Variant report

Variant	rs7243492
Chromosome Location	chr18:13090011-13090012
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16940057	0.83[AFR][1000 genomes]
rs16940075	0.83[AFR][1000 genomes]
rs16940084	0.83[AFR][1000 genomes]
rs1851569	0.83[AFR][1000 genomes]
rs2027698	0.83[AFR][1000 genomes]
rs57104210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57697412	0.83[AFR][1000 genomes]
rs59126396	0.83[AFR][1000 genomes]
rs59469521	1.00[AMR][1000 genomes]
rs59483039	0.83[AFR][1000 genomes]
rs59546709	1.00[AMR][1000 genomes]
rs61739747	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7232442	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
2	chr18:13048200-13095600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr18:13056600-13095600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr18:13067000-13094600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr18:13069200-13092800	Weak transcription	Small Intestine	intestine
6	chr18:13071000-13095600	Weak transcription	Right Ventricle	heart
7	chr18:13071400-13095600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr18:13071600-13090600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr18:13072000-13095800	Weak transcription	Fetal Brain Male	brain
10	chr18:13072200-13094400	Weak transcription	Pancreas	Pancrea
11	chr18:13072400-13095600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr18:13072800-13090800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr18:13073000-13093200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr18:13073200-13090600	Weak transcription	Brain Angular Gyrus	brain
15	chr18:13073200-13090600	Weak transcription	Brain Substantia Nigra	brain
16	chr18:13073400-13090600	Weak transcription	Fetal Kidney	kidney
17	chr18:13073400-13093800	Weak transcription	Fetal Heart	heart
18	chr18:13073400-13094000	Weak transcription	NHLF	lung
19	chr18:13074000-13090600	Weak transcription	Aorta	Aorta
20	chr18:13074200-13090600	Weak transcription	HSMMtube	muscle
21	chr18:13075200-13094400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:13075400-13090600	Weak transcription	NHEK	skin
23	chr18:13075400-13105400	Weak transcription	Psoas Muscle	Psoas
24	chr18:13075800-13090800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr18:13075800-13095600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr18:13076000-13090600	Weak transcription	Colon Smooth Muscle	Colon
27	chr18:13076000-13090800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr18:13076200-13090600	Weak transcription	Brain Anterior Caudate	brain
29	chr18:13076200-13090600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr18:13076200-13090600	Weak transcription	NH-A	brain
31	chr18:13076200-13093600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr18:13076200-13095600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr18:13076400-13090400	Weak transcription	Hela-S3	cervix
34	chr18:13076400-13090600	Weak transcription	Esophagus	oesophagus
35	chr18:13076400-13095600	Weak transcription	Colonic Mucosa	Colon
36	chr18:13076600-13090800	Weak transcription	A549	lung
37	chr18:13077200-13095800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr18:13077800-13090400	Weak transcription	Brain Hippocampus Middle	brain
39	chr18:13077800-13090400	Weak transcription	HepG2	liver
40	chr18:13083200-13097600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr18:13084400-13096600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr18:13084600-13090600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr18:13084600-13090600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr18:13084600-13090600	Weak transcription	Gastric	stomach
45	chr18:13084600-13090600	Weak transcription	Spleen	Spleen
46	chr18:13084600-13090800	Weak transcription	Ovary	ovary
47	chr18:13084600-13092000	Weak transcription	Brain Germinal Matrix	brain
48	chr18:13084800-13090600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr18:13084800-13090600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr18:13084800-13090600	Weak transcription	Placenta	Placenta

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