Variant report

Variant	rs146450763
Chromosome Location	chr3:52470494-52470495
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52468984..52472313-chr3:52476961..52479325,3	K562	blood:
2	chr3:52462146..52465116-chr3:52469373..52470993,2	K562	blood:
3	chr3:52468739..52471066-chr3:52488025..52490094,2	K562	blood:
4	chr3:52463683..52467756-chr3:52469500..52473710,3	K562	blood:
5	chr3:52468021..52470813-chr3:52473930..52477300,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114854	Chromatin interaction
ENSG00000010322	Chromatin interaction
ENSG00000010319	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52445600-52471600	Weak transcription	Gastric	stomach
2	chr3:52448600-52471200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:52450200-52478400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr3:52462800-52473600	Enhancers	Fetal Muscle Leg	muscle
5	chr3:52464600-52477400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:52465600-52470800	Enhancers	Fetal Heart	heart
7	chr3:52466000-52471400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:52466400-52473200	Enhancers	Spleen	Spleen
9	chr3:52467400-52477600	Weak transcription	HUVEC	blood vessel
10	chr3:52467600-52472400	Enhancers	Lung	lung
11	chr3:52468000-52471600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:52468000-52472400	Weak transcription	HepG2	liver
13	chr3:52468200-52472000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr3:52468600-52470600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:52468600-52471800	Weak transcription	Pancreas	Pancrea
16	chr3:52468600-52477600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:52468800-52471400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:52468800-52471400	Weak transcription	NHEK	skin
19	chr3:52468800-52471600	Weak transcription	Esophagus	oesophagus
20	chr3:52469000-52478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:52469200-52471000	Weak transcription	Right Atrium	heart
22	chr3:52469200-52471400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:52469200-52471600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:52469200-52476800	Weak transcription	Left Ventricle	heart
25	chr3:52469400-52471400	Weak transcription	HMEC	breast
26	chr3:52469600-52471000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:52469600-52471200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:52469600-52475200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr3:52469800-52470800	Genic enhancers	Placenta	Placenta
30	chr3:52469800-52471800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
31	chr3:52470000-52470600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:52470000-52470800	Enhancers	Right Ventricle	heart
33	chr3:52470000-52471000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:52470000-52471600	Weak transcription	Stomach Mucosa	stomach
35	chr3:52470200-52471000	Enhancers	Fetal Muscle Trunk	muscle
36	chr3:52470200-52471400	Enhancers	Fetal Lung	lung
37	chr3:52470200-52471800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr3:52470200-52471800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr3:52470200-52472000	Enhancers	HSMMtube	muscle
40	chr3:52470400-52470600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:52470400-52470800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:52470400-52470800	Enhancers	Colonic Mucosa	Colon
43	chr3:52470400-52470800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr3:52470400-52470800	Enhancers	Stomach Smooth Muscle	stomach
45	chr3:52470400-52470800	Enhancers	NHLF	lung
46	chr3:52470400-52471200	Enhancers	NHDF-Ad	bronchial
47	chr3:52470400-52471400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:52470400-52471400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:52470400-52471400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr3:52470400-52471400	Enhancers	HSMM	muscle

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