Variant report

Variant	rs12894724
Chromosome Location	chr14:36991229-36991230
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	SUZ12	chr14:36990826-36995085	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr14:36981170-36992861	NT2-D1	testis:	n/a	n/a
3	TCF12	chr14:36990961-36991280	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX9-3	chr14:36990849-36992221	ENSG00000253563.2

Variant related genes	Relation type
NKX2-1	TF binding region
ENSG00000257520	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10483472	1.00[CEU][hapmap]
rs12589521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12589522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12589672	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12895465	1.00[CEU][hapmap]
rs17176043	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2075578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34325207	0.90[EUR][1000 genomes]
rs35710229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36989400-36992600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr14:36989600-36991600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
3	chr14:36990000-36993200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:36990400-36991400	Bivalent Enhancer	Esophagus	oesophagus
5	chr14:36990400-36992400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:36990400-36992600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr14:36990400-36992600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
8	chr14:36990400-36992600	Enhancers	Pancreas	Pancrea
9	chr14:36990600-36991400	Bivalent Enhancer	Colon Smooth Muscle	Colon
10	chr14:36990600-36991600	Bivalent Enhancer	Brain Hippocampus Middle	brain
11	chr14:36990600-36991800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:36990600-36992200	Bivalent Enhancer	Adipose Nuclei	Adipose
13	chr14:36990800-36992600	Bivalent Enhancer	Liver	Liver
14	chr14:36991000-36991400	Bivalent Enhancer	Left Ventricle	heart
15	chr14:36991000-36991800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
16	chr14:36991000-36992000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:36991000-36992600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:36991000-36992600	Bivalent Enhancer	Brain Substantia Nigra	brain
19	chr14:36991000-36992800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr14:36991200-36991400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr14:36991200-36991400	Bivalent Enhancer	Colonic Mucosa	Colon
22	chr14:36991200-36991400	Bivalent/Poised TSS	Fetal Lung	lung
23	chr14:36991200-36991600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr14:36991200-36992600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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