Variant report

Variant	rs722216
Chromosome Location	chr12:42305357-42305358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10491997	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880189	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11181236	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11181237	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11181239	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11181240	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12310489	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1234008	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1497168	0.84[EUR][1000 genomes]
rs1860604	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1860605	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2406427	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7305744	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7308779	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7309314	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs986619	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv899043	chr12:42058138-42313665	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899044	chr12:42058138-42321161	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42300000-42311800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:42301000-42307800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:42301600-42309600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:42302200-42311600	Weak transcription	Fetal Lung	lung
5	chr12:42302200-42311600	Weak transcription	Right Atrium	heart
6	chr12:42302400-42311800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:42304200-42305400	Enhancers	Fetal Brain Male	brain
8	chr12:42304400-42305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:42304400-42306200	Enhancers	Brain Germinal Matrix	brain
10	chr12:42304600-42305400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:42304600-42305600	Enhancers	Fetal Brain Female	brain
12	chr12:42304800-42305600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr12:42305000-42305600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:42305000-42305800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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