Variant report

Variant	rs1338698
Chromosome Location	chr6:145233830-145233831
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1128289	1.00[JPT][hapmap]
rs12524292	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17217446	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17805722	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4896764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62429684	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62429687	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62438851	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs62438854	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62438856	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9497102	0.87[AMR][1000 genomes]
rs9497119	0.86[AMR][1000 genomes]
rs9986446	0.84[AMR][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	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv1850377	chr6:145199259-145319640	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	4 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	chr6:145228000-145235600	Weak transcription	Right Atrium	heart
2	chr6:145232200-145234000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:145232400-145235600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:145233200-145234200	Enhancers	Liver	Liver
5	chr6:145233200-145234200	Enhancers	HSMM	muscle
6	chr6:145233200-145234800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:145233200-145234800	Enhancers	NHLF	lung
8	chr6:145233200-145235000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:145233200-145235000	Enhancers	Osteobl	bone
10	chr6:145233400-145234000	Enhancers	NH-A	brain
11	chr6:145233400-145234200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr6:145233600-145234000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:145233600-145234000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:145233800-145234000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:145233800-145234000	Active TSS	HSMMtube	muscle
16	chr6:145233800-145234200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr6:145233800-145234200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:145233800-145234200	Enhancers	Dnd41	blood
19	chr6:145233800-145234200	Flanking Active TSS	NHDF-Ad	bronchial

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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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