Variant report

Variant	rs12049941
Chromosome Location	chr12:29299016-29299017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10843330	0.81[CHB][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes]
rs10843331	0.89[EUR][1000 genomes]
rs10843332	0.89[EUR][1000 genomes]
rs10843333	1.00[ASW][hapmap];0.85[CEU][hapmap];0.81[CHB][hapmap];0.85[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10843334	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11050035	0.83[EUR][1000 genomes]
rs11050039	0.83[EUR][1000 genomes]
rs11050040	0.83[EUR][1000 genomes]
rs11050046	0.85[EUR][1000 genomes]
rs11050076	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050077	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050078	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12228075	0.83[EUR][1000 genomes]
rs12306316	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1390536	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1390537	0.89[EUR][1000 genomes]
rs1587186	0.85[EUR][1000 genomes]
rs34844277	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73071989	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29298200-29299400	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr12:29298400-29299600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr12:29298400-29299600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:29298600-29299400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:29298600-29300600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:29298600-29301000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:29298800-29299600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:29298800-29300000	Enhancers	Primary hematopoietic stem cells	blood
9	chr12:29299000-29299200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr12:29299000-29299600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:29299000-29300600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:29299000-29301200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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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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