Variant report

Variant	rs1233996
Chromosome Location	chr12:42392718-42392719
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1009723	0.84[EUR][1000 genomes]
rs1016659	0.84[EUR][1000 genomes]
rs1024700	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10431604	0.90[EUR][1000 genomes]
rs1069644	0.87[JPT][hapmap]
rs10748323	0.91[EUR][1000 genomes]
rs1226303	0.95[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap]
rs1233988	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1233992	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1233994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1234032	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1234034	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1234037	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1234038	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1234040	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1234052	0.82[EUR][1000 genomes]
rs1234054	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1238290	0.87[JPT][hapmap]
rs12826710	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1463613	0.90[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap]
rs1628871	0.88[CEU][hapmap];0.92[JPT][hapmap]
rs1688855	0.81[AMR][1000 genomes]
rs1688874	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1732350	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1732351	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1732352	0.90[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1882139	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1994284	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6582378	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs712106	0.90[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap]
rs712119	0.87[JPT][hapmap]
rs712120	0.89[CEU][hapmap];0.87[JPT][hapmap]
rs712122	0.86[JPT][hapmap]
rs712123	0.87[JPT][hapmap]
rs7136038	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7303028	0.95[CEU][hapmap]
rs7305763	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7957081	0.84[EUR][1000 genomes]
rs7958455	0.91[EUR][1000 genomes]
rs7958582	0.93[EUR][1000 genomes]
rs7970115	0.94[JPT][hapmap]
rs824699	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs824716	0.90[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs824717	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs824718	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs824724	0.90[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap]
rs824734	0.95[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap]
rs824738	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs824741	0.87[JPT][hapmap]
rs844046	0.90[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs865420	0.95[CEU][hapmap];0.82[CHB][hapmap];0.93[JPT][hapmap]
rs917666	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[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	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
2	nsv832387	chr12:42345541-42465505	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42391800-42392800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:42392000-42392800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:42392000-42392800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:42392400-42392800	Active TSS	Brain Anterior Caudate	brain
5	chr12:42392400-42392800	Enhancers	Brain Germinal Matrix	brain
6	chr12:42392600-42392800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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