Variant report

Variant	rs12147495
Chromosome Location	chr14:65318829-65318830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1012376	0.83[AFR][1000 genomes]
rs10498519	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11622962	0.83[AFR][1000 genomes]
rs11623597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11623705	0.86[JPT][hapmap]
rs17752452	0.85[JPT][hapmap]
rs28625548	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4902322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72726228	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72726259	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12147495	C14orf52	cis	multi-tissue	Pritchard
rs12147495	CHURC1	Cis_1M	lymphoblastoid	RTeQTL
rs12147495	CHURC1	cis	multi-tissue	Pritchard

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65314800-65319000	Weak transcription	Right Ventricle	heart
2	chr14:65315400-65324600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:65317400-65320000	Weak transcription	Psoas Muscle	Psoas
4	chr14:65318000-65319400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr14:65318200-65319000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:65318200-65321400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:65318400-65322400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:65318800-65319400	Enhancers	Right Atrium	heart
9	chr14:65318800-65320200	Enhancers	Fetal Heart	heart
10	chr14:65318800-65320400	Enhancers	Left Ventricle	heart
11	chr14:65318800-65320600	Enhancers	K562	blood

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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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