Variant report

Variant	rs3134383
Chromosome Location	chr8:118688105-118688106
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10955824	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1396352	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1508558	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1508562	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1508563	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1508568	0.96[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs218019	0.96[CEU][hapmap];0.91[JPT][hapmap]
rs3105767	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3105774	0.86[EUR][1000 genomes]
rs3134384	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3134385	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7465392	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs976980	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831438	chr8:118679896-118823600	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv891410	chr8:118684994-118730344	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118684800-118688400	Weak transcription	NH-A	brain
2	chr8:118684800-118693600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:118685000-118694200	Weak transcription	NHLF	lung
4	chr8:118685200-118688200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:118685200-118688200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:118685200-118688200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:118685200-118688400	Weak transcription	NHDF-Ad	bronchial
8	chr8:118685200-118688600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:118685200-118690400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:118687000-118689400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:118687000-118689800	Enhancers	NHEK	skin
12	chr8:118687200-118689200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:118687200-118689200	Enhancers	HMEC	breast
14	chr8:118687200-118689800	Enhancers	Dnd41	blood
15	chr8:118687400-118688400	Weak transcription	Osteobl	bone
16	chr8:118687400-118689200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:118687800-118688800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:118687800-118689000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:118687800-118689400	Enhancers	HSMM	muscle

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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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