Variant report

Variant	rs9847444
Chromosome Location	chr3:24053364-24053365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17014085	0.83[EUR][1000 genomes]
rs2221826	0.81[EUR][1000 genomes]
rs4241517	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs4858576	0.83[EUR][1000 genomes]
rs60056719	0.83[EUR][1000 genomes]
rs62253420	0.81[EUR][1000 genomes]
rs6550828	0.85[TSI][hapmap]
rs6550829	0.87[TSI][hapmap]
rs6550833	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9842907	1.00[YRI][hapmap]
rs9864762	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834638	chr3:23963860-24117191	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv834639	chr3:24037113-24233925	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv536523	chr3:24041166-24076110	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9847444	LAMB1	trans	lymphoblastoid	seeQTL
rs9847444	BMP2K	trans	lymphoblastoid	seeQTL
rs9847444	CLEC2B	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24036000-24053400	Weak transcription	Psoas Muscle	Psoas
2	chr3:24046400-24060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:24051800-24055000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:24051800-24055000	Enhancers	NHEK	skin
5	chr3:24052600-24053600	Flanking Active TSS	Hela-S3	cervix
6	chr3:24052800-24053600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:24052800-24053600	Enhancers	Placenta	Placenta
8	chr3:24052800-24053600	Enhancers	A549	lung
9	chr3:24053000-24053400	Enhancers	NHDF-Ad	bronchial
10	chr3:24053000-24053600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:24053000-24053600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:24053200-24053400	Enhancers	HMEC	breast

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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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