Variant report

Variant	rs73339478
Chromosome Location	chr14:79934166-79934167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1003637	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11845057	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59213713	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339465	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339472	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73339491	0.89[AFR][1000 genomes]
rs885648	0.89[AFR][1000 genomes];1.00[AMR][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	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79927600-79944800	Weak transcription	Aorta	Aorta
2	chr14:79927800-79944000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr14:79931800-79942400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:79932200-79939000	Weak transcription	Brain Germinal Matrix	brain
5	chr14:79933000-79934200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:79933000-79934200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr14:79933600-79934600	Enhancers	Colon Smooth Muscle	Colon
8	chr14:79933600-79934600	Enhancers	Fetal Lung	lung
9	chr14:79933600-79941800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr14:79933800-79934200	Enhancers	Fetal Intestine Large	intestine
11	chr14:79933800-79939000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:79933800-79939400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:79933800-79942400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:79934000-79935200	Enhancers	Fetal Intestine Small	intestine
15	chr14:79934000-79938800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:79934000-79938800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:79934000-79939600	Weak transcription	Stomach Smooth Muscle	stomach

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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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