Variant report

Variant	rs818690
Chromosome Location	chr9:116162831-116162832
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 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	chr9:116139132..116139813-chr9:116162815..116163745,2	MCF-7	breast:
16	chr9:116036224..116039468-chr9:116162090..116165920,4	MCF-7	breast:
17	chr9:116129674..116142040-chr9:116159218..116175468,34	MCF-7	breast:

No data

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs60242747	0.81[AFR][1000 genomes]
rs818682	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs818684	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs818685	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs818686	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs818687	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs818689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116154000-116163000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:116154000-116163000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:116156000-116163000	Weak transcription	Aorta	Aorta
4	chr9:116158600-116163000	Enhancers	K562	blood
5	chr9:116159400-116163000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:116159400-116163000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:116159600-116163000	Enhancers	NH-A	brain
8	chr9:116160200-116163000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr9:116161400-116164000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:116161800-116163200	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr9:116161800-116163200	Enhancers	Lung	lung
12	chr9:116162000-116163000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr9:116162000-116163000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:116162000-116163000	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr9:116162000-116163200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr9:116162000-116163200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr9:116162200-116163000	Enhancers	Primary hematopoietic stem cells	blood
18	chr9:116162200-116163000	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr9:116162200-116163000	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr9:116162200-116163000	Enhancers	Fetal Heart	heart
21	chr9:116162200-116163000	Enhancers	NHEK	skin
22	chr9:116162200-116163200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr9:116162200-116163200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:116162200-116163200	Enhancers	Spleen	Spleen
25	chr9:116162200-116163800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:116162200-116164000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:116162400-116163000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:116162400-116163000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr9:116162400-116163000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:116162400-116163000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:116162400-116163000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:116162400-116163000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:116162400-116163000	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr9:116162400-116163000	Flanking Active TSS	Pancreas	Pancrea
35	chr9:116162400-116163000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr9:116162400-116163000	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr9:116162400-116163000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr9:116162400-116163000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr9:116162400-116163000	Flanking Active TSS	Stomach Mucosa	stomach
40	chr9:116162400-116163000	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr9:116162400-116163000	Flanking Active TSS	Dnd41	blood
42	chr9:116162400-116163000	Flanking Active TSS	Hela-S3	cervix
43	chr9:116162400-116163200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr9:116162400-116163200	Flanking Active TSS	Fetal Thymus	thymus
45	chr9:116162400-116163800	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr9:116162400-116163800	Active TSS	Fetal Stomach	stomach
47	chr9:116162400-116164000	Active TSS	Primary T cells from cord blood	blood
48	chr9:116162600-116163000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:116162600-116163000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr9:116162600-116163000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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