Variant report

Variant	rs4768802
Chromosome Location	chr12:47741374-47741375
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:16)

rs_ID	r²[population]
rs10748469	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10785674	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785676	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10881095	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10881097	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10881099	0.80[ASN][1000 genomes]
rs11183899	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11183919	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12302802	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1421355	0.80[EUR][1000 genomes]
rs58058166	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6582705	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7956037	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7966682	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7967683	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7969338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47723200-47742200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:47737400-47748400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:47737600-47741600	Enhancers	Liver	Liver
4	chr12:47740200-47742400	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:47740800-47742400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:47740800-47742400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:47740800-47743000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr12:47740800-47743200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:47740800-47743400	Weak transcription	Osteobl	bone
10	chr12:47741000-47742000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr12:47741000-47742200	Weak transcription	A549	lung
12	chr12:47741000-47742400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:47741000-47743000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:47741000-47743600	Weak transcription	Stomach Mucosa	stomach
15	chr12:47741200-47742200	Weak transcription	Primary T helper naive cells from peripheral blood	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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