Variant report

Variant	rs56139840
Chromosome Location	chr18:45648469-45648470
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11082650	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11082651	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11082652	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11082654	0.83[EUR][1000 genomes]
rs11659684	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11662144	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11662174	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11662183	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11663144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4075294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4939733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4940270	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4940275	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55661045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56267244	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57710082	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72920081	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8083305	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8083469	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8083557	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8083615	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8083937	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8084118	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9957041	0.83[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	nsv909616	chr18:45467806-45844500	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45634200-45650400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:45634400-45650400	Weak transcription	Hela-S3	cervix
3	chr18:45637200-45648800	Weak transcription	Stomach Mucosa	stomach
4	chr18:45637200-45649400	Weak transcription	Colonic Mucosa	Colon
5	chr18:45638200-45649400	Weak transcription	Fetal Stomach	stomach
6	chr18:45640200-45649000	Weak transcription	Spleen	Spleen
7	chr18:45640200-45649200	Weak transcription	Ovary	ovary
8	chr18:45640400-45649600	Weak transcription	Lung	lung
9	chr18:45640400-45649600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr18:45642400-45657200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr18:45643200-45649000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr18:45645800-45649600	Weak transcription	Fetal Kidney	kidney
13	chr18:45646200-45649800	Weak transcription	Fetal Intestine Small	intestine
14	chr18:45646200-45662000	Weak transcription	Right Atrium	heart
15	chr18:45646600-45649000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr18:45646600-45651200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:45647800-45648600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr18:45648200-45648600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr18:45648200-45649000	Strong transcription	Gastric	stomach
20	chr18:45648200-45649200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr18:45648200-45651400	Enhancers	Fetal Muscle Trunk	muscle
22	chr18:45648400-45650400	Enhancers	Esophagus	oesophagus
23	chr18:45648400-45653000	Enhancers	Placenta	Placenta

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