Variant report

Variant	rs7311389
Chromosome Location	chr12:119659379-119659380
allele	C/T
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:13)

rs_ID	r²[population]
rs11064723	1.00[AMR][1000 genomes]
rs12296614	1.00[AMR][1000 genomes]
rs12297189	1.00[AMR][1000 genomes]
rs12298987	1.00[AMR][1000 genomes]
rs12299039	1.00[AMR][1000 genomes]
rs12300871	1.00[AMR][1000 genomes]
rs12303668	1.00[AMR][1000 genomes]
rs12304236	1.00[AMR][1000 genomes]
rs12307998	1.00[AMR][1000 genomes]
rs28515693	1.00[AMR][1000 genomes]
rs7310373	1.00[AMR][1000 genomes]
rs7977260	1.00[AMR][1000 genomes]
rs7978697	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv832528	chr12:119638211-119793401	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119647000-119662400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:119655400-119659800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:119658200-119662400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:119658400-119663200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:119658600-119662400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:119658800-119663000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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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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