Variant report

Variant	rs2349971
Chromosome Location	chr12:29298853-29298854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr12:29298827-29298981	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
FAR2	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10734770	0.89[EUR][1000 genomes]
rs10743643	0.91[EUR][1000 genomes]
rs11050084	1.00[JPT][hapmap]
rs1121577	0.80[EUR][1000 genomes]
rs11502454	1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12302010	0.82[EUR][1000 genomes]
rs12302231	0.81[EUR][1000 genomes]
rs12304386	0.82[EUR][1000 genomes]
rs12305429	1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12309591	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12311115	0.85[EUR][1000 genomes]
rs12320204	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12366549	1.00[ASN][1000 genomes]
rs1353460	0.91[EUR][1000 genomes]
rs1390542	0.91[EUR][1000 genomes]
rs1496221	0.91[EUR][1000 genomes]
rs1561131	1.00[JPT][hapmap]
rs1561132	1.00[JPT][hapmap]
rs17449204	0.81[EUR][1000 genomes]
rs17449238	0.81[EUR][1000 genomes]
rs1865763	0.91[EUR][1000 genomes]
rs1865764	0.89[EUR][1000 genomes]
rs2164493	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2196479	0.89[EUR][1000 genomes]
rs28544897	0.85[EUR][1000 genomes]
rs3940535	0.91[EUR][1000 genomes]
rs4930849	0.89[EUR][1000 genomes]
rs4930856	1.00[JPT][hapmap]
rs4931154	0.91[EUR][1000 genomes]
rs59113616	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60329521	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6487757	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6487764	0.84[EUR][1000 genomes]
rs66487137	0.82[EUR][1000 genomes]
rs66712682	0.82[EUR][1000 genomes]
rs67060812	0.82[EUR][1000 genomes]
rs67087836	0.82[EUR][1000 genomes]
rs67287552	0.82[EUR][1000 genomes]
rs67563394	0.82[EUR][1000 genomes]
rs67760969	0.85[EUR][1000 genomes]
rs71453727	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs716704	0.89[EUR][1000 genomes]
rs7304088	0.89[EUR][1000 genomes]
rs73061737	0.82[EUR][1000 genomes]
rs73061745	0.82[EUR][1000 genomes]
rs7315912	0.89[EUR][1000 genomes]
rs7316030	0.91[EUR][1000 genomes]
rs73254758	0.88[EUR][1000 genomes]
rs73254786	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73268857	0.81[EUR][1000 genomes]
rs73268858	0.81[EUR][1000 genomes]
rs73273123	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7964313	0.91[EUR][1000 genomes]
rs7966290	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7966398	1.00[CEU][hapmap]

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:9 , 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	chr12:29298400-29299000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:29298400-29299600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:29298400-29299600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:29298600-29299400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:29298600-29300600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:29298600-29301000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:29298800-29299600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:29298800-29300000	Enhancers	Primary hematopoietic stem cells	blood

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