Variant report

Variant	rs73837056
Chromosome Location	chr3:52473008-52473009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52463683..52467756-chr3:52469500..52473710,3	K562	blood:
2	chr3:52473006..52475659-chr3:52488110..52490885,2	MCF-7	breast:
3	chr3:52471886..52474834-chr3:52476062..52479987,6	MCF-7	breast:
4	chr3:52463018..52466241-chr3:52472841..52475909,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000010319	Chromatin interaction
ENSG00000010322	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs55931436	1.00[AMR][1000 genomes]
rs56263308	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56326215	0.86[AFR][1000 genomes]
rs56332579	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60063053	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61589587	1.00[AMR][1000 genomes]
rs61734625	1.00[AMR][1000 genomes]
rs61738522	1.00[AMR][1000 genomes]
rs6765965	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6776645	1.00[AMR][1000 genomes]
rs6778451	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6789826	1.00[AMR][1000 genomes]
rs73835708	1.00[AMR][1000 genomes]
rs73835711	1.00[AMR][1000 genomes]
rs73835763	1.00[AMR][1000 genomes]
rs73835764	1.00[AMR][1000 genomes]
rs73835767	1.00[AMR][1000 genomes]
rs73835769	1.00[AMR][1000 genomes]
rs73835772	1.00[AMR][1000 genomes]
rs73835773	1.00[AMR][1000 genomes]
rs73835774	1.00[AMR][1000 genomes]
rs73837050	1.00[AMR][1000 genomes]
rs73837051	1.00[AMR][1000 genomes]
rs73837058	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73837574	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838346	1.00[AMR][1000 genomes]
rs73838349	1.00[AMR][1000 genomes]
rs7644241	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv984542	chr3:52285682-52516115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS 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	94 gene(s)	inside rSNPs	diseases
3	nsv834696	chr3:52317478-52479537	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers 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	45 gene(s)	inside rSNPs	diseases
4	nsv834697	chr3:52400578-52579417	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv876792	chr3:52430526-52575831	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv876793	chr3:52450043-52584787	Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv590303	chr3:52469785-52478428	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52450200-52478400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:52462800-52473600	Enhancers	Fetal Muscle Leg	muscle
3	chr3:52464600-52477400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:52466400-52473200	Enhancers	Spleen	Spleen
5	chr3:52467400-52477600	Weak transcription	HUVEC	blood vessel
6	chr3:52468600-52477600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:52469000-52478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:52469200-52476800	Weak transcription	Left Ventricle	heart
9	chr3:52469600-52475200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr3:52470400-52475000	Genic enhancers	Adipose Nuclei	Adipose
11	chr3:52470800-52484200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:52471000-52473600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:52471000-52475600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:52471200-52477200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:52471400-52473600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:52471400-52478000	Weak transcription	Right Atrium	heart
17	chr3:52471600-52474200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:52471600-52475400	Weak transcription	Fetal Stomach	stomach
19	chr3:52472000-52473200	Enhancers	Placenta	Placenta
20	chr3:52472200-52473200	Enhancers	Fetal Muscle Trunk	muscle
21	chr3:52472200-52473400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:52472200-52478200	Weak transcription	Gastric	stomach
23	chr3:52472200-52478600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:52472400-52475400	Strong transcription	HepG2	liver
25	chr3:52472600-52478000	Weak transcription	Esophagus	oesophagus
26	chr3:52472600-52478400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:52472800-52475400	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr3:52473000-52475200	Strong transcription	Right Ventricle	heart
29	chr3:52473000-52476800	Weak transcription	Lung	lung

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