Variant report

Variant	rs27666
Chromosome Location	chr5:14182049-14182050
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	MAX	chr5:14181676-14182069	H1-hESC	embryonic stem cell:	n/a	chr5:14181692-14181701 chr5:14181693-14181700 chr5:14181910-14181920
2	POLR2A	chr5:14181484-14182364	U87	brain:	n/a	n/a
3	POLR2A	chr5:14181316-14182639	PANC-1	pancreas:	n/a	n/a
4	ZNF263	chr5:14181565-14185155	HEK293-T-REx	kidney:	n/a	chr5:14183654-14183663
5	POLR2A	chr5:14181990-14182723	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr5:14181412-14182354	U87	brain:	n/a	n/a
7	RFX5	chr5:14181117-14182340	SK-N-SH	brain:	n/a	n/a
8	EP300	chr5:14181094-14182113	SK-N-SH	brain:	n/a	chr5:14181372-14181381 chr5:14181888-14181902
9	MXI1	chr5:14181334-14182242	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14142296..14145562-chr5:14179804..14183456,3	MCF-7	breast:
2	chr5:14173022..14175208-chr5:14181474..14183850,2	MCF-7	breast:
3	chr5:14147688..14150262-chr5:14179544..14182482,2	MCF-7	breast:
4	chr5:14176923..14179557-chr5:14181390..14183679,4	MCF-7	breast:

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs152781	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs245513	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2463803	0.82[CEU][hapmap]
rs26290	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26292	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27367	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27632	1.00[CEU][hapmap];0.89[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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33029	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33030	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs348113	1.00[CEU][hapmap]
rs348116	1.00[CEU][hapmap]
rs40298	1.00[CEU][hapmap]
rs42289	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62344640	0.97[EUR][1000 genomes]
rs62346562	0.94[EUR][1000 genomes]
rs696289	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs696290	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	esv1792551	chr5:14180257-14202590	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 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	chr5:14174400-14183400	Weak transcription	Fetal Lung	lung
2	chr5:14174400-14184400	Weak transcription	Colonic Mucosa	Colon
3	chr5:14174600-14183000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:14174800-14184000	Weak transcription	Fetal Kidney	kidney
5	chr5:14175000-14184000	Weak transcription	Stomach Mucosa	stomach
6	chr5:14175000-14191600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:14175200-14186400	Weak transcription	Primary B cells from cord blood	blood
8	chr5:14176600-14182800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:14177200-14189400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:14177400-14191800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:14177800-14183000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:14178000-14184400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:14178600-14183000	Weak transcription	Gastric	stomach
14	chr5:14178600-14183800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:14178600-14187000	Enhancers	Left Ventricle	heart
16	chr5:14178800-14182400	Weak transcription	Brain Anterior Caudate	brain
17	chr5:14178800-14183000	Weak transcription	Brain Substantia Nigra	brain
18	chr5:14178800-14183400	Enhancers	NHDF-Ad	bronchial
19	chr5:14178800-14184000	Enhancers	NH-A	brain
20	chr5:14179000-14183000	Weak transcription	Spleen	Spleen
21	chr5:14179000-14184800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:14179200-14182200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:14179200-14183000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:14179200-14183000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:14179200-14183000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:14179200-14183400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:14179200-14183800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:14179200-14185400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr5:14179200-14189800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:14179400-14183000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:14179400-14183000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:14179800-14182800	Weak transcription	Fetal Stomach	stomach
33	chr5:14179800-14183000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr5:14179800-14183000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:14179800-14183800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:14179800-14183800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr5:14180000-14182800	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:14180000-14182800	Enhancers	A549	lung
39	chr5:14180000-14183000	Weak transcription	Liver	Liver
40	chr5:14180000-14183000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:14180000-14183000	Weak transcription	Fetal Intestine Large	intestine
42	chr5:14180000-14183000	Weak transcription	Right Atrium	heart
43	chr5:14180000-14183200	Weak transcription	HSMMtube	muscle
44	chr5:14180000-14183800	Weak transcription	Pancreas	Pancrea
45	chr5:14180200-14183000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr5:14180400-14184400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:14180600-14185800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:14180800-14182400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:14180800-14182600	Enhancers	Fetal Brain Male	brain
50	chr5:14180800-14183400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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