs13376513	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16847652	1.00[EUR][1000 genomes]
rs16847670	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16847689	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847701	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1894679	1.00[EUR][1000 genomes]
rs4650677	1.00[EUR][1000 genomes]
rs57512007	1.00[EUR][1000 genomes]
rs60411387	1.00[EUR][1000 genomes]
rs6425311	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6689751	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74128526	1.00[EUR][1000 genomes]
rs74128530	1.00[EUR][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174970000-174991800	Weak transcription	Stomach Mucosa	stomach
2	chr1:174970800-174986000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:174971000-174991600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:174973000-174990600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:174973200-174987800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:174973200-174987800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:174973200-174988200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:174973600-174987800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:174973600-174988200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:174973600-174990400	Strong transcription	Primary T cells from cord blood	blood
11	chr1:174973800-174984600	Strong transcription	NHDF-Ad	bronchial
12	chr1:174973800-174987600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:174973800-174987800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr1:174973800-174987800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:174973800-174987800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:174973800-174987800	Strong transcription	Fetal Intestine Large	intestine
17	chr1:174973800-174987800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:174973800-174988200	Strong transcription	Primary hematopoietic stem cells	blood
19	chr1:174973800-174988400	Strong transcription	Fetal Thymus	thymus
20	chr1:174973800-174988800	Strong transcription	Primary B cells from peripheral blood	blood
21	chr1:174973800-174988800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:174973800-174989800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:174974000-174987800	Strong transcription	Liver	Liver
24	chr1:174974000-174988200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:174974000-174988400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr1:174974200-174984400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:174974200-174985200	Strong transcription	Fetal Muscle Leg	muscle
28	chr1:174974200-174987600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:174974200-174987800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:174974200-174987800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:174974200-174987800	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr1:174974200-174987800	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:174974200-174987800	Strong transcription	A549	lung
34	chr1:174974200-174987800	Strong transcription	HMEC	breast
35	chr1:174974200-174987800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr1:174974200-174988200	Strong transcription	Thymus	Thymus
37	chr1:174974200-174988400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:174974200-174988400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:174974200-174988800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:174974200-174990200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:174974400-174985000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:174974400-174985600	Strong transcription	Adipose Nuclei	Adipose
43	chr1:174974400-174987600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr1:174974400-174987800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:174974400-174987800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:174974400-174987800	Strong transcription	Placenta	Placenta
47	chr1:174974400-174987800	Strong transcription	HepG2	liver
48	chr1:174974400-174988400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:174974600-174987000	Strong transcription	HSMM	muscle
50	chr1:174974600-174987400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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