Variant report

Variant	rs57072282
Chromosome Location	chr18:13041830-13041831
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11080621	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11080622	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872263	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11873826	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12232629	0.87[EUR][1000 genomes]
rs16940054	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16940077	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1786285	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28880030	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35637816	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs473808	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55637272	0.82[ASN][1000 genomes]
rs56163906	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs575125	0.86[ASN][1000 genomes]
rs57607448	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57770092	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58764311	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59385500	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59572954	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60369117	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61155546	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61610540	0.89[EUR][1000 genomes]
rs6505778	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7228108	0.81[ASN][1000 genomes]
rs7231935	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7236159	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7239379	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7240309	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7243977	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72874177	0.91[EUR][1000 genomes]
rs72874185	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72875863	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72875879	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72877625	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8086911	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8098299	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8182426	0.91[EUR][1000 genomes]
rs9303778	0.91[EUR][1000 genomes]
rs977104	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9953855	0.86[ASN][1000 genomes]
rs9958439	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9959522	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9965066	0.94[EUR][1000 genomes];0.91[ASN][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12995200-13042000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:13007200-13044000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr18:13008000-13046000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr18:13008400-13047200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr18:13013800-13052000	Weak transcription	Right Ventricle	heart
6	chr18:13013800-13053200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr18:13014200-13047200	Weak transcription	Psoas Muscle	Psoas
8	chr18:13015600-13048800	Weak transcription	Small Intestine	intestine
9	chr18:13016800-13053200	Weak transcription	Esophagus	oesophagus
10	chr18:13017200-13056000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr18:13017600-13042200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
13	chr18:13024000-13042400	Weak transcription	Fetal Brain Female	brain
14	chr18:13024200-13042200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr18:13028400-13052000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr18:13030000-13048600	Weak transcription	Brain Substantia Nigra	brain
17	chr18:13031000-13048400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr18:13031000-13048600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr18:13032000-13047000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr18:13032000-13048000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr18:13032000-13048200	Weak transcription	Colon Smooth Muscle	Colon
22	chr18:13032000-13056000	Weak transcription	HSMMtube	muscle
23	chr18:13032200-13042000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr18:13032200-13043000	Weak transcription	Pancreas	Pancrea
25	chr18:13032400-13048600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr18:13032600-13042000	Weak transcription	Brain Hippocampus Middle	brain
27	chr18:13032600-13048600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr18:13032800-13042000	Weak transcription	NH-A	brain
29	chr18:13033000-13042200	Weak transcription	Fetal Kidney	kidney
30	chr18:13033000-13043000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr18:13033000-13046000	Weak transcription	Brain Angular Gyrus	brain
32	chr18:13033000-13046000	Weak transcription	Spleen	Spleen
33	chr18:13033000-13047200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr18:13033000-13052200	Weak transcription	Fetal Brain Male	brain
35	chr18:13033200-13042000	Weak transcription	Osteobl	bone
36	chr18:13033400-13053800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr18:13033600-13042200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr18:13033600-13046800	Weak transcription	HepG2	liver
39	chr18:13033800-13042000	Weak transcription	NHDF-Ad	bronchial
40	chr18:13033800-13042200	Weak transcription	HSMM	muscle
41	chr18:13034000-13042000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr18:13035600-13043400	Strong transcription	GM12878-XiMat	blood
43	chr18:13036200-13043400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr18:13036400-13043400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr18:13036400-13051400	Strong transcription	Primary B cells from cord blood	blood
46	chr18:13036600-13046000	Weak transcription	Brain Anterior Caudate	brain
47	chr18:13036800-13042200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr18:13036800-13043000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:13036800-13043000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr18:13036800-13046000	Weak transcription	Aorta	Aorta

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