Variant report

Variant	rs12513690
Chromosome Location	chr5:2066713-2066714
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFS6-5	chr5:2066640-2067530	XLOC_004250

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10051081	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10058322	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10064133	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332663	0.85[EUR][1000 genomes]
rs13183008	0.89[EUR][1000 genomes]
rs13183011	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17644704	1.00[ASN][1000 genomes]
rs28447661	0.89[EUR][1000 genomes]
rs35101464	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35751770	0.89[EUR][1000 genomes]
rs3923314	1.00[ASN][1000 genomes]
rs4320305	1.00[ASN][1000 genomes]
rs4361564	0.88[EUR][1000 genomes]
rs4397169	0.82[EUR][1000 genomes]
rs4866655	1.00[ASN][1000 genomes]
rs4866708	1.00[ASN][1000 genomes]
rs4975831	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975834	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4975835	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56160320	1.00[ASN][1000 genomes]
rs67138270	0.88[EUR][1000 genomes]
rs67504913	0.88[EUR][1000 genomes]
rs7449198	0.86[EUR][1000 genomes]
rs7708695	1.00[ASN][1000 genomes]
rs7709625	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7719270	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
3	nsv915846	chr5:1891098-2167677	Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1026930	chr5:1898993-2126061	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv427705	chr5:1950467-2115059	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1032941	chr5:2038130-2072872	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv596902	chr5:2041665-2069209	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv1032759	chr5:2044117-2091631	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1020211	chr5:2045699-2104887	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv596906	chr5:2053049-2068750	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2066000-2066800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:2066000-2069000	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr5:2066200-2067000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:2066600-2067200	Bivalent Enhancer	Fetal Brain Male	brain
5	chr5:2066600-2067200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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