Variant report

Variant	rs12300509
Chromosome Location	chr12:72606814-72606815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10879376	0.92[ASN][1000 genomes]
rs11179083	0.80[ASN][1000 genomes]
rs11179106	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11179107	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11179108	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12228091	1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17110927	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34158767	0.92[ASN][1000 genomes]
rs35077498	1.00[ASN][1000 genomes]
rs35746434	0.92[ASN][1000 genomes]
rs7315442	0.90[CHB][hapmap];0.82[JPT][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422452	chr12:72485933-73175581	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv899257	chr12:72569746-73145896	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv832452	chr12:72584971-72764495	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:72602000-72609200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:72602200-72607600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:72602200-72607600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:72602200-72607600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:72605000-72607000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:72605000-72607000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:72605200-72607400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:72605200-72609200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:72605200-72609400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:72606400-72608200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:72606800-72608200	Enhancers	HUES48 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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