Variant report

Variant	rs4421091
Chromosome Location	chr5:147348988-147348989
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10065132	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs1345689	1.00[ASN][1000 genomes]
rs1363526	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363530	1.00[ASN][1000 genomes]
rs1422587	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1422588	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1422590	0.85[AFR][1000 genomes]
rs2080962	0.90[EUR][1000 genomes]
rs2080963	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098648	0.84[ASN][1000 genomes]
rs6867691	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952565	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4421091	ABLIM3	cis	cerebellum	SCAN
rs4421091	ANXA6	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147336400-147352800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:147336600-147352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:147343800-147352800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:147344000-147350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:147344400-147351800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:147344400-147363000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:147345200-147352000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:147345400-147352800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:147345600-147353200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:147346400-147360400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr5:147348200-147349200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:147348800-147349600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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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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