Variant report

Variant	rs818689
Chromosome Location	chr9:116162760-116162761
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:116156284..116160950-chr9:116161266..116165857,7	MCF-7	breast:
2	chr9:116036323..116039598-chr9:116161482..116165034,3	MCF-7	breast:
3	chr9:116137664..116140470-chr9:116160302..116166802,9	MCF-7	breast:
4	chr9:116148030..116156107-chr9:116161914..116166950,9	MCF-7	breast:
5	chr9:116161806..116163364-chr9:116224940..116227367,2	MCF-7	breast:
6	chr9:116074654..116076779-chr9:116160819..116163014,2	MCF-7	breast:
7	chr9:116063542..116066515-chr9:116162468..116165263,2	K562	blood:
8	chr9:116156868..116159507-chr9:116160303..116163382,3	K562	blood:
9	chr9:116157544..116160411-chr9:116160502..116163324,2	MCF-7	breast:
10	chr9:116154304..116155951-chr9:116160970..116163323,2	K562	blood:
11	chr9:116162231..116166322-chr9:116170436..116174778,10	MCF-7	breast:
12	chr9:116109902..116113383-chr9:116162345..116166968,8	MCF-7	breast:
13	chr9:116138257..116141960-chr9:116162197..116164966,3	K562	blood:
14	chr9:116109912..116111859-chr9:116161206..116163943,2	K562	blood:
15	chr9:116036224..116039468-chr9:116162090..116165920,4	MCF-7	breast:
16	chr9:116129674..116142040-chr9:116159218..116175468,34	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction
ENSG00000165188	Chromatin interaction
ENSG00000119431	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000119411	Chromatin interaction
ENSG00000136875	Chromatin interaction
ENSG00000176386	Chromatin interaction
ENSG00000148218	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16906786	0.85[YRI][hapmap]
rs1771220	1.00[CHB][hapmap]
rs60242747	0.81[AFR][1000 genomes]
rs7875727	0.85[ASW][hapmap];0.81[GIH][hapmap]
rs818682	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs818684	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs818685	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs818686	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs818687	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs818690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs818693	0.86[CEU][hapmap]

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	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs818689	ALAD	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116146600-116162800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr9:116153800-116162800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:116154000-116163000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:116154000-116163000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:116156000-116163000	Weak transcription	Aorta	Aorta
6	chr9:116158600-116163000	Enhancers	K562	blood
7	chr9:116159400-116163000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:116159400-116163000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:116159600-116163000	Enhancers	NH-A	brain
10	chr9:116160200-116163000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr9:116160600-116162800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr9:116160600-116162800	Flanking Active TSS	Liver	Liver
13	chr9:116160600-116162800	Enhancers	Ovary	ovary
14	chr9:116160600-116162800	Enhancers	Right Atrium	heart
15	chr9:116161000-116162800	Enhancers	Fetal Muscle Leg	muscle
16	chr9:116161200-116162800	Enhancers	Left Ventricle	heart
17	chr9:116161400-116164000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:116161600-116162800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr9:116161600-116162800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr9:116161600-116162800	Enhancers	Placenta	Placenta
21	chr9:116161600-116162800	Enhancers	Right Ventricle	heart
22	chr9:116161800-116162800	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr9:116161800-116162800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr9:116161800-116162800	Enhancers	Colon Smooth Muscle	Colon
25	chr9:116161800-116163200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr9:116161800-116163200	Enhancers	Lung	lung
27	chr9:116162000-116162800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:116162000-116162800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr9:116162000-116162800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:116162000-116162800	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr9:116162000-116162800	Enhancers	Fetal Lung	lung
32	chr9:116162000-116162800	Flanking Active TSS	HepG2	liver
33	chr9:116162000-116163000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr9:116162000-116163000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:116162000-116163000	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr9:116162000-116163200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr9:116162000-116163200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr9:116162200-116162800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:116162200-116162800	Enhancers	Primary B cells from peripheral blood	blood
40	chr9:116162200-116162800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr9:116162200-116162800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr9:116162200-116162800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:116162200-116162800	Enhancers	Fetal Muscle Trunk	muscle
44	chr9:116162200-116163000	Enhancers	Primary hematopoietic stem cells	blood
45	chr9:116162200-116163000	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr9:116162200-116163000	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr9:116162200-116163000	Enhancers	Fetal Heart	heart
48	chr9:116162200-116163000	Enhancers	NHEK	skin
49	chr9:116162200-116163200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr9:116162200-116163200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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