Variant report

Variant	rs8082055
Chromosome Location	chr17:45955103-45955104
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45954517..45959288-chr17:45971279..45974982,5	MCF-7	breast:
2	chr17:45934921..45937833-chr17:45952289..45955225,2	MCF-7	breast:
3	chr17:45927022..45929446-chr17:45953894..45957951,3	K562	blood:
4	chr17:45954484..45959209-chr17:45960047..45963266,6	MCF-7	breast:
5	chr17:45954562..45956149-chr17:45971370..45973332,2	K562	blood:
6	chr17:45952890..45955536-chr17:45970845..45973792,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189120	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000264920	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1133221	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12232488	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12453773	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16949270	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16949296	0.92[EUR][1000 genomes]
rs3764393	0.97[EUR][1000 genomes]
rs4450442	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4614773	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56006220	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56124407	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56218899	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58695897	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61702159	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7213084	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7214154	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7217147	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7219107	0.95[ASN][1000 genomes]
rs9944405	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45950400-45955400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:45950600-45955600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:45950800-45955200	Weak transcription	HSMM	muscle
4	chr17:45951000-45955400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:45952600-45955600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:45953000-45955200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:45953000-45955800	Weak transcription	HMEC	breast
8	chr17:45953000-45956000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:45953200-45955200	Weak transcription	HSMMtube	muscle
10	chr17:45953200-45955400	Weak transcription	Osteobl	bone
11	chr17:45953200-45955800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr17:45953400-45955200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:45953400-45955400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:45953400-45955600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr17:45953600-45955400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:45953600-45956200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr17:45954400-45957200	Enhancers	Placenta	Placenta
18	chr17:45954600-45955600	Enhancers	Fetal Thymus	thymus
19	chr17:45954600-45956200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr17:45954600-45956200	Enhancers	Lung	lung
21	chr17:45954600-45956800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:45954600-45956800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr17:45954600-45957000	Enhancers	Primary hematopoietic stem cells	blood
24	chr17:45954600-45957400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr17:45954600-45964400	Enhancers	Fetal Intestine Large	intestine
26	chr17:45954800-45955400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:45954800-45955400	Bivalent Enhancer	Fetal Intestine Small	intestine
28	chr17:45954800-45956000	Flanking Active TSS	K562	blood
29	chr17:45954800-45956400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:45954800-45956400	Enhancers	Fetal Lung	lung
31	chr17:45954800-45956600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr17:45954800-45956600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr17:45954800-45956800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr17:45954800-45956800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr17:45954800-45956800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:45955000-45955200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:45955000-45955200	Enhancers	Ovary	ovary
38	chr17:45955000-45955600	Weak transcription	Fetal Kidney	kidney
39	chr17:45955000-45956000	Bivalent Enhancer	Fetal Stomach	stomach
40	chr17:45955000-45956200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr17:45955000-45956400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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