Variant report

Variant	rs1167711
Chromosome Location	chr12:120989626-120989627
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:120989595-120990029	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:120972092..120974371-chr12:120989548..120992065,2	K562	blood:
2	chr12:120881393..120884283-chr12:120987763..120989984,2	MCF-7	breast:
3	chr12:120974402..120975933-chr12:120988975..120990489,2	MCF-7	breast:
4	chr12:120982785..120987053-chr12:120988717..120992540,5	MCF-7	breast:

Variant related genes	Relation type
RNF10	TF binding region
ENSG00000110871	Chromatin interaction
ENSG00000022840	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000257218	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10774556	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1167698	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167712	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1167718	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1184538	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1616443	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2292681	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767909	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs492574	0.81[ASN][1000 genomes]
rs540520	0.87[ASN][1000 genomes]
rs559904	0.89[ASN][1000 genomes]
rs566124	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs608724	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs636737	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs664211	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7138112	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs755549	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs787820	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs787829	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs787947	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906	chr12:120973683-121018441	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1167711	POP5	Cis_1M	lymphoblastoid	RTeQTL
rs1167711	COQ5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120976000-121018000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:120976400-121018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120977400-120995600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:120977400-121017600	Strong transcription	Fetal Thymus	thymus
5	chr12:120977400-121018200	Strong transcription	Fetal Stomach	stomach
6	chr12:120977600-121016800	Strong transcription	Dnd41	blood
7	chr12:120982200-121017600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:120983400-120990200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:120983400-120990200	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:120983600-121017600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:120983600-121017600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:120983600-121017800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:120983600-121017800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:120983600-121017800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr12:120983800-121017800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:120983800-121017800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:120984000-120995000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:120984000-120996000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:120984000-121017800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr12:120984000-121017800	Strong transcription	Fetal Intestine Large	intestine
21	chr12:120984000-121017800	Strong transcription	Thymus	Thymus
22	chr12:120984000-121018200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:120984200-120996000	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr12:120984200-121017400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:120984400-120996800	Strong transcription	Fetal Brain Female	brain
26	chr12:120984400-121018000	Strong transcription	Brain Germinal Matrix	brain
27	chr12:120984600-120992000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:120984800-120989800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:120984800-120995600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:120985600-120992000	Weak transcription	Aorta	Aorta
31	chr12:120985600-121000800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:120985600-121018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:120985800-120992200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:120985800-120992400	Weak transcription	Fetal Heart	heart
35	chr12:120986400-120990200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:120986600-120990600	Genic enhancers	Left Ventricle	heart
37	chr12:120986600-120992200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:120986600-120992200	Weak transcription	Fetal Brain Male	brain
39	chr12:120986600-120992200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:120987000-120990800	Genic enhancers	Duodenum Mucosa	Duodenum
41	chr12:120987000-120990800	Genic enhancers	Rectal Mucosa Donor 29	rectum
42	chr12:120987200-120990200	Weak transcription	Hela-S3	cervix
43	chr12:120987200-120992000	Weak transcription	HMEC	breast
44	chr12:120987200-120992200	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:120987400-120990200	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:120987400-120990200	Weak transcription	Lung	lung
47	chr12:120987400-120991600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:120987400-120992000	Weak transcription	Esophagus	oesophagus
49	chr12:120987400-120992000	Weak transcription	Gastric	stomach
50	chr12:120987400-120992000	Weak transcription	Rectal Smooth Muscle	rectum

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