Variant report

Variant	rs2629477
Chromosome Location	chr1:175332628-175332629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs2629478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2859048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55668306	1.00[AMR][1000 genomes]
rs56113036	1.00[AMR][1000 genomes]
rs56293838	1.00[AMR][1000 genomes]
rs56363769	1.00[AMR][1000 genomes]
rs57419526	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58765882	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73036242	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126978	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126981	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126984	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126985	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126986	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs859397	1.00[AMR][1000 genomes]
rs859435	0.87[AFR][1000 genomes]
rs859445	0.87[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	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv831948	chr1:175229631-175407303	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175284200-175343000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:175288800-175343200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:175288800-175343200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:175319400-175340000	Weak transcription	Fetal Brain Female	brain
5	chr1:175321800-175336600	Weak transcription	Brain Germinal Matrix	brain
6	chr1:175329000-175335400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:175331000-175333200	Strong transcription	Brain Inferior Temporal Lobe	brain
8	chr1:175331400-175335000	Weak transcription	Placenta	Placenta
9	chr1:175331400-175343200	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:175331600-175332800	Enhancers	NHEK	skin
11	chr1:175331600-175333000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:175331600-175333000	Enhancers	HUVEC	blood vessel
13	chr1:175332200-175333600	Enhancers	GM12878-XiMat	blood
14	chr1:175332600-175336800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:175332600-175343000	Weak transcription	Brain Cingulate Gyrus	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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