Variant report

Variant	rs10780613
Chromosome Location	chr9:72373752-72373753
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:72371606..72373829-chr9:72533135..72535747,2	MCF-7	breast:
2	chr9:72286195..72289118-chr9:72373474..72376010,3	MCF-7	breast:
3	chr9:72287056..72289421-chr9:72373634..72375235,2	MCF-7	breast:
4	chr9:72360551..72362642-chr9:72371189..72374048,2	K562	blood:
5	chr9:72371967..72374601-chr9:72378093..72381020,2	K562	blood:
6	chr9:72260891..72262906-chr9:72372522..72374744,2	MCF-7	breast:
7	chr9:72369991..72372114-chr9:72372371..72373981,2	K562	blood:
8	chr9:72089279..72091764-chr9:72373318..72374835,2	MCF-7	breast:
9	chr9:72373387..72376208-chr9:72873924..72875696,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198887	Chromatin interaction
ENSG00000107282	Chromatin interaction
ENSG00000261447	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10511968	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10735563	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10780612	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10867932	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10867996	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11139904	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11139928	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11139962	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11139992	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11140074	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12685725	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1330241	0.93[EUR][1000 genomes]
rs1854684	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1854685	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2309518	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7862630	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471309	chr9:72273898-72410323	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
2	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv831611	chr9:72361905-72512134	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72333400-72374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:72347200-72374200	Weak transcription	Spleen	Spleen
3	chr9:72347400-72374000	Weak transcription	Gastric	stomach
4	chr9:72363200-72374000	Weak transcription	Lung	lung
5	chr9:72365400-72373800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:72365800-72373800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:72367400-72374000	Weak transcription	Stomach Mucosa	stomach
8	chr9:72371400-72373800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr9:72371800-72375600	Active TSS	Fetal Brain Male	brain
10	chr9:72372200-72375400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:72372400-72375800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr9:72372600-72373800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr9:72372600-72375600	Active TSS	Fetal Brain Female	brain
14	chr9:72372800-72375000	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr9:72372800-72375000	Active TSS	Brain Germinal Matrix	brain
16	chr9:72372800-72375600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:72373000-72373800	Enhancers	Adipose Nuclei	Adipose
18	chr9:72373000-72373800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr9:72373000-72374000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr9:72373000-72375200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:72373000-72375400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:72373000-72375400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:72373000-72375600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr9:72373000-72375800	Active TSS	GM12878-XiMat	blood
25	chr9:72373200-72373800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr9:72373200-72374000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr9:72373200-72374200	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr9:72373200-72374200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:72373200-72374200	Flanking Active TSS	Fetal Kidney	kidney
30	chr9:72373200-72375200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr9:72373200-72375200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr9:72373200-72375200	Active TSS	HSMM	muscle
33	chr9:72373200-72375200	Active TSS	NHLF	lung
34	chr9:72373200-72375400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:72373200-72375400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:72373200-72375400	Active TSS	Brain Hippocampus Middle	brain
37	chr9:72373200-72375400	Active TSS	HSMMtube	muscle
38	chr9:72373200-72375600	Active TSS	Brain Angular Gyrus	brain
39	chr9:72373200-72375600	Active TSS	Fetal Stomach	stomach
40	chr9:72373200-72375600	Active TSS	Fetal Thymus	thymus
41	chr9:72373200-72375600	Active TSS	Right Ventricle	heart
42	chr9:72373200-72375600	Active TSS	HMEC	breast
43	chr9:72373200-72375600	Active TSS	K562	blood
44	chr9:72373400-72373800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr9:72373400-72373800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr9:72373400-72373800	Enhancers	Fetal Intestine Small	intestine
47	chr9:72373400-72373800	Enhancers	Placenta	Placenta
48	chr9:72373400-72373800	Enhancers	Ovary	ovary
49	chr9:72373400-72374000	Enhancers	Primary B cells from peripheral blood	blood
50	chr9:72373400-72374000	Flanking Active TSS	Liver	Liver

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