Variant report

Variant	rs10916148
Chromosome Location	chr1:227629576-227629577
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10916150	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12128670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1390403	0.81[AMR][1000 genomes]
rs1495850	0.81[AMR][1000 genomes]
rs2814086	0.81[AMR][1000 genomes]
rs2819524	0.81[AMR][1000 genomes]
rs875284	0.87[AMR][1000 genomes];0.98[EUR][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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10916148	ZNF678	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227617600-227631200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:227625600-227629800	Weak transcription	Fetal Heart	heart
3	chr1:227625600-227631600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:227625600-227632000	Weak transcription	Fetal Kidney	kidney
5	chr1:227625800-227630600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:227627600-227630000	Enhancers	Right Atrium	heart
7	chr1:227628600-227630000	Enhancers	Left Ventricle	heart
8	chr1:227628800-227630000	Enhancers	Right Ventricle	heart
9	chr1:227628800-227631800	Weak transcription	Brain Anterior Caudate	brain
10	chr1:227629000-227631600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:227629000-227631800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:227629000-227632000	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:227629000-227635200	Weak transcription	HUVEC	blood vessel
14	chr1:227629200-227629600	Weak transcription	Brain Substantia Nigra	brain
15	chr1:227629200-227631600	Weak transcription	Adipose Derived Mesenchymal Stem Cell 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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