Variant report

Variant	rs1964517
Chromosome Location	chr18:29957789-29957790
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10048362	0.89[ASN][1000 genomes]
rs1037753	0.88[ASN][1000 genomes]
rs10438935	0.83[EUR][1000 genomes]
rs10468833	0.83[EUR][1000 genomes]
rs10468904	0.83[EUR][1000 genomes]
rs10502596	0.89[ASN][1000 genomes]
rs10775451	0.83[EUR][1000 genomes]
rs10853421	0.83[EUR][1000 genomes]
rs11081761	0.90[EUR][1000 genomes]
rs11081763	0.83[EUR][1000 genomes]
rs11081764	0.83[EUR][1000 genomes]
rs11081765	0.81[EUR][1000 genomes]
rs11665147	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11665150	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11665190	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11873325	0.89[ASN][1000 genomes]
rs11874614	0.83[EUR][1000 genomes]
rs13380968	0.83[EUR][1000 genomes]
rs13381088	0.89[ASN][1000 genomes]
rs13381344	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1458858	0.83[EUR][1000 genomes]
rs16963270	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963287	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16963289	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16963326	0.80[ASN][1000 genomes]
rs16963334	0.88[ASN][1000 genomes]
rs16963381	0.80[EUR][1000 genomes]
rs17744051	0.84[EUR][1000 genomes]
rs17811666	0.81[EUR][1000 genomes]
rs2034968	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052757	0.84[EUR][1000 genomes]
rs2055060	0.83[EUR][1000 genomes]
rs2421462	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28500590	0.88[ASN][1000 genomes]
rs3786308	0.89[ASN][1000 genomes]
rs3786310	0.89[ASN][1000 genomes]
rs3826611	0.89[ASN][1000 genomes]
rs41527551	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4561543	0.87[EUR][1000 genomes]
rs4597393	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56808255	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57978863	0.85[EUR][1000 genomes]
rs59211646	0.88[ASN][1000 genomes]
rs60451418	0.88[EUR][1000 genomes]
rs60928334	0.83[EUR][1000 genomes]
rs6506968	0.83[EUR][1000 genomes]
rs7226639	0.85[ASN][1000 genomes]
rs7227973	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7228553	0.83[EUR][1000 genomes]
rs7229026	0.83[EUR][1000 genomes]
rs7233422	0.88[EUR][1000 genomes]
rs7243086	0.83[EUR][1000 genomes]
rs7243481	0.83[EUR][1000 genomes]
rs7243539	0.81[EUR][1000 genomes]
rs7243964	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7245123	0.81[EUR][1000 genomes]
rs72933532	0.83[EUR][1000 genomes]
rs72933545	0.83[EUR][1000 genomes]
rs7359734	0.83[EUR][1000 genomes]
rs73958414	0.89[ASN][1000 genomes]
rs73958415	0.88[ASN][1000 genomes]
rs8083848	0.80[EUR][1000 genomes]
rs8087781	0.82[EUR][1000 genomes]
rs8091089	0.81[EUR][1000 genomes]
rs8093474	0.82[EUR][1000 genomes]
rs8093807	0.83[EUR][1000 genomes]
rs8094914	0.81[EUR][1000 genomes]
rs8096329	0.83[EUR][1000 genomes]
rs8097263	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs968099	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs968177	0.83[EUR][1000 genomes]
rs968178	0.83[EUR][1000 genomes]
rs982521	0.80[EUR][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29946200-29958200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:29946800-29959000	Weak transcription	Fetal Lung	lung
3	chr18:29950000-29966200	Weak transcription	Fetal Brain Female	brain
4	chr18:29951200-29959200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr18:29951800-29961800	Weak transcription	Esophagus	oesophagus
6	chr18:29952800-29958200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr18:29952800-29963600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:29952800-29964600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr18:29952800-29973200	Weak transcription	Fetal Stomach	stomach
10	chr18:29953000-29958800	Weak transcription	Right Atrium	heart
11	chr18:29953000-29966600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr18:29953400-29966600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr18:29953600-29958800	Weak transcription	Left Ventricle	heart
14	chr18:29954000-29958600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:29954000-29974000	Weak transcription	HSMMtube	muscle
16	chr18:29954200-29958400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr18:29954200-29960000	Weak transcription	Small Intestine	intestine
18	chr18:29954200-29961800	Weak transcription	Gastric	stomach
19	chr18:29954200-29963200	Weak transcription	HSMM	muscle
20	chr18:29954200-29970800	Weak transcription	Fetal Intestine Large	intestine
21	chr18:29954200-29974400	Weak transcription	Fetal Muscle Leg	muscle
22	chr18:29954400-29957800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr18:29954400-29958000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr18:29954400-29958000	Weak transcription	Ovary	ovary
25	chr18:29954400-29958400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:29954400-29958600	Weak transcription	NH-A	brain
27	chr18:29954400-29958800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr18:29954400-29961600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr18:29954400-29961800	Weak transcription	Aorta	Aorta
30	chr18:29954400-29962000	Weak transcription	HUVEC	blood vessel
31	chr18:29954400-29962400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr18:29954400-29962800	Weak transcription	Brain Anterior Caudate	brain
33	chr18:29954400-29963000	Weak transcription	Fetal Kidney	kidney
34	chr18:29954400-29972600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr18:29954600-29957800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:29954600-29958200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:29954600-29958200	Weak transcription	Adipose Nuclei	Adipose
38	chr18:29954600-29958400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr18:29954600-29958400	Weak transcription	HMEC	breast
40	chr18:29954600-29958600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr18:29954600-29961600	Weak transcription	NHEK	skin
42	chr18:29954600-29961800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:29954600-29962600	Weak transcription	Brain Angular Gyrus	brain
44	chr18:29954600-29962600	Weak transcription	Brain Hippocampus Middle	brain
45	chr18:29954600-29963000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr18:29954600-29974200	Weak transcription	Fetal Intestine Small	intestine
47	chr18:29954800-29957800	Weak transcription	Liver	Liver
48	chr18:29954800-29958400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr18:29955000-29958400	Weak transcription	Hela-S3	cervix
50	chr18:29955400-29957800	Weak transcription	Brain Cingulate Gyrus	brain

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