Variant report

Variant	rs2032165
Chromosome Location	chr18:8988701-8988702
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:8656651..8657422-chr18:8987942..8988820,2	MCF-7	breast:
2	chr18:8654390..8655746-chr18:8988013..8989122,6	MCF-7	breast:
3	chr18:8695528..8698349-chr18:8987290..8989538,2	MCF-7	breast:
4	chr18:8653968..8654862-chr18:8988163..8988970,3	MCF-7	breast:
5	chr18:8983237..8985130-chr18:8988547..8990547,2	K562	blood:
6	chr18:8988063..8988947-chr18:9054783..9055892,5	MCF-7	breast:
7	chr18:8882653..8883340-chr18:8988162..8989026,2	K562	blood:
8	chr18:8696431..8697427-chr18:8987914..8988780,4	K562	blood:
9	chr18:8696635..8697418-chr18:8987962..8988738,3	MCF-7	breast:
10	chr18:8979245..8982600-chr18:8987803..8990531,3	K562	blood:
11	chr18:8988621..8991582-chr18:9016532..9018302,2	K562	blood:

No data

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11663875	0.91[ASN][1000 genomes]
rs12605735	0.94[CHB][hapmap];0.91[ASN][1000 genomes]
rs12605754	0.91[ASN][1000 genomes]
rs12607230	0.91[ASN][1000 genomes]
rs1893146	0.98[ASN][1000 genomes]
rs28449557	0.94[ASN][1000 genomes]
rs28667793	0.91[ASN][1000 genomes]
rs4798746	1.00[ASN][1000 genomes]
rs60539038	0.91[ASN][1000 genomes]
rs62087094	0.91[ASN][1000 genomes]
rs66469248	0.91[ASN][1000 genomes]
rs66781209	0.91[ASN][1000 genomes]
rs67217398	0.91[ASN][1000 genomes]
rs67743220	0.91[ASN][1000 genomes]
rs7236251	0.94[ASN][1000 genomes]
rs72942761	0.91[ASN][1000 genomes]
rs931952	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9947345	0.91[ASN][1000 genomes]
rs9954967	0.98[ASN][1000 genomes]
rs9956612	0.94[CHB][hapmap];0.94[CHD][hapmap];0.90[ASN][1000 genomes]
rs9967281	0.94[CHB][hapmap];0.94[CHD][hapmap];0.90[ASN][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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2032165	AFG3L2	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8983200-8988800	Enhancers	Colon Smooth Muscle	Colon
2	chr18:8986200-8991200	Enhancers	K562	blood
3	chr18:8986800-8989000	Enhancers	HMEC	breast
4	chr18:8986800-8992600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:8987600-8990000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:8987800-8989400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:8987800-8990200	Weak transcription	HSMMtube	muscle
8	chr18:8987800-8990400	Weak transcription	Pancreas	Pancrea
9	chr18:8988000-8989800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr18:8988000-8990400	Weak transcription	HSMM	muscle
11	chr18:8988200-8989400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr18:8988200-8990600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr18:8988200-8991000	Weak transcription	Osteobl	bone
14	chr18:8988200-8991400	Enhancers	Liver	Liver
15	chr18:8988200-8994800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr18:8988400-8990000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr18:8988400-8990000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr18:8988400-8990000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr18:8988400-8990000	Weak transcription	NHDF-Ad	bronchial
20	chr18:8988400-8990400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:8988400-8990600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:8988400-8991000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:8988600-8989000	Weak transcription	A549	lung
24	chr18:8988600-8989000	Weak transcription	NH-A	brain
25	chr18:8988600-8989600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr18:8988600-8990000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr18:8988600-8990200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr18:8988600-8990200	Enhancers	GM12878-XiMat	blood

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