Variant report

Variant	rs1444250
Chromosome Location	chr12:62501174-62501175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1009168	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1025935	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10784281	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10784282	0.90[JPT][hapmap]
rs10877788	0.91[JPT][hapmap]
rs10877789	0.91[JPT][hapmap]
rs10877791	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10877792	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10877797	0.91[JPT][hapmap]
rs10877798	0.91[JPT][hapmap]
rs10877799	0.90[JPT][hapmap]
rs10877800	0.90[JPT][hapmap]
rs10877802	0.90[JPT][hapmap]
rs11174305	0.90[JPT][hapmap]
rs11174316	0.90[JPT][hapmap]
rs11174323	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11174324	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11174325	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11174329	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174334	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11174339	0.90[JPT][hapmap]
rs11174347	0.90[JPT][hapmap]
rs12423325	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12425896	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12425938	0.90[JPT][hapmap]
rs12426217	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12579846	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12826489	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12829595	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1348527	0.95[CEU][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1373456	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1444249	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1444254	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1545305	0.91[JPT][hapmap]
rs1920101	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1920102	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs1920103	0.81[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs1975494	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1985875	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35115655	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35194524	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9668015	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9668289	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9668369	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9668676	0.95[CEU][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9668833	0.91[JPT][hapmap]
rs9668865	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9669389	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs9706154	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9738122	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9738294	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9739546	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9739682	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9739766	0.91[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832435	chr12:62407000-62601835	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62499600-62501200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:62500200-62501200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr12:62500200-62501200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr12:62500200-62501200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:62500600-62501200	Active TSS	Brain Hippocampus Middle	brain
6	chr12:62500800-62501200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:62500800-62501200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:62500800-62501200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr12:62500800-62501200	Active TSS	Right Atrium	heart
10	chr12:62500800-62501400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:62501000-62501200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:62501000-62501200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:62501000-62501200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:62501000-62501600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:62501000-62501600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr12:62501000-62501600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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