Variant report

Variant	rs67268304
Chromosome Location	chr14:36992627-36992628
allele	C/G
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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:36986593..36988111-chr14:36992508..36994903,2	MCF-7	breast:

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10047867	0.82[EUR][1000 genomes]
rs10047954	0.85[EUR][1000 genomes]
rs10129663	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10139411	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10145174	0.87[EUR][1000 genomes]
rs10148530	0.87[EUR][1000 genomes]
rs10150267	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10483473	0.87[EUR][1000 genomes]
rs1076810	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11624944	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11625806	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11628131	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11628208	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12884641	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17104686	0.87[EUR][1000 genomes]
rs1951165	0.83[EUR][1000 genomes]
rs1951166	0.83[EUR][1000 genomes]
rs1956967	0.90[ASN][1000 genomes]
rs35770599	0.83[EUR][1000 genomes]
rs4903224	0.81[EUR][1000 genomes]
rs7159131	0.83[EUR][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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36990000-36993200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:36991000-36992800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
3	chr14:36991600-36995000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr14:36992000-36992800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
5	chr14:36992600-36992800	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:36992600-36992800	Bivalent Enhancer	Colon Smooth Muscle	Colon
7	chr14:36992600-36993800	Weak transcription	Pancreas	Pancrea

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