Variant report

Variant	rs73459795
Chromosome Location	chr11:47471187-47471188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47393904..47396157-chr11:47470768..47473651,2	K562	blood:
2	chr11:47461517..47466481-chr11:47469061..47471319,5	K562	blood:

Variant related genes	Relation type
ENSG00000252327	Chromatin interaction
ENSG00000165917	Chromatin interaction

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

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

rs_ID	r²[population]
rs57830455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57878668	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60582355	1.00[AMR][1000 genomes]
rs73459751	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73459799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73461723	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73461734	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73461744	0.91[AFR][1000 genomes];1.00[AMR][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	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47448600-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:47453400-47480000	Weak transcription	Thymus	Thymus
3	chr11:47457400-47480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:47457400-47480800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:47457400-47488400	Weak transcription	Gastric	stomach
6	chr11:47459800-47480600	Weak transcription	Fetal Intestine Small	intestine
7	chr11:47459800-47480800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:47460000-47475600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:47461800-47480800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:47464000-47481000	Weak transcription	NHEK	skin
11	chr11:47465000-47480800	Weak transcription	Adipose Nuclei	Adipose
12	chr11:47465200-47475600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:47465800-47480800	Weak transcription	Primary T cells from cord blood	blood
14	chr11:47466000-47471200	Weak transcription	Liver	Liver
15	chr11:47466000-47475600	Weak transcription	Fetal Thymus	thymus
16	chr11:47467800-47475600	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:47468800-47482200	Weak transcription	HUVEC	blood vessel
18	chr11:47469000-47471400	Enhancers	HepG2	liver
19	chr11:47469200-47471400	Enhancers	Placenta	Placenta
20	chr11:47469400-47471400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr11:47469800-47471200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:47469800-47471600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:47469800-47471800	Enhancers	Spleen	Spleen
24	chr11:47470200-47471600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:47470400-47472000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:47470400-47473800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:47470600-47474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:47470800-47471400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:47470800-47471400	Enhancers	Lung	lung
30	chr11:47470800-47471400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr11:47471000-47471200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr11:47471000-47471400	Enhancers	Fetal Muscle Trunk	muscle
33	chr11:47471000-47471400	Enhancers	Psoas Muscle	Psoas
34	chr11:47471000-47471600	Enhancers	Fetal Muscle Leg	muscle
35	chr11:47471000-47471600	Enhancers	HSMM	muscle
36	chr11:47471000-47471600	Enhancers	HSMMtube	muscle
37	chr11:47471000-47471800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr11:47471000-47480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:47471000-47480800	Weak transcription	Left Ventricle	heart
40	chr11:47471000-47480800	Weak transcription	Pancreas	Pancrea
41	chr11:47471000-47486200	Weak transcription	Right Ventricle	heart

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