Variant report

Variant	rs7305426
Chromosome Location	chr12:12156322-12156323
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10743973	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12301073	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1574096	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1806427	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4763748	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4763749	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6488481	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6488482	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6488483	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7133292	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7138656	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303792	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7956839	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7958862	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7965081	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7966813	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7972783	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7976590	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv898805	chr12:12119414-12156322	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12146800-12161600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:12152200-12160200	Weak transcription	Fetal Thymus	thymus
3	chr12:12152400-12160000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr12:12153000-12160000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:12153200-12159400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:12153200-12160000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:12153200-12160000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:12154600-12163200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:12155800-12157400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:12155800-12159400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:12155800-12159400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:12155800-12159400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr12:12156000-12157800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:12156000-12159800	Weak transcription	Primary T cells fromperipheralblood	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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