Variant report

Variant	rs1143806
Chromosome Location	chr12:63797815-63797816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63793684..63795622-chr12:63796848..63799129,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10219539	1.00[AMR][1000 genomes]
rs11174959	1.00[AMR][1000 genomes]
rs1146104	1.00[EUR][1000 genomes]
rs12299909	1.00[AMR][1000 genomes]
rs12300351	1.00[AMR][1000 genomes]
rs12311676	1.00[AMR][1000 genomes]
rs12322829	1.00[AMR][1000 genomes]
rs1251773	1.00[EUR][1000 genomes]
rs1303183	0.89[AFR][1000 genomes]
rs478074	0.95[AFR][1000 genomes]
rs511720	0.89[AFR][1000 genomes]
rs511794	1.00[EUR][1000 genomes]
rs513532	1.00[EUR][1000 genomes]
rs531530	1.00[EUR][1000 genomes]
rs557955	1.00[EUR][1000 genomes]
rs56273638	1.00[EUR][1000 genomes]
rs59197805	1.00[EUR][1000 genomes]
rs59727783	1.00[EUR][1000 genomes]
rs60555289	1.00[EUR][1000 genomes]
rs60790785	1.00[EUR][1000 genomes]
rs699625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7304068	1.00[EUR][1000 genomes]
rs7315184	1.00[EUR][1000 genomes]
rs7315546	1.00[AMR][1000 genomes]
rs74097303	1.00[EUR][1000 genomes]
rs74097306	1.00[EUR][1000 genomes]
rs74097307	1.00[EUR][1000 genomes]
rs74097309	1.00[EUR][1000 genomes]
rs74097311	1.00[EUR][1000 genomes]
rs74097312	1.00[EUR][1000 genomes]
rs74097313	1.00[EUR][1000 genomes]
rs74097315	1.00[EUR][1000 genomes]
rs74097316	1.00[EUR][1000 genomes]
rs74097317	1.00[EUR][1000 genomes]
rs74097349	1.00[AMR][1000 genomes]
rs74100818	1.00[EUR][1000 genomes]
rs74100819	1.00[EUR][1000 genomes]
rs74100820	1.00[EUR][1000 genomes]
rs74100821	1.00[EUR][1000 genomes]
rs74100822	1.00[EUR][1000 genomes]
rs74100823	1.00[EUR][1000 genomes]
rs7957105	1.00[AMR][1000 genomes]
rs7979930	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1035736	chr12:63526274-63920372	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541510	chr12:63526274-63920372	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1052866	chr12:63562442-63879794	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541511	chr12:63562442-63879794	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv832439	chr12:63688083-63865226	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1044694	chr12:63746069-63920831	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2422401	chr12:63778527-64017057	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv899167	chr12:63795229-63906892	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63796600-63798000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:63797600-63802600	Weak transcription	Fetal Intestine Large	intestine

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