Variant report

Variant	rs12514209
Chromosome Location	chr5:2207460-2207461
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10060730	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11133938	0.96[ASN][1000 genomes]
rs6859292	0.91[ASN][1000 genomes]
rs9312988	0.92[ASN][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	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
2	nsv880947	chr5:2146761-2251313	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv881232	chr5:2150273-2213762	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv880789	chr5:2159490-2213762	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv596908	chr5:2186956-2254295	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:2201400-2207800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:2204000-2207600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:2204200-2208600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:2204600-2208400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:2205000-2207800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:2205800-2208000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:2205800-2208200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:2205800-2208600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:2206000-2208600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:2206600-2208400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:2206800-2207600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:2206800-2208800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:2207000-2207600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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