Variant report

Variant	rs11725297
Chromosome Location	chr4:119809430-119809431
allele	C/T
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	MXI1	chr4:119809028-119813816	SK-N-SH	brain:	n/a	n/a
2	IRF1	chr4:119809288-119809467	K562	blood:	n/a	n/a

Variant related genes	Relation type
SYNPO2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10518319	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11098461	0.81[ASN][1000 genomes]
rs11936305	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11937710	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12374349	0.81[ASN][1000 genomes]
rs57672192	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58608417	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60919368	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72671606	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv289598	chr4:119803765-119811852	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119791400-119809800	Weak transcription	Left Ventricle	heart
2	chr4:119799600-119809600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:119803000-119809800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:119803200-119809600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:119803200-119809600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:119803200-119809800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr4:119806200-119809600	Weak transcription	Psoas Muscle	Psoas
8	chr4:119806400-119809800	Weak transcription	Liver	Liver
9	chr4:119809200-119809600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr4:119809200-119809600	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:119809200-119809600	Enhancers	HSMM	muscle
12	chr4:119809200-119810600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:119809200-119813800	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr4:119809400-119809600	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:119809400-119809600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr4:119809400-119809600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr4:119809400-119809600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:119809400-119809600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:119809400-119809600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:119809400-119809600	Enhancers	Adipose Nuclei	Adipose
21	chr4:119809400-119809600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr4:119809400-119809600	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr4:119809400-119809600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr4:119809400-119809600	Enhancers	NHEK	skin
25	chr4:119809400-119809800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:119809400-119809800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
27	chr4:119809400-119809800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:119809400-119809800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:119809400-119809800	Enhancers	Fetal Heart	heart
30	chr4:119809400-119810200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:119809400-119810200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr4:119809400-119810200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr4:119809400-119810200	Active TSS	Osteobl	bone
34	chr4:119809400-119810400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr4:119809400-119810400	Flanking Active TSS	HUVEC	blood vessel
36	chr4:119809400-119810400	Active TSS	NHLF	lung
37	chr4:119809400-119810600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:119809400-119812600	Active TSS	Brain Cingulate Gyrus	brain
39	chr4:119809400-119813800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr4:119809400-119813800	Active TSS	Fetal Stomach	stomach

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