Variant report

Variant	rs4075021
Chromosome Location	chr1:172063516-172063517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10158753	0.81[MEX][hapmap]
rs10752864	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911004	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12029864	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12760234	0.92[EUR][1000 genomes]
rs1555381	0.96[CEU][hapmap];0.95[GIH][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs2104037	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs2761183	0.93[ASN][1000 genomes]
rs2819525	0.91[EUR][1000 genomes]
rs2819526	0.86[EUR][1000 genomes]
rs2819527	0.96[CEU][hapmap];0.93[GIH][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs2819530	0.91[CHD][hapmap];0.81[GIH][hapmap];0.93[ASN][1000 genomes]
rs35665317	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4244192	0.94[CHD][hapmap];0.87[ASN][1000 genomes]
rs495590	0.88[CHD][hapmap]
rs6670207	0.85[EUR][1000 genomes]
rs6671218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6676154	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693520	0.94[ASN][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	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4075021	POU2F1	cis	parietal	SCAN
rs4075021	MPZL1	cis	parietal	SCAN
rs4075021	C1orf112	cis	cerebellum	SCAN
rs4075021	DNM3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172040600-172076600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:172046600-172076800	Weak transcription	Fetal Brain Female	brain
3	chr1:172048000-172083800	Weak transcription	Aorta	Aorta
4	chr1:172049400-172110800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:172052400-172091600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:172057800-172074000	Weak transcription	Fetal Lung	lung
7	chr1:172059600-172064800	Weak transcription	Fetal Stomach	stomach
8	chr1:172060800-172064200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr1:172061600-172063600	Weak transcription	Brain Substantia Nigra	brain
10	chr1:172062400-172068600	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:172062400-172074000	Weak transcription	Fetal Kidney	kidney
12	chr1:172062400-172109200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:172063200-172065200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	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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