Variant report

Variant	rs60214917
Chromosome Location	chr18:29929683-29929684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10502591	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10502594	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10853420	0.85[EUR][1000 genomes]
rs11081757	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11504784	0.81[EUR][1000 genomes]
rs11872355	0.85[EUR][1000 genomes]
rs11872811	0.86[EUR][1000 genomes]
rs11874036	0.86[EUR][1000 genomes]
rs11876823	0.86[EUR][1000 genomes]
rs13381184	0.83[EUR][1000 genomes]
rs16963314	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963351	0.85[EUR][1000 genomes]
rs16963353	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963360	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963365	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17736440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17736489	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1841119	0.86[EUR][1000 genomes]
rs3073261	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55730180	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55861080	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55976613	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57230958	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57546420	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58220828	0.85[EUR][1000 genomes]
rs58435646	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58863502	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59340191	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59452754	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59630704	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60154857	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60949633	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73954805	0.83[EUR][1000 genomes]
rs73954806	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73954807	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73956875	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73956877	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73956878	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73956881	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73956882	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73956890	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73956898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73958413	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73958418	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73958422	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[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	nsv833616	chr18:29792336-29964212	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29904400-29930000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:29910600-29929800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:29920000-29930200	Weak transcription	Stomach Mucosa	stomach
4	chr18:29921600-29938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:29922600-29929800	Weak transcription	Fetal Heart	heart
6	chr18:29924000-29929800	Weak transcription	Esophagus	oesophagus
7	chr18:29924000-29930800	Enhancers	Brain Anterior Caudate	brain
8	chr18:29924200-29929800	Weak transcription	Fetal Muscle Leg	muscle
9	chr18:29924200-29936800	Weak transcription	Pancreas	Pancrea
10	chr18:29924200-29937000	Weak transcription	Left Ventricle	heart
11	chr18:29924400-29929800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr18:29925000-29930600	Enhancers	Brain Cingulate Gyrus	brain
13	chr18:29926800-29951000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr18:29927000-29929800	Weak transcription	Ovary	ovary
15	chr18:29927000-29929800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr18:29927200-29936800	Weak transcription	Psoas Muscle	Psoas
17	chr18:29927600-29930200	Enhancers	Fetal Brain Male	brain
18	chr18:29927800-29938200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr18:29928200-29929800	Weak transcription	Brain Hippocampus Middle	brain
20	chr18:29928200-29932000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr18:29928600-29930000	Weak transcription	Right Atrium	heart
22	chr18:29928800-29931200	Enhancers	Brain Angular Gyrus	brain
23	chr18:29928800-29933000	Enhancers	Colon Smooth Muscle	Colon
24	chr18:29929000-29929800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr18:29929000-29929800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr18:29929000-29931200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr18:29929000-29931600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:29929000-29932400	Enhancers	Rectal Smooth Muscle	rectum
29	chr18:29929000-29933600	Enhancers	Fetal Kidney	kidney
30	chr18:29929200-29929800	Active TSS	HSMMtube	muscle
31	chr18:29929200-29929800	Enhancers	NHEK	skin
32	chr18:29929200-29929800	Enhancers	Osteobl	bone
33	chr18:29929200-29930400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr18:29929200-29930600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:29929200-29931200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr18:29929200-29931600	Enhancers	HSMM	muscle
37	chr18:29929400-29929800	Enhancers	HUVEC	blood vessel
38	chr18:29929400-29930400	Flanking Active TSS	NH-A	brain
39	chr18:29929400-29930600	Enhancers	Brain Substantia Nigra	brain
40	chr18:29929600-29929800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:29929600-29929800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr18:29929600-29929800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:29929600-29929800	Enhancers	HMEC	breast
44	chr18:29929600-29929800	Flanking Active TSS	NHDF-Ad	bronchial
45	chr18:29929600-29930000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:29929600-29930000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr18:29929600-29930000	Enhancers	Liver	Liver
48	chr18:29929600-29930000	Enhancers	Fetal Lung	lung
49	chr18:29929600-29930000	Enhancers	Fetal Stomach	stomach
50	chr18:29929600-29930000	Active TSS	A549	lung

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