Variant report

Variant	rs1167718
Chromosome Location	chr12:120979394-120979395
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120727845..120730639-chr12:120977473..120979829,2	K562	blood:
2	chr12:120956241..120958725-chr12:120976597..120979586,2	MCF-7	breast:
3	chr12:120972728..120975672-chr12:120978556..120980555,2	MCF-7	breast:
4	chr12:120936251..120938670-chr12:120977737..120980679,2	K562	blood:

Variant related genes	Relation type
ENSG00000022840	Chromatin interaction
ENSG00000202538	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10774556	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1167698	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1167711	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1167712	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1184538	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1616443	0.81[AMR][1000 genomes]
rs2292681	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4767909	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs540520	0.83[ASN][1000 genomes]
rs559904	0.83[ASN][1000 genomes]
rs566124	0.84[ASN][1000 genomes]
rs608724	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs636737	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7138112	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs755549	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs787820	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs787829	0.91[AMR][1000 genomes]
rs787947	0.83[AMR][1000 genomes];0.90[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
rs1167718	POP5	Cis_1M	lymphoblastoid	RTeQTL
rs1167718	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	chr12:120973000-120980200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr12:120973400-120984200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:120973800-120984000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:120974400-120984200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:120974600-120979400	Genic enhancers	K562	blood
6	chr12:120974600-120984000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:120975200-120980000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:120975200-120982400	Enhancers	Pancreas	Pancrea
9	chr12:120975200-120985200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:120976000-120980000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:120976000-121018000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120976200-120984200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:120976200-120984600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:120976400-120979800	Enhancers	Fetal Heart	heart
15	chr12:120976400-120980200	Enhancers	Ovary	ovary
16	chr12:120976400-120983200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:120976400-120984200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:120976400-120984200	Weak transcription	Aorta	Aorta
19	chr12:120976400-121018200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:120976600-120979800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:120976600-120980800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:120976600-120982000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:120976600-120982200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:120976600-120983400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:120976600-120983600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:120976600-120984200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:120976800-120980800	Enhancers	Liver	Liver
28	chr12:120976800-120982400	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr12:120976800-120984000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:120977000-120982400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:120977000-120984000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:120977000-120984400	Weak transcription	Fetal Brain Male	brain
33	chr12:120977200-120979600	Enhancers	Psoas Muscle	Psoas
34	chr12:120977200-120982800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:120977200-120983800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:120977400-120979600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr12:120977400-120979600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr12:120977400-120980000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:120977400-120980400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:120977400-120981000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:120977400-120984000	Weak transcription	Esophagus	oesophagus
42	chr12:120977400-120984000	Weak transcription	HSMMtube	muscle
43	chr12:120977400-120984200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:120977400-120985000	Weak transcription	Fetal Kidney	kidney
45	chr12:120977400-120987400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:120977400-120995600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:120977400-121017600	Strong transcription	Fetal Thymus	thymus
48	chr12:120977400-121018200	Strong transcription	Fetal Stomach	stomach
49	chr12:120977600-120979800	Weak transcription	Fetal Intestine Large	intestine
50	chr12:120977600-120980600	Weak transcription	Rectal Smooth Muscle	rectum

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