Variant report

Variant	rs927285
Chromosome Location	chr14:36947968-36947969
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	SRF	chr14:36947901-36948388	HCT-116	colon:	n/a	chr14:36948163-36948180 chr14:36948166-36948183 chr14:36948170-36948181 chr14:36948170-36948184 chr14:36948168-36948179 chr14:36948169-36948186 chr14:36948167-36948182 chr14:36948165-36948179 chr14:36948168-36948181 chr14:36948169-36948183 chr14:36948166-36948184 chr14:36948168-36948181 chr14:36948169-36948180 chr14:36948170-36948179
2	CTCF	chr14:36947940-36948170	GM06990	blood:	n/a	n/a
3	BATF	chr14:36947950-36948249	GM12878	blood:	n/a	chr14:36948069-36948079 chr14:36948068-36948079
4	JUND	chr14:36947928-36948294	HCT-116	colon:	n/a	chr14:36948072-36948080 chr14:36948072-36948080 chr14:36948072-36948079 chr14:36948071-36948081
5	FOS	chr14:36947916-36948440	MCF10A-Er-Src	breast:	n/a	chr14:36948072-36948080 chr14:36948072-36948080 chr14:36948072-36948079 chr14:36948071-36948081
6	FOS	chr14:36947907-36948282	MCF10A-Er-Src	breast:	n/a	chr14:36948072-36948080 chr14:36948072-36948080 chr14:36948072-36948079 chr14:36948071-36948081
7	STAT3	chr14:36947943-36948333	MCF10A-Er-Src	breast:	n/a	n/a
8	RUNX3	chr14:36947886-36948317	GM12878	blood:	n/a	n/a
9	BATF	chr14:36947908-36948298	GM12878	blood:	n/a	chr14:36948069-36948079 chr14:36948068-36948079
10	FOS	chr14:36947898-36948424	MCF10A-Er-Src	breast:	n/a	chr14:36948072-36948080 chr14:36948072-36948080 chr14:36948072-36948079 chr14:36948071-36948081
11	SRF	chr14:36947874-36948505	HCT-116	colon:	n/a	chr14:36948163-36948180 chr14:36948166-36948183 chr14:36948170-36948181 chr14:36948170-36948184 chr14:36948168-36948179 chr14:36948169-36948186 chr14:36948167-36948182 chr14:36948165-36948179 chr14:36948168-36948181 chr14:36948169-36948183 chr14:36948166-36948184 chr14:36948168-36948181 chr14:36948169-36948180 chr14:36948170-36948179
12	RUNX3	chr14:36947952-36948271	GM12878	blood:	n/a	n/a
13	STAT3	chr14:36947957-36948353	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
SFTA3	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1012913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1012914	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1033740	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs10483474	1.00[CHB][hapmap]
rs1535340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs17104778	1.00[CHB][hapmap]
rs17104780	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17104802	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17104962	1.00[MEX][hapmap]
rs177322	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2057328	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2057329	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902414	1.00[ASN][1000 genomes]
rs4902454	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155650	1.00[ASN][1000 genomes]
rs7156044	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7156102	1.00[ASN][1000 genomes]
rs8004831	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs8016238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[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	nsv832771	chr14:36771007-36964041	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36943200-36951400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:36946200-36948000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:36946800-36948800	Enhancers	NHEK	skin
4	chr14:36947000-36951600	Weak transcription	Lung	lung
5	chr14:36947800-36948000	Enhancers	HMEC	breast
6	chr14:36947800-36948600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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