Variant report

Variant	rs11953614
Chromosome Location	chr5:120870243-120870244
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11747653	0.80[AFR][1000 genomes]
rs11750922	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13186151	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147921	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34924396	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35293138	0.82[ASN][1000 genomes]
rs6887408	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023679	chr5:120689805-120890257	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv882803	chr5:120722413-120873947	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv882806	chr5:120741900-120917249	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv882807	chr5:120758647-120873947	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv599618	chr5:120853669-120911071	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120869400-120871000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:120869400-120871400	Enhancers	Fetal Heart	heart
3	chr5:120870000-120871200	Enhancers	Right Atrium	heart
4	chr5:120870200-120870800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:120870200-120871200	Enhancers	Left Ventricle	heart

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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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