Variant report

Variant	rs8013985
Chromosome Location	chr14:69948858-69948859
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	PAX5	chr14:69948469-69948980	GM12878	blood:	n/a	chr14:69948750-69948759 chr14:69948536-69948554
3	ESR1	chr14:69948365-69948903	ECC-1	luminal epithelium:	n/a	n/a
4	RUNX3	chr14:69948510-69948997	GM12878	blood:	n/a	n/a
5	SPI1	chr14:69948540-69948974	GM12891	blood:	n/a	n/a
6	SPI1	chr14:69948482-69948981	GM12891	blood:	n/a	n/a
7	TCF12	chr14:69948170-69949377	ECC-1	luminal epithelium:	n/a	n/a
8	PAX5	chr14:69948421-69948952	GM12878	blood:	n/a	chr14:69948750-69948759 chr14:69948536-69948554
9	SPI1	chr14:69948556-69948960	GM12878	blood:	n/a	n/a
10	ESR1	chr14:69948321-69948899	ECC-1	luminal epithelium:	n/a	n/a
11	TCF3	chr14:69948522-69948905	GM12878	blood:	n/a	n/a
12	EP300	chr14:69948356-69949060	ECC-1	luminal epithelium:	n/a	chr14:69948745-69948759
13	NFIC	chr14:69948248-69949193	ECC-1	luminal epithelium:	n/a	n/a
14	PAX5	chr14:69948508-69948908	GM12878	blood:	n/a	chr14:69948750-69948759 chr14:69948536-69948554
15	MAX	chr14:69948442-69949083	ECC-1	luminal epithelium:	n/a	n/a
16	NFIC	chr14:69948291-69949033	ECC-1	luminal epithelium:	n/a	n/a
17	PAX5	chr14:69948515-69948945	GM12891	blood:	n/a	chr14:69948750-69948759 chr14:69948536-69948554
18	TCF12	chr14:69948592-69948928	GM12878	blood:	n/a	n/a
19	TCF12	chr14:69948219-69949145	ECC-1	luminal epithelium:	n/a	n/a
20	MAFF	chr14:69948749-69949281	K562	blood:	n/a	n/a
21	ESR1	chr14:69948434-69948920	ECC-1	luminal epithelium:	n/a	n/a
22	RUNX3	chr14:69948552-69948985	GM12878	blood:	n/a	n/a
23	EP300	chr14:69948167-69949256	ECC-1	luminal epithelium:	n/a	chr14:69948745-69948759
24	ESR1	chr14:69948317-69948950	ECC-1	luminal epithelium:	n/a	n/a
25	TCF3	chr14:69948618-69948912	GM12878	blood:	n/a	n/a
26	SPI1	chr14:69948465-69949139	GM12878	blood:	n/a	n/a
27	NFYB	chr14:69948615-69949013	GM12878	blood:	n/a	n/a
28	TCF12	chr14:69948573-69948931	GM12878	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: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2232057	0.90[TSI][hapmap];0.81[AMR][1000 genomes]
rs2232058	0.90[TSI][hapmap];0.81[AMR][1000 genomes]
rs2296721	0.81[AMR][1000 genomes]
rs6573887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140358	0.90[TSI][hapmap]
rs7145903	0.81[AMR][1000 genomes]
rs7152886	0.90[TSI][hapmap]
rs7156420	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7158020	0.85[AMR][1000 genomes]
rs7158775	0.80[ASN][1000 genomes]
rs7160157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7276	0.90[TSI][hapmap]
rs8003906	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007612	0.87[TSI][hapmap]
rs8013221	0.90[TSI][hapmap];0.81[AMR][1000 genomes]
rs8014284	0.81[AMR][1000 genomes]
rs8016546	0.82[TSI][hapmap]
rs8021143	0.81[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:16 , 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	chr14:69948600-69949000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
6	chr14:69948600-69949000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr14:69948600-69949000	ZNF genes & repeats	Lung	lung
8	chr14:69948600-69949200	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:69948600-69949400	Enhancers	Psoas Muscle	Psoas
10	chr14:69948600-69949400	Enhancers	K562	blood
11	chr14:69948600-69950000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:69948600-69950400	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr14:69948800-69949000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr14:69948800-69949000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
15	chr14:69948800-69949000	Enhancers	Esophagus	oesophagus
16	chr14:69948800-69949200	Flanking Active TSS	GM12878-XiMat	blood

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