Variant report

Variant	rs7311590
Chromosome Location	chr12:41399197-41399198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10506180	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10879397	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10879545	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11179081	0.82[EUR][1000 genomes]
rs11179176	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11179281	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11179347	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11179395	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11179609	0.82[ASN][1000 genomes]
rs11611881	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11614303	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12371918	0.82[ASN][1000 genomes]
rs1388670	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17552679	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17624000	0.84[ASN][1000 genomes]
rs3794250	0.82[ASN][1000 genomes]
rs7308370	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs935103	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]

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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1042296	chr12:41372512-41401840	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41374600-41404800	Weak transcription	Brain Angular Gyrus	brain
2	chr12:41395000-41405200	Weak transcription	Ovary	ovary
3	chr12:41398400-41400800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr12:41398600-41402000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:41398600-41403600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:41399000-41404400	Weak transcription	Aorta	Aorta
7	chr12:41399000-41404800	Weak transcription	Brain Inferior Temporal Lobe	brain

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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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