Variant report

Variant	rs33029
Chromosome Location	chr5:14179404-14179405
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	POLR2A	chr5:14177078-14179467	U87	brain:	n/a	n/a
2	TCF12	chr5:14178453-14179454	SK-N-SH	brain:	n/a	chr5:14179239-14179249
3	EP300	chr5:14178477-14179427	SK-N-SH	brain:	n/a	chr5:14179075-14179091
4	POLR2A	chr5:14178059-14179476	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr5:14178391-14179548	U87	brain:	n/a	n/a
6	POLR2A	chr5:14177072-14179473	U87	brain:	n/a	n/a
7	MXI1	chr5:14178088-14179907	IMR90	lung:	n/a	n/a
8	GATA3	chr5:14178121-14179422	A549	lung:	n/a	chr5:14178862-14178871

No.	Distal block	Cell Line	Cell type
1	chr5:14176923..14179557-chr5:14181390..14183679,4	MCF-7	breast:
2	chr5:14179287..14181889-chr5:14185448..14187309,2	MCF-7	breast:
3	chr5:14175254..14177607-chr5:14178876..14181098,2	MCF-7	breast:
4	chr5:14175441..14177437-chr5:14177800..14180051,2	MCF-7	breast:

Variant related genes	Relation type
TRIO	TF binding region

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs152781	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs245513	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2463803	0.82[CEU][hapmap]
rs26290	1.00[CEU][hapmap];0.93[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26292	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27367	1.00[CEU][hapmap];0.94[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27632	1.00[CEU][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27666	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs32977	1.00[CEU][hapmap]
rs32978	1.00[CEU][hapmap]
rs32979	1.00[CEU][hapmap]
rs33028	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33030	1.00[CEU][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs348113	1.00[CEU][hapmap]
rs348116	1.00[CEU][hapmap]
rs40298	1.00[CEU][hapmap]
rs42289	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62344640	0.97[EUR][1000 genomes]
rs62346562	0.94[EUR][1000 genomes]
rs696289	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs696290	0.83[AMR][1000 genomes];0.88[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	chr5:14174800-14181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:14174800-14181400	Weak transcription	Thymus	Thymus
9	chr5:14174800-14184000	Weak transcription	Fetal Kidney	kidney
10	chr5:14175000-14181400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr5:14175000-14184000	Weak transcription	Stomach Mucosa	stomach
12	chr5:14175000-14191600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:14175200-14186400	Weak transcription	Primary B cells from cord blood	blood
14	chr5:14175600-14181000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:14175800-14181800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:14176000-14180000	Enhancers	Liver	Liver
17	chr5:14176600-14179800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr5:14176600-14182800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:14177000-14180600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:14177200-14179800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:14177200-14180000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr5:14177200-14180000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:14177200-14180000	Enhancers	Rectal Smooth Muscle	rectum
24	chr5:14177200-14180200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:14177200-14180200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr5:14177200-14189400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:14177400-14179800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr5:14177400-14179800	Enhancers	Ovary	ovary
29	chr5:14177400-14180000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:14177400-14180800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:14177400-14181800	Enhancers	NHEK	skin
32	chr5:14177400-14191800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:14177600-14180000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:14177600-14180000	Enhancers	Fetal Brain Male	brain
35	chr5:14177600-14180000	Enhancers	Right Atrium	heart
36	chr5:14177600-14180000	Enhancers	Stomach Smooth Muscle	stomach
37	chr5:14177600-14180200	Enhancers	Hela-S3	cervix
38	chr5:14177800-14180000	Enhancers	Fetal Muscle Leg	muscle
39	chr5:14177800-14180000	Enhancers	HSMMtube	muscle
40	chr5:14177800-14183000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr5:14178000-14184400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:14178200-14179800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr5:14178200-14180000	Enhancers	Adipose Nuclei	Adipose
44	chr5:14178200-14180000	Enhancers	Fetal Intestine Large	intestine
45	chr5:14178400-14179800	Enhancers	Small Intestine	intestine
46	chr5:14178400-14182000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:14178600-14179800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr5:14178600-14183000	Weak transcription	Gastric	stomach
49	chr5:14178600-14183800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:14178600-14187000	Enhancers	Left Ventricle	heart

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