Variant report

Variant	rs7310940
Chromosome Location	chr12:42229234-42229235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11181181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181185	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181189	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615402	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12813155	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497150	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497151	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1497176	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1497179	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2897382	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302180	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1047870	chr12:42158954-42254373	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
4	nsv1041975	chr12:42159517-42254373	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
5	nsv1037646	chr12:42160758-42254373	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
6	nsv1055012	chr12:42221483-42253502	Enhancers ZNF genes & repeats Weak transcription	lncRNA	n/a	inside rSNPs	diseases
7	nsv1051707	chr12:42221483-42254373	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42208800-42231000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:42218600-42257000	Weak transcription	Aorta	Aorta
3	chr12:42229200-42229800	Enhancers	Fetal Intestine Small	intestine
4	chr12:42229200-42230000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr12:42229200-42230000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:42229200-42230000	Enhancers	Monocytes-CD14+_RO01746	blood

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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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