Variant report

Variant	rs1449416
Chromosome Location	chr14:85705013-85705014
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1442575	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1620072	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs1626761	0.88[CEU][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1667500	0.88[AFR][1000 genomes]
rs1667504	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs1667510	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1767388	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1767395	0.84[AFR][1000 genomes]
rs1767399	0.88[AFR][1000 genomes]
rs1767425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1767426	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74068476	0.83[ASN][1000 genomes]
rs74068485	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9323753	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3401331	chr14:85332747-85716351	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832846	chr14:85517736-85715650	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3381198	chr14:85690248-85709087	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv902168	chr14:85693904-85716792	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	esv2422273	chr14:85703149-85767292	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr14:85695800-85707200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:85701200-85707200	Weak transcription	HSMM	muscle
3	chr14:85701200-85707400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:85701200-85715200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:85701400-85705200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr14:85701400-85707200	Weak transcription	Osteobl	bone
7	chr14:85701600-85706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:85701600-85707400	Weak transcription	NHEK	skin
9	chr14:85701800-85707200	Weak transcription	HMEC	breast
10	chr14:85702600-85707200	Weak transcription	HUVEC	blood vessel
11	chr14:85703000-85705800	Weak transcription	A549	lung
12	chr14:85704600-85706400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr14:85704800-85705200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:85704800-85706400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:85705000-85705600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr14:85705000-85705800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr14:85705000-85706000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr14:85705000-85706200	Enhancers	HUES48 Cell Line	embryonic stem cell

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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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