Variant report

Variant	rs17179539
Chromosome Location	chr14:72561091-72561092
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:9)

rs_ID	r²[population]
rs11158948	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17179644	0.85[AFR][1000 genomes]
rs2023376	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2238262	0.90[EUR][1000 genomes]
rs2238263	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs2239263	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs4902986	0.81[CEU][hapmap]
rs61994828	0.85[AFR][1000 genomes]
rs61994830	0.85[AFR][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72556800-72563400	Weak transcription	Left Ventricle	heart
2	chr14:72556800-72563400	Weak transcription	Right Atrium	heart
3	chr14:72558400-72563600	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:72560200-72562200	Enhancers	Brain Germinal Matrix	brain
5	chr14:72560400-72561400	Weak transcription	Fetal Brain Female	brain
6	chr14:72560600-72566600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:72560800-72562200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:72561000-72561200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:72561000-72561600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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