Variant report

Variant	rs73220058
Chromosome Location	chr2:20616307-20616308
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20615126..20617019-chr2:20620144..20621829,2	K562	blood:
2	chr2:20605791..20608385-chr2:20615767..20618423,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOB-8	chr2:20616263-20616525	NONHSAT069440

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12623511	0.83[ASN][1000 genomes]
rs1483566	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483567	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483568	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1483569	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57211450	0.98[ASN][1000 genomes]
rs60560480	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73220011	0.82[ASN][1000 genomes]
rs73220052	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73220064	0.83[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	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv581165	chr2:20581058-20616990	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20610400-20621000	Weak transcription	Left Ventricle	heart
2	chr2:20611200-20618200	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:20611200-20618400	Weak transcription	HSMM	muscle
4	chr2:20611600-20618000	Weak transcription	Adipose Nuclei	Adipose
5	chr2:20611600-20618400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:20614200-20618800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:20614600-20616800	Enhancers	HepG2	liver
8	chr2:20614800-20616400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:20615200-20616600	Enhancers	HSMMtube	muscle
10	chr2:20615200-20617000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:20615200-20617200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:20615200-20617200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:20615200-20617200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:20615400-20617000	Enhancers	Primary hematopoietic stem cells	blood
15	chr2:20615400-20617000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:20615400-20617200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:20615400-20617200	Enhancers	GM12878-XiMat	blood
18	chr2:20615600-20617200	Enhancers	Fetal Brain Male	brain
19	chr2:20615600-20618400	Weak transcription	Stomach Mucosa	stomach
20	chr2:20615600-20619000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:20615600-20619000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:20615600-20619600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:20615600-20621000	Weak transcription	Esophagus	oesophagus
24	chr2:20615600-20621000	Weak transcription	NHDF-Ad	bronchial
25	chr2:20615600-20621600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:20615600-20624200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:20615800-20619000	Weak transcription	Placenta	Placenta
28	chr2:20615800-20621400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:20616000-20618800	Weak transcription	HMEC	breast
30	chr2:20616000-20618800	Weak transcription	K562	blood
31	chr2:20616000-20619000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:20616000-20621200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:20616000-20621400	Weak transcription	NHEK	skin
34	chr2:20616200-20616400	Enhancers	Fetal Brain Female	brain
35	chr2:20616200-20618400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr2:20616200-20619600	Enhancers	Liver	Liver

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