Variant report

Variant	rs164005
Chromosome Location	chr5:14179153-14179154
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	MAFK	chr5:14178589-14179286	GM12878	blood:	n/a	chr5:14178926-14178941 chr5:14178923-14178939 chr5:14178928-14178937 chr5:14178925-14178934 chr5:14178921-14178941 chr5:14178924-14178938 chr5:14178925-14178935 chr5:14178926-14178942
2	GATA3	chr5:14178486-14179326	SK-N-SH	brain:	n/a	chr5:14178862-14178871
3	JUND	chr5:14178722-14179161	H1-hESC	embryonic stem cell:	n/a	chr5:14178926-14178936 chr5:14178783-14178794
4	POLR2A	chr5:14177078-14179467	U87	brain:	n/a	n/a
5	NFIC	chr5:14178534-14179384	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr5:14178453-14179454	SK-N-SH	brain:	n/a	chr5:14179239-14179249
7	JUND	chr5:14178544-14179283	SK-N-SH	brain:	n/a	chr5:14178926-14178936 chr5:14178783-14178794
8	FOSL2	chr5:14178461-14179396	SK-N-SH	brain:	n/a	chr5:14178926-14178936 chr5:14178783-14178794
9	POLR2A	chr5:14177115-14179337	PANC-1	pancreas:	n/a	n/a
10	NFATC1	chr5:14178822-14179213	GM12878	blood:	n/a	n/a
11	PBX3	chr5:14178478-14179341	SK-N-SH	brain:	n/a	n/a
12	BCL3	chr5:14178693-14179198	GM12878	blood:	n/a	n/a
13	KAP1	chr5:14178466-14179153	U2OS	brain:	n/a	n/a
14	MAFK	chr5:14178624-14179208	H1-hESC	embryonic stem cell:	n/a	chr5:14178926-14178941 chr5:14178923-14178939 chr5:14178928-14178937 chr5:14178925-14178934 chr5:14178921-14178941 chr5:14178924-14178938 chr5:14178925-14178935 chr5:14178926-14178942
15	MAX	chr5:14178701-14179246	SK-N-SH	brain:	n/a	n/a
16	CEBPB	chr5:14178626-14179222	IMR90	lung:	n/a	n/a
17	FOSL2	chr5:14178500-14179178	A549	lung:	n/a	chr5:14178926-14178936 chr5:14178783-14178794
18	GATA3	chr5:14178362-14179358	SK-N-SH	brain:	n/a	chr5:14178862-14178871
19	EP300	chr5:14178477-14179427	SK-N-SH	brain:	n/a	chr5:14179075-14179091
20	POLR2A	chr5:14178565-14179238	SK-N-SH	brain:	n/a	n/a
21	FOS	chr5:14178547-14179186	MCF10A-Er-Src	breast:	n/a	chr5:14178926-14178936 chr5:14178783-14178794
22	PBX3	chr5:14178573-14179283	SK-N-SH	brain:	n/a	n/a
23	BACH1	chr5:14178734-14179219	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr5:14178059-14179476	PANC-1	pancreas:	n/a	n/a
25	EGR1	chr5:14178888-14179355	H1-hESC	embryonic stem cell:	n/a	chr5:14179146-14179156 chr5:14179146-14179155 chr5:14179145-14179158 chr5:14179145-14179158 chr5:14179144-14179159 chr5:14179145-14179158
26	SIN3AK20	chr5:14178808-14179245	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr5:14178391-14179548	U87	brain:	n/a	n/a
28	SIN3A	chr5:14178817-14179217	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr5:14177072-14179473	U87	brain:	n/a	n/a
30	MXI1	chr5:14178088-14179907	IMR90	lung:	n/a	n/a
31	MAX	chr5:14178268-14179261	A549	lung:	n/a	n/a
32	MAFK	chr5:14178495-14179269	IMR90	lung:	n/a	chr5:14178926-14178941 chr5:14178923-14178939 chr5:14178928-14178937 chr5:14178925-14178934 chr5:14178921-14178941 chr5:14178924-14178938 chr5:14178925-14178935 chr5:14178926-14178942
33	GATA3	chr5:14178121-14179422	A549	lung:	n/a	chr5:14178862-14178871
34	TCF12	chr5:14178446-14179313	SK-N-SH	brain:	n/a	chr5:14179239-14179249
35	MAX	chr5:14178631-14179219	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14176923..14179557-chr5:14181390..14183679,4	MCF-7	breast:
2	chr5:14175254..14177607-chr5:14178876..14181098,2	MCF-7	breast:
3	chr5:14143461..14145667-chr5:14177391..14179241,3	MCF-7	breast:
4	chr5:14175441..14177437-chr5:14177800..14180051,2	MCF-7	breast:

Variant related genes	Relation type
TRIO	TF binding region
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs26116	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs26117	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs26118	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs26130	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs26131	0.89[EUR][1000 genomes]
rs26132	0.83[EUR][1000 genomes]
rs32569	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs32570	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs512599	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432716	chr5:13779700-14184600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1019196	chr5:13790760-14187503	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1015479	chr5:13798819-14180804	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv2760949	chr5:13798819-14182550	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1017356	chr5:13798819-14182550	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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
7	nsv1018474	chr5:13798819-14184599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1024037	chr5:13798819-14185039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv1030787	chr5:13799381-14180804	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14164600-14181600	Weak transcription	Esophagus	oesophagus
2	chr5:14169200-14180400	Enhancers	HepG2	liver
3	chr5:14174400-14183400	Weak transcription	Fetal Lung	lung
4	chr5:14174400-14184400	Weak transcription	Colonic Mucosa	Colon
5	chr5:14174600-14179600	Weak transcription	Fetal Intestine Small	intestine
6	chr5:14174600-14183000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:14174800-14179200	Enhancers	GM12878-XiMat	blood
8	chr5:14174800-14181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:14174800-14181400	Weak transcription	Thymus	Thymus
10	chr5:14174800-14184000	Weak transcription	Fetal Kidney	kidney
11	chr5:14175000-14181400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:14175000-14184000	Weak transcription	Stomach Mucosa	stomach
13	chr5:14175000-14191600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:14175200-14186400	Weak transcription	Primary B cells from cord blood	blood
15	chr5:14175600-14181000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:14175800-14181800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:14176000-14180000	Enhancers	Liver	Liver
18	chr5:14176600-14179800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr5:14176600-14182800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:14177000-14180600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:14177200-14179200	Enhancers	Fetal Heart	heart
22	chr5:14177200-14179800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:14177200-14180000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr5:14177200-14180000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:14177200-14180000	Enhancers	Rectal Smooth Muscle	rectum
26	chr5:14177200-14180200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:14177200-14180200	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr5:14177200-14189400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:14177400-14179400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:14177400-14179800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr5:14177400-14179800	Enhancers	Ovary	ovary
32	chr5:14177400-14180000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:14177400-14180800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:14177400-14181800	Enhancers	NHEK	skin
35	chr5:14177400-14191800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:14177600-14179200	Enhancers	H9 Cell Line	embryonic stem cell
37	chr5:14177600-14179200	Enhancers	Brain Germinal Matrix	brain
38	chr5:14177600-14179200	Enhancers	Psoas Muscle	Psoas
39	chr5:14177600-14179400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:14177600-14179400	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr5:14177600-14180000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:14177600-14180000	Enhancers	Fetal Brain Male	brain
43	chr5:14177600-14180000	Enhancers	Right Atrium	heart
44	chr5:14177600-14180000	Enhancers	Stomach Smooth Muscle	stomach
45	chr5:14177600-14180200	Enhancers	Hela-S3	cervix
46	chr5:14177800-14179200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:14177800-14179200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:14177800-14179200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr5:14177800-14179200	Enhancers	Brain Angular Gyrus	brain
50	chr5:14177800-14179200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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