Variant report

Variant	rs7234750
Chromosome Location	chr18:43498527-43498528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43495972..43498114-chr18:43498517..43500327,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152223	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10432160	0.84[ASN][1000 genomes]
rs10432197	0.84[ASN][1000 genomes]
rs11082497	0.92[ASN][1000 genomes]
rs11082498	0.92[ASN][1000 genomes]
rs11082499	0.99[ASN][1000 genomes]
rs11082501	0.92[ASN][1000 genomes]
rs11661333	0.92[ASN][1000 genomes]
rs11665273	0.92[ASN][1000 genomes]
rs12232683	0.95[ASN][1000 genomes]
rs12454420	0.92[ASN][1000 genomes]
rs12604430	0.94[ASN][1000 genomes]
rs12604492	0.95[ASN][1000 genomes]
rs12604880	0.92[ASN][1000 genomes]
rs12953791	0.92[ASN][1000 genomes]
rs12954728	0.92[ASN][1000 genomes]
rs1371976	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1573404	0.90[ASN][1000 genomes]
rs1573405	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1893523	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2004084	0.91[ASN][1000 genomes]
rs2004085	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28430300	0.92[ASN][1000 genomes]
rs28729696	0.93[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs34775986	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3744996	0.94[ASN][1000 genomes]
rs3745000	0.86[ASN][1000 genomes]
rs3826634	0.92[ASN][1000 genomes]
rs4629066	0.91[ASN][1000 genomes]
rs57011365	0.87[ASN][1000 genomes]
rs57484487	0.94[ASN][1000 genomes]
rs57531499	0.86[ASN][1000 genomes]
rs58306126	0.95[ASN][1000 genomes]
rs58312765	0.92[ASN][1000 genomes]
rs59884993	0.92[ASN][1000 genomes]
rs60288752	0.97[ASN][1000 genomes]
rs60866799	0.90[ASN][1000 genomes]
rs61363974	0.95[ASN][1000 genomes]
rs61680317	0.89[ASN][1000 genomes]
rs6507648	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6507652	0.85[ASN][1000 genomes]
rs7226881	0.82[ASN][1000 genomes]
rs7230104	0.85[ASN][1000 genomes]
rs7235022	0.99[ASN][1000 genomes]
rs7235629	0.90[ASN][1000 genomes]
rs7238229	0.92[ASN][1000 genomes]
rs7242733	0.81[ASN][1000 genomes]
rs72918390	0.82[ASN][1000 genomes]
rs73953913	0.99[ASN][1000 genomes]
rs73953914	0.99[ASN][1000 genomes]
rs8086343	0.92[ASN][1000 genomes]
rs8086401	0.85[ASN][1000 genomes]
rs8087546	0.90[ASN][1000 genomes]
rs8088080	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8091448	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8094023	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8097415	0.95[ASN][1000 genomes]
rs8097963	0.92[ASN][1000 genomes]
rs8098012	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8098175	0.88[ASN][1000 genomes]
rs8098701	0.81[ASN][1000 genomes]
rs9946797	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9946933	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs9947914	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9948988	0.95[ASN][1000 genomes]
rs9955285	0.86[ASN][1000 genomes]
rs9955829	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9957288	0.97[ASN][1000 genomes]
rs9958844	0.94[ASN][1000 genomes]
rs9959763	0.88[ASN][1000 genomes]
rs9959893	0.94[ASN][1000 genomes]
rs9960220	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9960231	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9962353	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9963463	0.86[ASN][1000 genomes]
rs9964220	0.82[ASN][1000 genomes]
rs9964347	0.85[ASN][1000 genomes]
rs9964996	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9965433	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909588	chr18:43474795-43554371	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43442400-43500200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr18:43451800-43519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:43455400-43511400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr18:43456400-43500400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr18:43460800-43500200	Strong transcription	Osteobl	bone
6	chr18:43460800-43500400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr18:43469800-43519000	Weak transcription	A549	lung
8	chr18:43471000-43506400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr18:43471800-43500200	Strong transcription	Adipose Nuclei	Adipose
10	chr18:43471800-43531600	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr18:43472000-43536800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr18:43472600-43498600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr18:43473000-43505800	Strong transcription	Duodenum Mucosa	Duodenum
14	chr18:43474000-43505200	Strong transcription	NHLF	lung
15	chr18:43474400-43500000	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr18:43474600-43511000	Strong transcription	Primary B cells from cord blood	blood
17	chr18:43474600-43511200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr18:43474800-43511200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr18:43475200-43535800	Strong transcription	Placenta	Placenta
20	chr18:43475400-43500600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr18:43476600-43524000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr18:43476800-43500400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr18:43477000-43500000	Strong transcription	NHDF-Ad	bronchial
24	chr18:43477400-43498800	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr18:43477800-43498600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr18:43477800-43500000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr18:43477800-43513600	Strong transcription	Fetal Thymus	thymus
28	chr18:43477800-43516000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr18:43477800-43536800	Strong transcription	Primary T cells from cord blood	blood
30	chr18:43478000-43500200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr18:43478000-43500400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr18:43478000-43511400	Strong transcription	Dnd41	blood
33	chr18:43478000-43536600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr18:43478200-43506600	Strong transcription	Stomach Smooth Muscle	stomach
35	chr18:43478400-43505800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr18:43480200-43500200	Weak transcription	Right Atrium	heart
37	chr18:43481200-43498800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:43481200-43500200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr18:43482400-43530800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr18:43483000-43500000	Strong transcription	Liver	Liver
41	chr18:43485200-43511400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:43485400-43500200	Strong transcription	HSMMtube	muscle
43	chr18:43488800-43498600	Strong transcription	Ovary	ovary
44	chr18:43489200-43500200	Strong transcription	HSMM	muscle
45	chr18:43490800-43501400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr18:43491600-43511200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:43491600-43536000	Strong transcription	Fetal Intestine Large	intestine
48	chr18:43492400-43500200	Weak transcription	Psoas Muscle	Psoas
49	chr18:43492400-43502200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr18:43492400-43546600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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