Variant report

Variant	rs56190430
Chromosome Location	chr1:166933816-166933817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16858144	0.81[EUR][1000 genomes]
rs16858259	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41269700	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55728917	0.88[AMR][1000 genomes]
rs55737217	0.81[EUR][1000 genomes]
rs55778013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56114212	0.82[AMR][1000 genomes]
rs56252399	0.90[EUR][1000 genomes]
rs57274627	0.90[EUR][1000 genomes]
rs59862115	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73026741	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73026777	0.82[AMR][1000 genomes]
rs73026798	0.88[AMR][1000 genomes]
rs73026802	0.88[AMR][1000 genomes]
rs73028838	0.88[AMR][1000 genomes]
rs74119526	0.82[AMR][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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166919400-166936400	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:166921600-166935800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:166926800-166934000	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:166927200-166934000	Weak transcription	GM12878-XiMat	blood
5	chr1:166927200-166937200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:166927400-166941600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:166927600-166940200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:166927800-166940000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:166932800-166937800	Weak transcription	Dnd41	blood
10	chr1:166933000-166937600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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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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