Variant report

Variant	rs72916009
Chromosome Location	chr4:120990445-120990446
allele	A/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	POLR2A	chr4:120990402-120990848	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120131923..120135922-chr4:120985229..120990455,5	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC110373.1-6	chr4:120988015-120991623	NONHSAT098115

Variant related genes	Relation type
MAD2L1	TF binding region
ENSG00000145390	Chromatin interaction
ENSG00000178636	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10001279	0.97[ASN][1000 genomes]
rs10007669	0.97[ASN][1000 genomes]
rs17009778	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009783	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010476	0.97[ASN][1000 genomes]
rs2016162	0.97[ASN][1000 genomes]
rs28440956	0.97[ASN][1000 genomes]
rs9996705	1.00[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	nsv532739	chr4:120392824-121098103	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv1007641	chr4:120884220-121555889	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537234	chr4:120884220-121555889	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120989000-120990600	Flanking Active TSS	Dnd41	blood
2	chr4:120989000-120991000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:120989200-120990600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr4:120989200-120991000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:120989400-120990600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:120989400-120990600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:120989400-120990600	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:120989400-120990600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr4:120989400-120990800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:120989400-120991000	Weak transcription	NH-A	brain
11	chr4:120989400-120992200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:120989400-120992400	Enhancers	NHLF	lung
13	chr4:120989400-121012600	Weak transcription	Aorta	Aorta
14	chr4:120989600-120990600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:120989600-120990600	Enhancers	HepG2	liver
16	chr4:120989600-120991000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr4:120989600-120991000	Weak transcription	HUVEC	blood vessel
18	chr4:120989600-120991200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr4:120989600-120991600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:120989600-120991800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:120989600-120992200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:120989600-120992200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:120989600-120992200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:120989600-120992400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:120989600-120992400	Enhancers	Osteobl	bone
26	chr4:120989600-120992800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:120989600-120993000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:120989800-120990800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:120989800-120990800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:120989800-120990800	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:120989800-120990800	Weak transcription	NHDF-Ad	bronchial
32	chr4:120989800-120991000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:120989800-120991000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:120989800-120991000	Weak transcription	HSMM	muscle
35	chr4:120989800-120991200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:120989800-120991400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:120989800-120991600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:120989800-120992000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr4:120989800-120992000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr4:120989800-120996400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:120990200-120990600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:120990400-120990600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr4:120990400-120990600	Flanking Active TSS	K562	blood
44	chr4:120990400-120991000	Weak transcription	Primary T cells from cord blood	blood
45	chr4:120990400-120992000	Active TSS	GM12878-XiMat	blood
46	chr4:120990400-120992000	Enhancers	HMEC	breast
47	chr4:120990400-120992200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr4:120990400-120992400	Enhancers	NHEK	skin
49	chr4:120990400-120993400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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