Variant report

Variant	rs13116100
Chromosome Location	chr4:124814424-124814425
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10034152	0.81[AMR][1000 genomes]
rs1116266	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11732946	0.81[AMR][1000 genomes]
rs12639622	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12648267	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13101469	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13109690	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1519242	0.81[AMR][1000 genomes]
rs17492375	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2082502	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3097937	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3097939	0.82[ASN][1000 genomes]
rs34759155	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34845433	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35988830	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57389113	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62321841	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62321845	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62321850	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6845345	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs986345	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv432623	chr4:124780908-124851395	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
3	nsv830049	chr4:124793932-124955708	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124810600-124814800	Enhancers	NHDF-Ad	bronchial
2	chr4:124811000-124814600	Weak transcription	Placenta	Placenta
3	chr4:124812000-124815200	Enhancers	Fetal Intestine Large	intestine
4	chr4:124812200-124816800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:124812400-124815000	Enhancers	Fetal Intestine Small	intestine
6	chr4:124812800-124814800	Enhancers	Colon Smooth Muscle	Colon
7	chr4:124812800-124815400	Enhancers	Fetal Kidney	kidney
8	chr4:124813000-124815000	Enhancers	Fetal Stomach	stomach
9	chr4:124813000-124815600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr4:124813200-124814600	Enhancers	Fetal Heart	heart
11	chr4:124813600-124814800	Enhancers	Psoas Muscle	Psoas
12	chr4:124813600-124815000	Enhancers	NHLF	lung
13	chr4:124813600-124815800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr4:124813800-124814800	Enhancers	Aorta	Aorta
15	chr4:124813800-124814800	Enhancers	Ovary	ovary
16	chr4:124813800-124815000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:124813800-124815000	Enhancers	HSMMtube	muscle
18	chr4:124813800-124815000	Flanking Active TSS	HUVEC	blood vessel
19	chr4:124814000-124815000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:124814000-124815000	Enhancers	Osteobl	bone
21	chr4:124814000-124815400	Enhancers	HSMM	muscle
22	chr4:124814200-124814600	Enhancers	Stomach Mucosa	stomach
23	chr4:124814200-124814800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr4:124814200-124814800	Enhancers	Fetal Muscle Leg	muscle
25	chr4:124814200-124815000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr4:124814200-124815000	Flanking Active TSS	Fetal Lung	lung
27	chr4:124814400-124814800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:124814400-124814800	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr4:124814400-124814800	Enhancers	Left Ventricle	heart
30	chr4:124814400-124814800	Enhancers	Small Intestine	intestine
31	chr4:124814400-124815000	Active TSS	Right Atrium	heart
32	chr4:124814400-124815000	Flanking Active TSS	HepG2	liver
33	chr4:124814400-124815200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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