Variant report

Variant	rs58297257
Chromosome Location	chr5:178987537-178987538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:178986726..178988892-chr5:179104044..179106638,2	K562	blood:
2	chr5:178986094..178988194-chr5:179049451..179052935,4	MCF-7	breast:
3	chr5:178985235..178987908-chr5:179124412..179127341,2	MCF-7	breast:
4	chr5:178984205..178987569-chr5:178988108..178992792,6	MCF-7	breast:
5	chr5:178984558..178987542-chr5:178988263..178990973,3	K562	blood:
6	chr5:178986818..178988892-chr5:179105129..179106638,2	K562	blood:
7	chr5:178985192..178988541-chr5:179048594..179052191,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225051	Chromatin interaction
ENSG00000176783	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000127022	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10040357	1.00[EUR][1000 genomes]
rs11743197	1.00[EUR][1000 genomes]
rs28656195	1.00[EUR][1000 genomes]
rs4438838	1.00[EUR][1000 genomes]
rs57104438	1.00[EUR][1000 genomes]
rs58311224	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6863030	1.00[EUR][1000 genomes]
rs6872508	1.00[EUR][1000 genomes]
rs7449423	1.00[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	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv531996	chr5:178669297-178989687	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
6	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
7	nsv1022509	chr5:178950829-179002751	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
10	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv883272	chr5:178961872-179031595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv1028236	chr5:178962087-179019981	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178981200-178996200	Weak transcription	K562	blood
2	chr5:178985600-178987600	Active TSS	A549	lung
3	chr5:178985800-178987600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:178986400-179000400	Strong transcription	Dnd41	blood
5	chr5:178986800-178987600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr5:178986800-178987600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:178987000-178987600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:178987000-178987600	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr5:178987200-178987600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:178987200-178987600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
11	chr5:178987200-178987800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr5:178987200-178988400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:178987200-178989200	Weak transcription	Aorta	Aorta
14	chr5:178987200-178989400	Weak transcription	Primary T cells from cord blood	blood
15	chr5:178987200-178989600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:178987200-178995800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:178987200-179040800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:178987400-178987600	Active TSS	H1 Cell Line	embryonic stem cell
19	chr5:178987400-178987600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:178987400-178987600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:178987400-178987600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:178987400-178987600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:178987400-178987600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:178987400-178987600	Active TSS	Brain Angular Gyrus	brain
25	chr5:178987400-178987600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:178987400-178987600	Enhancers	Fetal Intestine Large	intestine
27	chr5:178987400-178987600	Enhancers	Stomach Smooth Muscle	stomach
28	chr5:178987400-178987600	Active TSS	HMEC	breast
29	chr5:178987400-178987600	Enhancers	NHEK	skin
30	chr5:178987400-178987800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:178987400-178987800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr5:178987400-178987800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:178987400-178987800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:178987400-178987800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:178987400-178987800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:178987400-178987800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:178987400-178987800	Weak transcription	Fetal Muscle Leg	muscle
38	chr5:178987400-178987800	Weak transcription	Placenta	Placenta
39	chr5:178987400-178987800	Weak transcription	Osteobl	bone
40	chr5:178987400-178988000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:178987400-178988000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr5:178987400-178988000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:178987400-178988000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:178987400-178988000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:178987400-178988000	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:178987400-178988000	Active TSS	Fetal Brain Female	brain
47	chr5:178987400-178988200	Weak transcription	Liver	Liver
48	chr5:178987400-178988200	Genic enhancers	Fetal Muscle Trunk	muscle
49	chr5:178987400-178988200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr5:178987400-178988200	Weak transcription	HepG2	liver

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