Variant report

Variant	rs503388
Chromosome Location	chr18:8073694-8073695
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10468772	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10853358	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10853359	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11081354	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11081355	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11081356	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11081358	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12185338	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12956937	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12959661	0.86[EUR][1000 genomes]
rs1296003	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1296337	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1297388	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1298292	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1788069	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1942958	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1942959	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1942960	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2156236	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34398246	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs478396	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs484494	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs486607	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs488952	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs490065	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491890	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs492841	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs493221	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs499764	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5000485	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs502843	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs506248	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs507445	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs511993	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs545910	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs552448	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs561488	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs561613	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs567523	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs575538	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs576519	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583909	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs611022	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs615129	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs616698	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618104	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs618466	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs619379	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs620346	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs623258	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs629391	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs630924	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs631838	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs635157	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs641089	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6417046	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs649598	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6506545	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6506546	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs658110	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs674823	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs680016	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs681491	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs693630	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7234055	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8082776	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8088354	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9807625	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8052600-8078200	Weak transcription	Ovary	ovary
2	chr18:8052600-8105200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr18:8063600-8073800	Weak transcription	Pancreas	Pancrea
4	chr18:8063600-8074000	Weak transcription	Liver	Liver
5	chr18:8065600-8101600	Weak transcription	Aorta	Aorta
6	chr18:8066200-8094000	Weak transcription	Hela-S3	cervix
7	chr18:8067000-8085800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr18:8067400-8110200	Weak transcription	Right Ventricle	heart
9	chr18:8067600-8094800	Weak transcription	NHDF-Ad	bronchial
10	chr18:8067800-8081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr18:8067800-8081600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr18:8068000-8078800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr18:8068000-8084000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr18:8068000-8085800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr18:8068000-8092400	Weak transcription	Thymus	Thymus
16	chr18:8068000-8094800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr18:8068000-8100000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr18:8068400-8078200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr18:8068400-8095200	Weak transcription	Lung	lung
20	chr18:8068400-8101600	Weak transcription	Fetal Stomach	stomach
21	chr18:8068400-8102400	Weak transcription	Fetal Thymus	thymus
22	chr18:8068600-8124800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr18:8068800-8084400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr18:8068800-8084800	Weak transcription	Fetal Heart	heart
25	chr18:8069000-8087600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr18:8069000-8102200	Weak transcription	Fetal Muscle Leg	muscle
27	chr18:8069000-8102400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr18:8069000-8102400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr18:8069400-8103400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr18:8069600-8088400	Weak transcription	HMEC	breast
31	chr18:8069600-8102400	Weak transcription	Brain Anterior Caudate	brain
32	chr18:8070000-8085800	Weak transcription	Brain Substantia Nigra	brain
33	chr18:8070000-8085800	Weak transcription	A549	lung
34	chr18:8070000-8093200	Weak transcription	Fetal Lung	lung
35	chr18:8070000-8097600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr18:8070200-8078000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:8070200-8085400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr18:8071400-8073800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr18:8072000-8077000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr18:8072000-8079000	Weak transcription	Adipose Nuclei	Adipose
41	chr18:8073600-8074000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr18:8073600-8074200	Enhancers	Psoas Muscle	Psoas
43	chr18:8073600-8074600	Enhancers	Left Ventricle	heart

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