Variant report

Variant	rs26289
Chromosome Location	chr5:14189976-14189977
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14143338..14144978-chr5:14188286..14191627,3	MCF-7	breast:
2	chr5:14186990..14191289-chr5:14196188..14199111,4	MCF-7	breast:
3	chr5:14188839..14190409-chr5:14192288..14195221,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs149123	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs151899	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs151900	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs151924	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs164629	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs171592	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs245445	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs26114	0.85[ASN][1000 genomes]
rs26136	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs26137	0.85[ASN][1000 genomes]
rs26281	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs27463	0.84[ASN][1000 genomes]
rs28030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs32340	0.80[ASN][1000 genomes]
rs32548	0.84[ASN][1000 genomes]
rs32549	0.85[ASN][1000 genomes]
rs33004	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs33007	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs33027	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs352112	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs39617	0.84[ASN][1000 genomes]
rs43181	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	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
6	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
7	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:95 , 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	chr5:14177400-14191800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:14181400-14191800	Enhancers	Fetal Heart	heart
4	chr5:14182000-14190200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:14183600-14193000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:14184000-14191400	Weak transcription	Fetal Intestine Large	intestine
7	chr5:14184400-14190000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:14184400-14197200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:14184600-14202600	Weak transcription	Fetal Intestine Small	intestine
10	chr5:14185000-14190000	Enhancers	Rectal Smooth Muscle	rectum
11	chr5:14185600-14194200	Enhancers	NHDF-Ad	bronchial
12	chr5:14185800-14190000	Weak transcription	Pancreas	Pancrea
13	chr5:14185800-14190800	Enhancers	HSMMtube	muscle
14	chr5:14186000-14190600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:14186000-14199800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:14186000-14200000	Weak transcription	Esophagus	oesophagus
17	chr5:14186200-14190000	Weak transcription	Fetal Brain Male	brain
18	chr5:14186200-14190200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:14186400-14190800	Enhancers	NH-A	brain
20	chr5:14186400-14190800	Enhancers	NHLF	lung
21	chr5:14186600-14190000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:14186600-14190200	Weak transcription	Fetal Stomach	stomach
23	chr5:14186600-14190400	Weak transcription	Fetal Lung	lung
24	chr5:14186600-14190800	Enhancers	Osteobl	bone
25	chr5:14186600-14191200	Weak transcription	Placenta	Placenta
26	chr5:14186600-14196600	Weak transcription	Brain Substantia Nigra	brain
27	chr5:14186800-14190000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:14186800-14190400	Weak transcription	Brain Germinal Matrix	brain
29	chr5:14186800-14190800	Weak transcription	Brain Angular Gyrus	brain
30	chr5:14187200-14190000	Flanking Active TSS	A549	lung
31	chr5:14187200-14190800	Enhancers	HSMM	muscle
32	chr5:14187200-14192200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr5:14187200-14193800	Weak transcription	Spleen	Spleen
34	chr5:14187200-14195400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:14187400-14190000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:14187400-14190000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:14187400-14190200	Weak transcription	GM12878-XiMat	blood
38	chr5:14187600-14190000	Weak transcription	Brain Hippocampus Middle	brain
39	chr5:14187600-14190000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:14187600-14190200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr5:14187600-14191000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr5:14187600-14193800	Weak transcription	Primary B cells from cord blood	blood
43	chr5:14187800-14190200	Weak transcription	Brain Anterior Caudate	brain
44	chr5:14188000-14199800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:14188200-14190000	Weak transcription	Small Intestine	intestine
46	chr5:14188200-14190800	Weak transcription	Liver	Liver
47	chr5:14188400-14190000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:14188400-14190000	Enhancers	HUVEC	blood vessel
49	chr5:14188400-14190200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:14188400-14191400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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