Variant report

Variant	rs11945031
Chromosome Location	chr4:148515501-148515502
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:16)

rs_ID	r²[population]
rs10006729	0.86[ASN][1000 genomes]
rs10028794	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11099659	0.86[ASN][1000 genomes]
rs11099660	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11732778	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4835089	0.85[ASN][1000 genomes]
rs4835426	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4835427	0.80[ASN][1000 genomes]
rs4835428	0.82[ASN][1000 genomes]
rs6816928	0.83[ASN][1000 genomes]
rs6824051	0.86[ASN][1000 genomes]
rs6841995	0.84[ASN][1000 genomes]
rs6852226	0.86[ASN][1000 genomes]
rs6855339	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6857300	0.86[ASN][1000 genomes]
rs6857532	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148510200-148520800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:148512000-148517800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:148512400-148517800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:148512600-148518000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:148512600-148518000	Weak transcription	NHLF	lung
6	chr4:148512600-148518200	Weak transcription	Stomach Mucosa	stomach
7	chr4:148512800-148518000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:148515400-148515600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:148515400-148515800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:148515400-148515800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:148515400-148516000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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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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