Variant report

Variant	rs4884026
Chromosome Location	chr13:76481859-76481860
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10507839	0.83[EUR][1000 genomes]
rs12429274	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17715327	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17716148	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1853475	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2275589	0.87[GIH][hapmap];1.00[MEX][hapmap];0.93[AMR][1000 genomes]
rs4884025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885356	0.87[GIH][hapmap];1.00[MEX][hapmap]
rs56978359	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][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	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1054431	chr13:76460431-76885094	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv541837	chr13:76460431-76885094	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76476600-76482000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr13:76476600-76482200	Weak transcription	Left Ventricle	heart
3	chr13:76478600-76486800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:76478800-76482200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:76481000-76482400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:76481000-76482400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr13:76481000-76482600	Enhancers	Fetal Muscle Leg	muscle
8	chr13:76481000-76483000	Enhancers	Fetal Stomach	stomach
9	chr13:76481400-76482200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr13:76481400-76482400	Weak transcription	Psoas Muscle	Psoas
11	chr13:76481600-76482200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:76481600-76482200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr13:76481600-76482400	Weak transcription	Ovary	ovary
14	chr13:76481800-76482000	Enhancers	Fetal Lung	lung
15	chr13:76481800-76482400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr13:76481800-76482600	Enhancers	Fetal Heart	heart

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

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