Variant report

Variant	rs6511025
Chromosome Location	chr19:19361261-19361262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11878997	1.00[YRI][hapmap]
rs11879483	1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap]
rs11880881	1.00[MEX][hapmap]
rs73537459	0.86[AFR][1000 genomes]
rs73539433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73539469	1.00[AFR][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	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911304	chr19:19303802-19408164	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6511025	NEFH	trans	lymphoblastoid	seeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19346000-19363200	Strong transcription	Fetal Brain Female	brain
2	chr19:19346000-19367000	Weak transcription	Brain Anterior Caudate	brain
3	chr19:19347400-19367200	Weak transcription	Fetal Brain Male	brain
4	chr19:19354800-19362400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:19354800-19363400	Strong transcription	Brain Germinal Matrix	brain
6	chr19:19357400-19363000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:19358800-19362000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:19359200-19361600	Strong transcription	Brain Cingulate Gyrus	brain
9	chr19:19359400-19361600	Strong transcription	Brain Inferior Temporal Lobe	brain
10	chr19:19360400-19361600	Strong transcription	Brain Angular Gyrus	brain
11	chr19:19360400-19361600	Enhancers	HepG2	liver
12	chr19:19361000-19362600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr19:19361200-19361400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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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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