Variant report

Variant	rs8074088
Chromosome Location	chr17:46564426-46564427
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46563248..46569374-chr17:46695616..46701359,7	K562	blood:
2	chr17:46563149..46564670-chr17:46680170..46682447,2	K562	blood:
3	chr17:46564020..46565955-chr17:46568575..46570721,2	K562	blood:
4	chr17:46563302..46565269-chr17:46565467..46567003,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120093	Chromatin interaction
ENSG00000108511	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12326027	1.00[EUR][1000 genomes]
rs6504258	1.00[EUR][1000 genomes]
rs7213163	1.00[EUR][1000 genomes]
rs8073595	1.00[EUR][1000 genomes]
rs8074754	1.00[EUR][1000 genomes]
rs9303545	1.00[EUR][1000 genomes]
rs9891149	1.00[EUR][1000 genomes]
rs9895188	1.00[EUR][1000 genomes]
rs9898743	1.00[EUR][1000 genomes]
rs9901750	1.00[EUR][1000 genomes]
rs9903647	1.00[EUR][1000 genomes]
rs9908054	1.00[EUR][1000 genomes]
rs9908741	1.00[EUR][1000 genomes]
rs9911434	1.00[EUR][1000 genomes]
rs9916477	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46554200-46564600	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr17:46555000-46566000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:46559200-46566200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:46560800-46564600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:46560800-46566000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:46560800-46566400	Enhancers	HMEC	breast
7	chr17:46561200-46566000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr17:46561200-46566200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:46561200-46566200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr17:46561400-46566600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:46561400-46569400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:46561400-46569600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:46561800-46564800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:46561800-46566000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:46561800-46567400	Weak transcription	Colon Smooth Muscle	Colon
16	chr17:46562000-46564800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:46562000-46565000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:46562000-46567600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr17:46562000-46569800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:46562200-46565000	Enhancers	NH-A	brain
21	chr17:46562400-46564800	Enhancers	NHLF	lung
22	chr17:46562400-46567800	Weak transcription	GM12878-XiMat	blood
23	chr17:46563200-46564600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:46563200-46564800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:46563400-46564600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:46563600-46569200	Enhancers	K562	blood
27	chr17:46563800-46564600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr17:46563800-46564600	Enhancers	A549	lung
29	chr17:46563800-46564800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr17:46563800-46564800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:46563800-46565000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:46563800-46565000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:46563800-46565600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr17:46564200-46564600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr17:46564200-46564600	Flanking Active TSS	HSMM	muscle
36	chr17:46564200-46564800	Flanking Active TSS	NHEK	skin
37	chr17:46564200-46567600	Weak transcription	Adipose Nuclei	Adipose
38	chr17:46564400-46565000	Enhancers	HSMMtube	muscle
39	chr17:46564400-46565000	Enhancers	NHDF-Ad	bronchial
40	chr17:46564400-46565000	Enhancers	Osteobl	bone

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