Variant report

Variant	rs4499310
Chromosome Location	chr18:29947372-29947373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29942791..29945437-chr18:29947108..29948708,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10502590	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877702	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1458860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963196	0.98[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs16963205	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963218	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963225	0.94[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963230	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963239	0.98[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963245	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963279	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421455	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35779665	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4485446	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55866517	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56945883	1.00[EUR][1000 genomes]
rs57478295	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57613491	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59676860	0.98[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73956901	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73956902	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73958403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73958404	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73958405	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73958411	1.00[ASN][1000 genomes]
rs902950	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902951	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29926800-29951000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr18:29930000-29947600	Weak transcription	Esophagus	oesophagus
3	chr18:29930200-29953600	Weak transcription	Fetal Muscle Leg	muscle
4	chr18:29931200-29948000	Weak transcription	Brain Angular Gyrus	brain
5	chr18:29932800-29954000	Weak transcription	Ovary	ovary
6	chr18:29933000-29948000	Weak transcription	Brain Hippocampus Middle	brain
7	chr18:29937600-29952600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:29938200-29948000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr18:29938400-29947600	Weak transcription	Gastric	stomach
10	chr18:29939000-29947600	Weak transcription	Left Ventricle	heart
11	chr18:29939000-29948000	Weak transcription	Right Atrium	heart
12	chr18:29939000-29951000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:29939000-29952800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr18:29939800-29947400	Weak transcription	Fetal Heart	heart
15	chr18:29940600-29947800	Weak transcription	Brain Substantia Nigra	brain
16	chr18:29942800-29947800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr18:29942800-29948000	Weak transcription	NHEK	skin
18	chr18:29942800-29948200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:29945000-29947400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr18:29945000-29947800	Weak transcription	Fetal Brain Male	brain
21	chr18:29945400-29947800	Enhancers	Liver	Liver
22	chr18:29945400-29948400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr18:29945400-29948800	Enhancers	Fetal Intestine Small	intestine
24	chr18:29945400-29948800	Enhancers	Stomach Mucosa	stomach
25	chr18:29945800-29947800	Weak transcription	Aorta	Aorta
26	chr18:29946000-29948200	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr18:29946000-29948800	Enhancers	HMEC	breast
28	chr18:29946000-29949000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr18:29946000-29949200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:29946200-29947600	Weak transcription	Placenta	Placenta
31	chr18:29946200-29951000	Weak transcription	Lung	lung
32	chr18:29946200-29958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr18:29946400-29947400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr18:29946400-29947600	Weak transcription	Pancreas	Pancrea
35	chr18:29946400-29947600	Weak transcription	Small Intestine	intestine
36	chr18:29946800-29947800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:29946800-29947800	Weak transcription	Hela-S3	cervix
38	chr18:29946800-29951000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr18:29946800-29953600	Weak transcription	Colon Smooth Muscle	Colon
40	chr18:29946800-29959000	Weak transcription	Fetal Lung	lung
41	chr18:29947000-29948000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:29947000-29948000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr18:29947000-29948000	Weak transcription	Fetal Intestine Large	intestine
44	chr18:29947000-29951400	Weak transcription	Adipose Nuclei	Adipose
45	chr18:29947000-29951400	Weak transcription	HSMM	muscle
46	chr18:29947000-29952400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr18:29947000-29953800	Weak transcription	Fetal Kidney	kidney
48	chr18:29947200-29947800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr18:29947200-29957200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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