Variant report

Variant	rs11553526
Chromosome Location	chr14:24781178-24781179
allele	A/C
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	GTF2F1	chr14:24780779-24781317	Hela-S3	cervix:	n/a	n/a
2	MYC	chr14:24781041-24781397	MCF10A-Er-Src	breast:	n/a	chr14:24781178-24781188
3	USF2	chr14:24781060-24781252	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:24778201-24781400	GM12892	blood:	n/a	n/a
5	POLR2A	chr14:24779842-24781271	GM12891	blood:	n/a	n/a
6	POLR2A	chr14:24781098-24781284	K562	blood:	n/a	n/a
7	CEBPB	chr14:24781034-24781401	HepG2	liver:	n/a	chr14:24781217-24781228
8	POLR2A	chr14:24780956-24781352	HepG2	liver:	n/a	n/a
9	CTCF	chr14:24781160-24781310	GM12872	blood:	n/a	chr14:24781266-24781275
10	CTCF	chr14:24781140-24781290	NHEK	skin:	n/a	chr14:24781266-24781275
11	POLR2A	chr14:24780049-24781568	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr14:24781160-24781310	HMF	breast:	n/a	chr14:24781266-24781275
13	POLR2A	chr14:24780885-24782758	HepG2	liver:	n/a	n/a
14	STAT3	chr14:24781054-24781352	MCF10A-Er-Src	breast:	n/a	n/a
15	CEBPB	chr14:24781010-24781410	Hela-S3	cervix:	n/a	chr14:24781217-24781228
16	CTCF	chr14:24781160-24781310	HEEpiC	esophagus:	n/a	chr14:24781266-24781275
17	FOS	chr14:24781087-24781362	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr14:24778985-24781506	GM12891	blood:	n/a	n/a
19	CEBPB	chr14:24781068-24781394	A549	lung:	n/a	chr14:24781217-24781228
20	EP300	chr14:24781108-24781337	Hela-S3	cervix:	n/a	chr14:24781214-24781228
21	CTCF	chr14:24781140-24781290	GM12875	blood:	n/a	chr14:24781266-24781275
22	POLR2A	chr14:24781111-24782588	A549	lung:	n/a	n/a
23	POLR2A	chr14:24780967-24781503	HL-60	blood:	n/a	n/a
24	E2F4	chr14:24781151-24781284	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr14:24779256-24781544	GM12891	blood:	n/a	n/a
26	POLR2A	chr14:24779538-24781427	Hela-S3	cervix:	n/a	n/a
27	MYC	chr14:24781042-24781384	NB4	blood:	n/a	chr14:24781178-24781188
28	STAT3	chr14:24781077-24781365	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr14:24778585-24781440	GM12892	blood:	n/a	n/a
30	YY1	chr14:24781090-24781340	GM12891	blood:	n/a	n/a
31	STAT3	chr14:24781124-24781359	MCF10A-Er-Src	breast:	n/a	n/a
32	EBF1	chr14:24781094-24781388	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:24780997-24781383	GM12878	blood:	n/a	n/a
34	FOS	chr14:24781055-24781413	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr14:24781010-24781982	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:24779460-24781524	HL-60	blood:	n/a	n/a
37	MAX	chr14:24781070-24781293	Hela-S3	cervix:	n/a	chr14:24781178-24781188
38	MAX	chr14:24781084-24781325	NB4	blood:	n/a	chr14:24781178-24781188
39	BRCA1	chr14:24781168-24781368	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr14:24778328-24781399	GM12878	blood:	n/a	n/a
41	CEBPB	chr14:24781109-24781339	K562	blood:	n/a	chr14:24781217-24781228
42	FOS	chr14:24781080-24781373	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr14:24779951-24781190	NB4	blood:	n/a	n/a
44	FOS	chr14:24781107-24781353	MCF10A-Er-Src	breast:	n/a	n/a
45	CTCF	chr14:24781060-24781210	AG10803	skin:	n/a	n/a
46	POLR2A	chr14:24779903-24781269	Hela-S3	cervix:	n/a	n/a
47	MYC	chr14:24781008-24781380	MCF10A-Er-Src	breast:	n/a	chr14:24781178-24781188
48	CTCF	chr14:24781160-24781310	RPTEC	kidney:	n/a	chr14:24781266-24781275
49	CEBPB	chr14:24781071-24781464	MCF-7	breast:	n/a	chr14:24781217-24781228
50	POLR2A	chr14:24781147-24781325	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24779448..24783163-chr14:24897934..24900807,3	MCF-7	breast:
2	chr14:24769018..24771644-chr14:24778129..24781269,3	K562	blood:
3	chr14:24767097..24775014-chr14:24779936..24787049,14	MCF-7	breast:
4	chr14:24774171..24777503-chr14:24780795..24784046,4	K562	blood:
5	chr14:24778484..24781723-chr14:24903121..24905574,3	MCF-7	breast:

Variant related genes	Relation type
LTB4R	TF binding region
CIDEB	TF binding region
ENSG00000136305	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000100441	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17102177	1.00[MEX][hapmap]
rs2295317	1.00[LWK][hapmap]

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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
5	nsv564058	chr14:24771285-24786976	Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
6	nsv901501	chr14:24771285-24793762	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
7	nsv564059	chr14:24776401-24796813	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24770400-24782000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:24770600-24781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:24770600-24781800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:24775600-24785800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:24775800-24782200	Weak transcription	HSMMtube	muscle
6	chr14:24775800-24784000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:24776000-24783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:24776200-24786200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:24776400-24785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:24777200-24782400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:24777400-24781200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:24777400-24781400	Enhancers	Stomach Mucosa	stomach
13	chr14:24777600-24781400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:24777800-24782000	Weak transcription	K562	blood
15	chr14:24777800-24783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:24778400-24782600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr14:24778600-24785200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr14:24778800-24781200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:24778800-24781200	Flanking Active TSS	NHEK	skin
20	chr14:24778800-24781400	Flanking Active TSS	Liver	Liver
21	chr14:24778800-24781400	Enhancers	Fetal Heart	heart
22	chr14:24779000-24781200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr14:24779000-24781400	Flanking Active TSS	Esophagus	oesophagus
24	chr14:24779000-24781600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:24779000-24784000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:24779200-24781400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:24779200-24781400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr14:24779200-24782400	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr14:24779200-24785000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr14:24779400-24781200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr14:24779400-24781400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:24779400-24781400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:24779400-24781600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr14:24779400-24781600	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr14:24779400-24781800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr14:24779400-24782400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr14:24779600-24781200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:24779600-24781200	Active TSS	Hela-S3	cervix
39	chr14:24779600-24781400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr14:24779600-24781400	Flanking Active TSS	GM12878-XiMat	blood
41	chr14:24779600-24785400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:24780000-24781200	Active TSS	Brain Angular Gyrus	brain
43	chr14:24780000-24781200	Active TSS	Brain Anterior Caudate	brain
44	chr14:24780000-24781200	Active TSS	Rectal Smooth Muscle	rectum
45	chr14:24780000-24781200	Flanking Active TSS	HUVEC	blood vessel
46	chr14:24780000-24782000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr14:24780000-24783200	Weak transcription	Small Intestine	intestine
48	chr14:24780000-24783600	Weak transcription	HepG2	liver
49	chr14:24780200-24781200	Active TSS	Brain Hippocampus Middle	brain
50	chr14:24780200-24781600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin

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