Variant report

Variant	rs16958599
Chromosome Location	chr18:45415614-45415615
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	SPI1	chr18:45415317-45415694	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:45412211..45417305-chr18:45454331..45458060,5	MCF-7	breast:
2	chr18:45411919..45413823-chr18:45415471..45417702,2	K562	blood:
3	chr18:45415548..45417143-chr18:45421431..45423138,3	K562	blood:
4	chr18:45415548..45417143-chr18:45421558..45423138,2	K562	blood:

Variant related genes	Relation type
SMAD2	TF binding region
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1051066	1.00[EUR][1000 genomes]
rs16958447	1.00[EUR][1000 genomes]
rs16958453	1.00[EUR][1000 genomes]
rs16958460	1.00[EUR][1000 genomes]
rs16958463	1.00[EUR][1000 genomes]
rs16958475	1.00[EUR][1000 genomes]
rs16958497	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958498	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958499	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958520	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs16958543	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958545	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958551	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958568	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958577	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958585	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958615	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958635	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16958643	0.82[YRI][hapmap];0.94[AFR][1000 genomes]
rs17815568	0.82[YRI][hapmap];0.94[AFR][1000 genomes]
rs1970666	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7232994	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72914353	0.97[AFR][1000 genomes]
rs8084846	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs948599	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45382200-45420400	Weak transcription	Right Ventricle	heart
2	chr18:45384200-45421200	Weak transcription	Gastric	stomach
3	chr18:45384200-45423000	Weak transcription	Lung	lung
4	chr18:45384400-45419600	Weak transcription	K562	blood
5	chr18:45384400-45423000	Weak transcription	Spleen	Spleen
6	chr18:45384800-45418400	Weak transcription	Fetal Brain Male	brain
7	chr18:45385600-45420800	Weak transcription	Brain Germinal Matrix	brain
8	chr18:45386800-45420400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr18:45386800-45420600	Weak transcription	Esophagus	oesophagus
10	chr18:45390600-45419600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:45391000-45418400	Weak transcription	HUVEC	blood vessel
12	chr18:45391200-45416400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:45395400-45420800	Weak transcription	Fetal Brain Female	brain
14	chr18:45396000-45418800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr18:45397000-45430600	Weak transcription	Brain Angular Gyrus	brain
16	chr18:45398200-45420400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr18:45399200-45420600	Weak transcription	Pancreas	Pancrea
18	chr18:45399600-45419000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr18:45400400-45432200	Weak transcription	Ovary	ovary
20	chr18:45400600-45424600	Weak transcription	Stomach Mucosa	stomach
21	chr18:45401200-45426000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr18:45401400-45420600	Weak transcription	Brain Anterior Caudate	brain
23	chr18:45401400-45424600	Weak transcription	Brain Hippocampus Middle	brain
24	chr18:45401600-45421400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr18:45401600-45423400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:45403800-45422200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr18:45404800-45417800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr18:45404800-45418000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr18:45405200-45423400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr18:45407400-45420600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:45407600-45421000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr18:45407800-45420000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr18:45408800-45420400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:45408800-45420400	Weak transcription	Left Ventricle	heart
35	chr18:45408800-45423000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr18:45409000-45417400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr18:45409000-45420400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr18:45409000-45420400	Weak transcription	Small Intestine	intestine
39	chr18:45409000-45420600	Weak transcription	Fetal Stomach	stomach
40	chr18:45409200-45417400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr18:45409200-45426400	Weak transcription	Fetal Kidney	kidney
42	chr18:45409600-45421200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr18:45409800-45418000	Strong transcription	Fetal Muscle Leg	muscle
44	chr18:45410600-45421200	Weak transcription	Psoas Muscle	Psoas
45	chr18:45410600-45421200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:45410600-45425000	Weak transcription	HSMMtube	muscle
47	chr18:45410800-45418400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr18:45410800-45419600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr18:45410800-45420600	Weak transcription	Right Atrium	heart
50	chr18:45410800-45420800	Weak transcription	HSMM	muscle

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