Variant report

Variant	rs12951643
Chromosome Location	chr17:46582018-46582019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46581860..46584451-chr17:57920963..57923173,2	MCF-7	breast:
2	chr17:46581475..46583827-chr17:46593469..46596750,3	MCF-7	breast:
3	chr17:46579782..46582446-chr17:46602782..46604521,2	MCF-7	breast:
4	chr17:46581827..46584181-chr20:55513887..55516591,2	MCF-7	breast:
5	chr17:46566753..46569471-chr17:46581683..46584279,2	MCF-7	breast:
6	chr17:46581684..46585389-chr17:46696226..46700293,4	K562	blood:
7	chr17:46575874..46579148-chr17:46581240..46583659,4	MCF-7	breast:
8	chr17:46574112..46575706-chr17:46580959..46582706,2	MCF-7	breast:

No data

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1022086	0.87[ASN][1000 genomes]
rs1553748	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1553755	0.84[CEU][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1811330	0.87[EUR][1000 genomes]
rs2288277	0.89[GIH][hapmap];0.84[TSI][hapmap]
rs2288279	0.89[GIH][hapmap]
rs36087615	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4793564	0.81[JPT][hapmap]
rs55762900	0.90[EUR][1000 genomes]
rs56238990	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56315233	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60944926	0.84[ASN][1000 genomes]
rs6504280	1.00[JPT][hapmap]
rs6504299	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7406324	0.89[GIH][hapmap];0.84[TSI][hapmap]
rs953732	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9747796	0.85[EUR][1000 genomes]
rs9907987	0.83[GIH][hapmap];0.84[TSI][hapmap]

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:31 , 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	chr17:46578400-46582800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr17:46578600-46582600	Weak transcription	HSMM	muscle
7	chr17:46578600-46583000	Weak transcription	HSMMtube	muscle
8	chr17:46578800-46582600	Weak transcription	NH-A	brain
9	chr17:46578800-46583000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:46578800-46583200	Weak transcription	NHLF	lung
11	chr17:46580200-46582200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr17:46580200-46584600	Enhancers	Placenta Amnion	Placenta Amnion
13	chr17:46580800-46582400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:46580800-46584000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr17:46581200-46582200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
16	chr17:46581200-46582200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr17:46581400-46582200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr17:46581400-46582400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr17:46581400-46582600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr17:46581600-46582200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr17:46581600-46582200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr17:46581600-46583400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr17:46581800-46582200	Weak transcription	A549	lung
24	chr17:46581800-46582800	Weak transcription	K562	blood
25	chr17:46582000-46583000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr17:46582000-46583000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:46582000-46583000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:46582000-46583000	Weak transcription	Fetal Stomach	stomach
29	chr17:46582000-46583200	Weak transcription	Colon Smooth Muscle	Colon
30	chr17:46582000-46583400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr17:46582000-46584200	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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