Variant report

Variant	rs7231317
Chromosome Location	chr18:43513843-43513844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10432160	0.84[AMR][1000 genomes]
rs10432197	0.84[AMR][1000 genomes]
rs1075906	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11082496	0.85[ASN][1000 genomes]
rs1111937	0.84[ASN][1000 genomes]
rs1115698	0.85[ASN][1000 genomes]
rs3744998	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs3745000	0.88[AMR][1000 genomes]
rs4629066	0.90[AMR][1000 genomes]
rs475452	0.87[AMR][1000 genomes]
rs481755	0.87[AMR][1000 genomes]
rs56193097	0.84[ASN][1000 genomes]
rs56298801	0.83[ASN][1000 genomes]
rs62095408	0.85[ASN][1000 genomes]
rs630625	0.87[AMR][1000 genomes]
rs7226881	0.86[AMR][1000 genomes]
rs7230104	0.88[AMR][1000 genomes]
rs7231179	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7238724	0.86[AMR][1000 genomes]
rs72918390	0.86[AMR][1000 genomes]
rs8093119	0.87[AMR][1000 genomes]
rs8098175	0.88[AMR][1000 genomes]
rs967137	0.84[ASN][1000 genomes]
rs9948634	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9959763	0.87[AMR][1000 genomes]
rs9964220	0.88[AMR][1000 genomes]
rs9964347	0.87[AMR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43451800-43519600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:43469800-43519000	Weak transcription	A549	lung
3	chr18:43471800-43531600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr18:43472000-43536800	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr18:43475200-43535800	Strong transcription	Placenta	Placenta
6	chr18:43476600-43524000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:43477800-43516000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr18:43477800-43536800	Strong transcription	Primary T cells from cord blood	blood
9	chr18:43478000-43536600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr18:43482400-43530800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr18:43491600-43536000	Strong transcription	Fetal Intestine Large	intestine
12	chr18:43492400-43546600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:43494000-43546600	Weak transcription	Stomach Mucosa	stomach
14	chr18:43494200-43520800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr18:43496400-43518800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:43496600-43518800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr18:43499200-43516200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr18:43499800-43535200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr18:43501000-43515000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr18:43501000-43515600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr18:43501000-43515800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:43501000-43516600	Strong transcription	Adipose Nuclei	Adipose
23	chr18:43501000-43518800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr18:43501200-43514800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:43501200-43515600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:43501200-43516600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr18:43501200-43535800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr18:43501200-43536000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr18:43502600-43519400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr18:43503400-43518800	Weak transcription	NHEK	skin
31	chr18:43504600-43515600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr18:43505000-43528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr18:43505200-43518600	Weak transcription	Right Ventricle	heart
34	chr18:43505200-43518800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:43505200-43519200	Weak transcription	HMEC	breast
36	chr18:43505800-43517800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr18:43505800-43520000	Weak transcription	Small Intestine	intestine
38	chr18:43505800-43520600	Weak transcription	Psoas Muscle	Psoas
39	chr18:43507000-43515000	Strong transcription	Osteobl	bone
40	chr18:43507000-43515600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr18:43507200-43515600	Strong transcription	Liver	Liver
42	chr18:43507200-43516800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr18:43507400-43515400	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr18:43508200-43516200	Strong transcription	Colon Smooth Muscle	Colon
45	chr18:43508400-43514400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr18:43508800-43515400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr18:43509000-43518800	Weak transcription	Brain Substantia Nigra	brain
48	chr18:43509200-43520800	Weak transcription	Fetal Brain Male	brain
49	chr18:43509400-43518600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr18:43509400-43518600	Weak transcription	K562	blood

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