Variant report

Variant	rs1517591
Chromosome Location	chr4:16131893-16131894
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1028177	1.00[AMR][1000 genomes]
rs1517597	1.00[AMR][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	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 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	chr4:16124800-16132600	Enhancers	Fetal Heart	heart
2	chr4:16128200-16142600	Weak transcription	Right Atrium	heart
3	chr4:16128400-16132200	Weak transcription	Left Ventricle	heart
4	chr4:16128400-16136400	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:16128400-16137000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:16130400-16134000	Enhancers	HepG2	liver
7	chr4:16130600-16132200	Enhancers	Duodenum Mucosa	Duodenum
8	chr4:16130600-16132200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr4:16130600-16132600	Enhancers	Fetal Intestine Large	intestine
10	chr4:16130600-16132600	Enhancers	Stomach Mucosa	stomach
11	chr4:16131200-16132400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr4:16131200-16134600	Weak transcription	Fetal Stomach	stomach
13	chr4:16131400-16132000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:16131600-16132600	Enhancers	Right Ventricle	heart
15	chr4:16131800-16132200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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