Variant report

Variant	rs7976184
Chromosome Location	chr12:29299983-29299984
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11830434	0.82[EUR][1000 genomes]
rs1498795	0.82[AMR][1000 genomes]
rs1960925	0.93[AMR][1000 genomes]
rs2082944	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56014476	0.96[AMR][1000 genomes]
rs56209813	1.00[AFR][1000 genomes]
rs57776139	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58373348	0.96[AMR][1000 genomes]
rs59190473	0.96[AMR][1000 genomes]
rs7295808	0.96[AMR][1000 genomes]
rs7301103	0.96[AMR][1000 genomes]
rs7310637	0.96[AMR][1000 genomes]
rs74076486	0.82[AMR][1000 genomes]
rs74076737	0.94[AMR][1000 genomes]
rs74076740	0.96[AMR][1000 genomes]
rs7957091	0.93[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv819469	chr12:29285461-29303486	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3337951	chr12:29288734-29303032	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29298600-29300600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:29298600-29301000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:29298800-29300000	Enhancers	Primary hematopoietic stem cells	blood
4	chr12:29299000-29300600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:29299000-29301200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:29299200-29300800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:29299400-29300400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:29299400-29300600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:29299600-29300200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:29299600-29300600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:29299600-29301000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:29299600-29301200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:29299800-29300200	Weak transcription	Primary hematopoietic stem cells short term culture	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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