Variant report

Variant	rs10136340
Chromosome Location	chr14:70527933-70527934
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10136807	0.86[AFR][1000 genomes]
rs10136848	0.83[AFR][1000 genomes]
rs10138444	0.83[AFR][1000 genomes]
rs10138883	0.87[AFR][1000 genomes]
rs10146698	0.90[AFR][1000 genomes]
rs13379247	1.00[ASW][hapmap];0.94[LWK][hapmap];0.90[AFR][1000 genomes]
rs67051826	0.86[AFR][1000 genomes]
rs72729840	0.83[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	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10136340	PLEKHH1	cis	cerebellum	SCAN
rs10136340	ZFYVE26	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70512800-70535600	Weak transcription	Psoas Muscle	Psoas
2	chr14:70514600-70531200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:70526400-70549000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:70526800-70529400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:70527000-70534600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr14:70527600-70528000	Bivalent Enhancer	HepG2	liver
7	chr14:70527600-70528200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:70527600-70528200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:70527600-70528400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:70527600-70528400	Enhancers	HMEC	breast
11	chr14:70527600-70528400	Enhancers	NHEK	skin
12	chr14:70527600-70528600	Enhancers	Hela-S3	cervix
13	chr14:70527800-70528200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:70527800-70528200	Enhancers	HUES6 Cell Line	embryonic stem cell

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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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