Variant report

Variant	rs26292
Chromosome Location	chr5:14186372-14186373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14172374..14175679-chr5:14185951..14189494,3	MCF-7	breast:
2	chr5:14179287..14181889-chr5:14185448..14187309,2	MCF-7	breast:
3	chr5:14184247..14187128-chr5:14363897..14366486,2	K562	blood:
4	chr5:14166623..14168657-chr5:14184854..14187549,2	MCF-7	breast:
5	chr5:14143292..14145490-chr5:14185700..14188808,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs152781	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs164109	0.81[YRI][hapmap]
rs245513	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2463803	0.82[CEU][hapmap]
rs26290	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27367	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27632	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs27666	1.00[CEU][hapmap];0.93[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[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33029	1.00[CEU][hapmap];0.94[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs33030	1.00[CEU][hapmap];0.81[YRI][hapmap];0.94[EUR][1000 genomes]
rs348113	1.00[CEU][hapmap]
rs348116	1.00[CEU][hapmap]
rs40298	1.00[CEU][hapmap]
rs42289	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62344640	0.97[EUR][1000 genomes]
rs62346562	0.94[EUR][1000 genomes]
rs696289	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs696290	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14175000-14191600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:14175200-14186400	Weak transcription	Primary B cells from cord blood	blood
3	chr5:14177200-14189400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:14177400-14191800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:14178600-14187000	Enhancers	Left Ventricle	heart
6	chr5:14179200-14189800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:14180800-14186800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:14181000-14187600	Enhancers	HUVEC	blood vessel
9	chr5:14181200-14189200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:14181400-14186400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:14181400-14187600	Enhancers	Fetal Muscle Leg	muscle
12	chr5:14181400-14188600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr5:14181400-14189800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:14181400-14191800	Enhancers	Fetal Heart	heart
15	chr5:14181600-14186400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:14181600-14189000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:14181800-14186600	Enhancers	Fetal Brain Female	brain
18	chr5:14182000-14190200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:14182200-14187200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:14182400-14187200	Enhancers	Brain Anterior Caudate	brain
21	chr5:14182800-14186600	Enhancers	Fetal Stomach	stomach
22	chr5:14182800-14187600	Enhancers	Brain Hippocampus Middle	brain
23	chr5:14182800-14188600	Enhancers	Adipose Nuclei	Adipose
24	chr5:14183000-14186600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr5:14183000-14186600	Enhancers	Placenta	Placenta
26	chr5:14183000-14186800	Enhancers	Brain Angular Gyrus	brain
27	chr5:14183000-14187000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr5:14183000-14187200	Enhancers	Psoas Muscle	Psoas
29	chr5:14183000-14187400	Enhancers	Right Atrium	heart
30	chr5:14183000-14187600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr5:14183000-14189200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:14183200-14186800	Enhancers	Brain Germinal Matrix	brain
33	chr5:14183200-14187000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:14183400-14186400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:14183400-14186400	Weak transcription	Brain Substantia Nigra	brain
36	chr5:14183400-14186800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:14183600-14193000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:14183800-14186800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr5:14183800-14186800	Flanking Active TSS	A549	lung
40	chr5:14184000-14186400	Enhancers	Stomach Mucosa	stomach
41	chr5:14184000-14187000	Enhancers	Right Ventricle	heart
42	chr5:14184000-14191400	Weak transcription	Fetal Intestine Large	intestine
43	chr5:14184400-14187200	Enhancers	Brain Cingulate Gyrus	brain
44	chr5:14184400-14187600	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr5:14184400-14190000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:14184400-14197200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr5:14184600-14186400	Flanking Active TSS	NHLF	lung
48	chr5:14184600-14187000	Weak transcription	Fetal Kidney	kidney
49	chr5:14184600-14187200	Enhancers	Ovary	ovary
50	chr5:14184600-14202600	Weak transcription	Fetal Intestine Small	intestine

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