Variant report

Variant	rs60063053
Chromosome Location	chr3:52467708-52467709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52444856..52447738-chr3:52466597..52468559,2	K562	blood:
2	chr3:52460037..52468104-chr3:52477512..52481927,11	MCF-7	breast:
3	chr3:52463683..52467756-chr3:52469500..52473710,3	K562	blood:
4	chr3:52460730..52462242-chr3:52466014..52467861,2	K562	blood:
5	chr3:52462912..52465688-chr3:52467289..52468885,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000010319	Chromatin interaction
ENSG00000010318	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55931436	1.00[AMR][1000 genomes]
rs56263308	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56326215	0.97[AFR][1000 genomes]
rs56332579	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61589587	1.00[AMR][1000 genomes]
rs61734625	1.00[AMR][1000 genomes]
rs61738522	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6765965	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6776645	1.00[AMR][1000 genomes]
rs6778451	0.97[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]
rs73837056	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73837058	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73837574	0.97[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:6 , 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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52445600-52471600	Weak transcription	Gastric	stomach
2	chr3:52446200-52467800	Weak transcription	Esophagus	oesophagus
3	chr3:52446400-52470200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:52447000-52470200	Weak transcription	Fetal Lung	lung
5	chr3:52447200-52468000	Weak transcription	Colonic Mucosa	Colon
6	chr3:52448600-52471200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:52450200-52478400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:52462800-52469200	Enhancers	Adipose Nuclei	Adipose
9	chr3:52462800-52469800	Enhancers	Placenta	Placenta
10	chr3:52462800-52473600	Enhancers	Fetal Muscle Leg	muscle
11	chr3:52463000-52469200	Enhancers	Fetal Muscle Trunk	muscle
12	chr3:52463000-52469200	Enhancers	Left Ventricle	heart
13	chr3:52463400-52470400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:52463800-52468000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr3:52464600-52468000	Enhancers	HepG2	liver
16	chr3:52464600-52477400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr3:52465000-52468600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr3:52465000-52468600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr3:52465200-52469200	Enhancers	Right Atrium	heart
20	chr3:52465600-52469200	Enhancers	Right Ventricle	heart
21	chr3:52465600-52470800	Enhancers	Fetal Heart	heart
22	chr3:52466000-52468000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr3:52466000-52468200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:52466000-52468400	Enhancers	Fetal Stomach	stomach
25	chr3:52466000-52469000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:52466000-52469600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr3:52466000-52471400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:52466200-52468000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr3:52466400-52468600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:52466400-52469400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:52466400-52473200	Enhancers	Spleen	Spleen
32	chr3:52466800-52467800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:52466800-52468200	Enhancers	HSMMtube	muscle
34	chr3:52467000-52468200	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr3:52467200-52467800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:52467200-52467800	Enhancers	Fetal Kidney	kidney
37	chr3:52467400-52468200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:52467400-52468200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr3:52467400-52468600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:52467400-52468800	Enhancers	Ovary	ovary
41	chr3:52467400-52477600	Weak transcription	HUVEC	blood vessel
42	chr3:52467600-52467800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:52467600-52468000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr3:52467600-52468400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr3:52467600-52468600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr3:52467600-52468600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr3:52467600-52468800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:52467600-52468800	Enhancers	K562	blood
49	chr3:52467600-52468800	Enhancers	NHEK	skin
50	chr3:52467600-52469000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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