Variant report

Variant	rs2325947
Chromosome Location	chr17:46580165-46580166
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46579782..46582446-chr17:46602782..46604521,2	MCF-7	breast:
2	chr17:46578035..46580947-chr17:46589126..46591025,3	K562	blood:
3	chr17:46577943..46580587-chr17:46630718..46633013,2	MCF-7	breast:
4	chr17:46574039..46576397-chr17:46577646..46580624,4	MCF-7	breast:
5	chr17:46578669..46581323-chr17:46590008..46592021,2	MCF-7	breast:
6	chr17:46580131..46581682-chr20:55568889..55570521,2	MCF-7	breast:
7	chr17:46549229..46552170-chr17:46578852..46580866,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120093	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2136498	1.00[AMR][1000 genomes]
rs28566062	1.00[AMR][1000 genomes]
rs2875819	1.00[AMR][1000 genomes]
rs8074951	1.00[AMR][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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46574600-46588000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:46574800-46582800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr17:46574800-46582800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:46574800-46582800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:46576800-46582000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:46577200-46582000	Enhancers	Fetal Stomach	stomach
7	chr17:46578400-46582800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr17:46578600-46581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:46578600-46582600	Weak transcription	HSMM	muscle
10	chr17:46578600-46583000	Weak transcription	HSMMtube	muscle
11	chr17:46578800-46582600	Weak transcription	NH-A	brain
12	chr17:46578800-46583000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:46578800-46583200	Weak transcription	NHLF	lung
14	chr17:46579000-46581600	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr17:46579200-46580200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:46579200-46581000	Weak transcription	Colon Smooth Muscle	Colon
17	chr17:46579200-46581600	Weak transcription	A549	lung
18	chr17:46579400-46580800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr17:46579400-46581000	Weak transcription	K562	blood
20	chr17:46579600-46580200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr17:46580000-46580400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links