Variant report

Variant	rs1238283
Chromosome Location	chr12:42364618-42364619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1009721	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11118	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1157577	1.00[EUR][1000 genomes]
rs11836064	1.00[EUR][1000 genomes]
rs1233989	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1233991	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1233993	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1234007	1.00[EUR][1000 genomes]
rs1234031	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1234041	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1234103	1.00[EUR][1000 genomes]
rs1626596	1.00[EUR][1000 genomes]
rs1628339	1.00[EUR][1000 genomes]
rs1683199	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs1683203	1.00[EUR][1000 genomes]
rs1688846	1.00[EUR][1000 genomes]
rs1688876	1.00[EUR][1000 genomes]
rs17090752	1.00[EUR][1000 genomes]
rs1920698	1.00[EUR][1000 genomes]
rs2639131	1.00[EUR][1000 genomes]
rs56220552	1.00[EUR][1000 genomes]
rs57435495	1.00[EUR][1000 genomes]
rs58627781	1.00[EUR][1000 genomes]
rs58689889	1.00[EUR][1000 genomes]
rs59909142	1.00[EUR][1000 genomes]
rs7305651	1.00[EUR][1000 genomes]
rs73274214	1.00[EUR][1000 genomes]
rs73274218	1.00[EUR][1000 genomes]
rs73274236	1.00[EUR][1000 genomes]
rs73274275	1.00[EUR][1000 genomes]
rs73274301	1.00[EUR][1000 genomes]
rs73276306	1.00[EUR][1000 genomes]
rs73276346	1.00[EUR][1000 genomes]
rs73276375	1.00[EUR][1000 genomes]
rs73276381	1.00[EUR][1000 genomes]
rs73276390	1.00[EUR][1000 genomes]
rs73276399	1.00[EUR][1000 genomes]
rs73278206	1.00[EUR][1000 genomes]
rs73278217	1.00[EUR][1000 genomes]
rs73278222	1.00[EUR][1000 genomes]
rs73278223	1.00[EUR][1000 genomes]
rs73278224	1.00[EUR][1000 genomes]
rs73278227	1.00[EUR][1000 genomes]
rs73278230	1.00[EUR][1000 genomes]
rs73278244	1.00[EUR][1000 genomes]
rs73278291	1.00[EUR][1000 genomes]
rs73280009	1.00[EUR][1000 genomes]
rs73280011	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73281814	1.00[EUR][1000 genomes]
rs73281820	1.00[EUR][1000 genomes]
rs74077430	1.00[EUR][1000 genomes]
rs758782	1.00[AFR][1000 genomes]
rs7970895	1.00[EUR][1000 genomes]
rs824690	1.00[EUR][1000 genomes]
rs824696	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs824698	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824715	1.00[EUR][1000 genomes]
rs824719	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824720	0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs824721	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs824723	1.00[EUR][1000 genomes]
rs824725	1.00[EUR][1000 genomes]
rs824727	1.00[EUR][1000 genomes]
rs824729	1.00[EUR][1000 genomes]
rs824731	1.00[EUR][1000 genomes]
rs824732	1.00[EUR][1000 genomes]
rs824733	1.00[EUR][1000 genomes]
rs824735	1.00[EUR][1000 genomes]
rs824737	1.00[EUR][1000 genomes]
rs844045	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs850964	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs850965	0.87[YRI][hapmap];1.00[EUR][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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42362000-42366000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:42362000-42366400	Weak transcription	Fetal Kidney	kidney
3	chr12:42362400-42376000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:42363000-42364800	Weak transcription	Fetal Lung	lung
5	chr12:42363000-42365600	Weak transcription	Fetal Stomach	stomach
6	chr12:42364600-42365200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:42364600-42365200	Enhancers	Aorta	Aorta

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