Variant report

Variant	rs6449469
Chromosome Location	chr5:59631776-59631777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10051380	1.00[EUR][1000 genomes]
rs10071249	1.00[EUR][1000 genomes]
rs10078847	1.00[EUR][1000 genomes]
rs16877970	1.00[EUR][1000 genomes]
rs16877985	1.00[EUR][1000 genomes]
rs6870606	1.00[EUR][1000 genomes]
rs6886142	1.00[EUR][1000 genomes]
rs7705703	1.00[EUR][1000 genomes]
rs7712059	1.00[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	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv830316	chr5:59480269-59689829	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59625200-59646800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59626600-59635800	Weak transcription	Fetal Stomach	stomach
3	chr5:59628200-59631800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:59630000-59632400	Enhancers	Colon Smooth Muscle	Colon
5	chr5:59630200-59632000	Enhancers	Rectal Smooth Muscle	rectum
6	chr5:59630400-59632000	Weak transcription	Fetal Brain Male	brain
7	chr5:59630400-59633000	Enhancers	Stomach Smooth Muscle	stomach
8	chr5:59630600-59635200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:59630800-59635400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:59630800-59635400	Weak transcription	Osteobl	bone
11	chr5:59631000-59632200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:59631000-59635200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:59631000-59635200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:59631000-59635200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:59631000-59635400	Weak transcription	HMEC	breast
16	chr5:59631000-59635400	Weak transcription	NHDF-Ad	bronchial
17	chr5:59631200-59635600	Weak transcription	Aorta	Aorta
18	chr5:59631400-59634200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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