Variant report

Variant	rs428040
Chromosome Location	chr15:93148467-93148468
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1826854	0.82[AMR][1000 genomes]
rs285715	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs285717	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs400225	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs409943	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs418340	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs439476	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs441604	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs452555	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs453916	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56316215	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56398031	0.81[EUR][1000 genomes]
rs6496959	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6496960	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948621	chr15:92688981-93158095	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
4	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
5	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
6	esv1808537	chr15:93146057-93191935	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93128400-93152200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:93139400-93159800	Weak transcription	Fetal Lung	lung
3	chr15:93142200-93156400	Weak transcription	Lung	lung
4	chr15:93142200-93160400	Weak transcription	Right Atrium	heart
5	chr15:93142400-93152400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:93143600-93160000	Weak transcription	Right Ventricle	heart
7	chr15:93145400-93149200	Weak transcription	Left Ventricle	heart
8	chr15:93145400-93151200	Weak transcription	Gastric	stomach
9	chr15:93146800-93160000	Weak transcription	Psoas Muscle	Psoas
10	chr15:93147000-93152400	Weak transcription	Esophagus	oesophagus
11	chr15:93147200-93148600	Weak transcription	Pancreas	Pancrea
12	chr15:93147400-93150800	Weak transcription	HSMMtube	muscle
13	chr15:93147600-93148600	Weak transcription	Ovary	ovary
14	chr15:93147600-93149200	Weak transcription	Fetal Muscle Leg	muscle
15	chr15:93147600-93149600	Weak transcription	HSMM	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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