Variant report

Variant	rs1012246
Chromosome Location	chr14:72960751-72960752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1012247	0.86[CEU][hapmap]
rs11158957	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs12588021	1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1548686	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs1548688	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs2052027	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4903028	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs740535	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs917427	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72949400-72962600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:72953600-72961200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:72956600-72980400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:72956800-72962200	Weak transcription	Adipose Nuclei	Adipose
5	chr14:72958400-72961000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	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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