Variant report

Variant	rs7998891
Chromosome Location	chr13:76479888-76479889
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs2273995	0.92[JPT][hapmap];1.00[EUR][1000 genomes]
rs3783027	1.00[EUR][1000 genomes]
rs56915688	1.00[EUR][1000 genomes]
rs57908776	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58829651	0.89[ASN][1000 genomes]
rs58875660	1.00[EUR][1000 genomes]
rs59762752	1.00[EUR][1000 genomes]
rs66538840	0.83[ASN][1000 genomes]
rs68188615	0.83[ASN][1000 genomes]
rs685938	1.00[EUR][1000 genomes]
rs73542522	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73542557	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73542559	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74096469	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7995235	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7999724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8001457	0.89[ASN][1000 genomes]
rs8001459	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9318374	1.00[EUR][1000 genomes]
rs9593125	1.00[EUR][1000 genomes]
rs9593126	1.00[EUR][1000 genomes]
rs9593128	1.00[EUR][1000 genomes]
rs9600549	1.00[EUR][1000 genomes]
rs9600551	1.00[EUR][1000 genomes]
rs9600552	1.00[EUR][1000 genomes]
rs9600553	1.00[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	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76476400-76481000	Weak transcription	Fetal Muscle Leg	muscle
2	chr13:76476400-76481000	Weak transcription	Fetal Stomach	stomach
3	chr13:76476600-76482000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr13:76476600-76482200	Weak transcription	Left Ventricle	heart
5	chr13:76477200-76481000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr13:76477200-76481200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:76477400-76480800	Weak transcription	Psoas Muscle	Psoas
8	chr13:76478600-76486800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:76478800-76481800	Weak transcription	Fetal Heart	heart
10	chr13:76478800-76481800	Weak transcription	Fetal Lung	lung
11	chr13:76478800-76482200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:76479000-76480200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr13:76479200-76480600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:76479600-76480600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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