Variant report

Variant	rs74061831
Chromosome Location	chr14:69949086-69949087
allele	A/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	IKZF1	chr14:69948501-69949184	GM12878	blood:	n/a	n/a
2	TCF12	chr14:69948170-69949377	ECC-1	luminal epithelium:	n/a	n/a
3	TAL1	chr14:69949004-69949090	K562	blood:	n/a	n/a
4	POLR2A	chr14:69949080-69949442	ECC-1	luminal epithelium:	n/a	n/a
5	MAFK	chr14:69948960-69949228	HepG2	liver:	n/a	chr14:69949091-69949106
6	MAFK	chr14:69948911-69949283	K562	blood:	n/a	chr14:69949091-69949106
7	NFIC	chr14:69948248-69949193	ECC-1	luminal epithelium:	n/a	n/a
8	MAFK	chr14:69948987-69949187	Hela-S3	cervix:	n/a	chr14:69949091-69949106
9	MAFK	chr14:69948911-69949281	IMR90	lung:	n/a	chr14:69949091-69949106
10	BACH1	chr14:69948920-69949253	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF12	chr14:69948219-69949145	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr14:69948960-69949110	GM12875	blood:	n/a	n/a
13	MAFF	chr14:69948749-69949281	K562	blood:	n/a	n/a
14	MAFK	chr14:69949041-69949190	HepG2	liver:	n/a	chr14:69949091-69949106
15	MAFK	chr14:69948916-69949259	H1-hESC	embryonic stem cell:	n/a	chr14:69949091-69949106
16	EP300	chr14:69948167-69949256	ECC-1	luminal epithelium:	n/a	chr14:69948745-69948759
17	BACH1	chr14:69948935-69949141	K562	blood:	n/a	n/a
18	SPI1	chr14:69948465-69949139	GM12878	blood:	n/a	n/a
19	CTCF	chr14:69948960-69949110	GM12864	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69862767..69865090-chr14:69948473..69950881,2	MCF-7	breast:
2	chr14:69946123..69947705-chr14:69948349..69951147,2	MCF-7	breast:
3	chr14:69947861..69950985-chr14:69958572..69961159,3	MCF-7	breast:
4	chr14:69947992..69950774-chr14:69962839..69965833,3	K562	blood:
5	chr14:69947992..69950774-chr14:69962839..69965276,2	K562	blood:

Variant related genes	Relation type
PLEKHD1	TF binding region
ENSG00000029364	Chromatin interaction
ENSG00000100632	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs55870632	1.00[AMR][1000 genomes]
rs56002959	1.00[AMR][1000 genomes]
rs56051240	1.00[AMR][1000 genomes]
rs56808476	1.00[AMR][1000 genomes]
rs57194889	1.00[AMR][1000 genomes]
rs58140746	1.00[AMR][1000 genomes]
rs58583730	1.00[AMR][1000 genomes]
rs60085780	1.00[AMR][1000 genomes]
rs60493601	1.00[AMR][1000 genomes]
rs60876803	1.00[AMR][1000 genomes]
rs7148016	1.00[AMR][1000 genomes]
rs74060204	1.00[AMR][1000 genomes]
rs74060205	1.00[AMR][1000 genomes]
rs74060219	1.00[AMR][1000 genomes]
rs74060234	1.00[AMR][1000 genomes]
rs74060237	1.00[AMR][1000 genomes]
rs74060267	1.00[AMR][1000 genomes]
rs74060270	1.00[AMR][1000 genomes]
rs74061848	1.00[AMR][1000 genomes]
rs74061849	1.00[AMR][1000 genomes]
rs74061850	1.00[AMR][1000 genomes]
rs74061851	1.00[AMR][1000 genomes]
rs74061853	1.00[AMR][1000 genomes]
rs74061856	1.00[AMR][1000 genomes]
rs74061857	1.00[AMR][1000 genomes]
rs74061864	1.00[AMR][1000 genomes]
rs8014375	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3396933	chr14:69906914-70001258	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1048882	chr14:69920881-69976694	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052107	chr14:69922552-69969297	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1039230	chr14:69922552-69972002	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1039192	chr14:69922552-69976694	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv456335	chr14:69928307-69971598	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv564967	chr14:69928307-69971598	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1050258	chr14:69942127-69976694	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69923600-69950400	Weak transcription	Gastric	stomach
2	chr14:69928600-69950600	Weak transcription	Aorta	Aorta
3	chr14:69948000-69949400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
4	chr14:69948000-69950000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr14:69948600-69949200	Enhancers	Primary B cells from peripheral blood	blood
6	chr14:69948600-69949400	Enhancers	Psoas Muscle	Psoas
7	chr14:69948600-69949400	Enhancers	K562	blood
8	chr14:69948600-69950000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:69948600-69950400	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr14:69948800-69949200	Flanking Active TSS	GM12878-XiMat	blood
11	chr14:69949000-69949200	Bivalent Enhancer	Duodenum Mucosa	Duodenum

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