Variant report

Variant	rs138549917
Chromosome Location	chr3:52469889-52469890
allele	G/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	chr3:52467987..52470484-chr3:52476648..52478461,2	K562	blood:
3	chr3:52462146..52465116-chr3:52469373..52470993,2	K562	blood:
4	chr3:52468739..52471066-chr3:52488025..52490094,2	K562	blood:
5	chr3:52463683..52467756-chr3:52469500..52473710,3	K562	blood:
6	chr3:52468021..52470813-chr3:52473930..52477300,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000010319	Chromatin interaction
ENSG00000010322	Chromatin interaction
ENSG00000114854	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52445600-52471600	Weak transcription	Gastric	stomach
2	chr3:52446400-52470200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:52447000-52470200	Weak transcription	Fetal Lung	lung
4	chr3:52448600-52471200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:52450200-52478400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:52462800-52473600	Enhancers	Fetal Muscle Leg	muscle
7	chr3:52463400-52470400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:52464600-52477400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:52465600-52470800	Enhancers	Fetal Heart	heart
10	chr3:52466000-52471400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:52466400-52473200	Enhancers	Spleen	Spleen
12	chr3:52467400-52477600	Weak transcription	HUVEC	blood vessel
13	chr3:52467600-52472400	Enhancers	Lung	lung
14	chr3:52468000-52470200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr3:52468000-52471600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:52468000-52472400	Weak transcription	HepG2	liver
17	chr3:52468200-52472000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr3:52468600-52470000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:52468600-52470600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:52468600-52471800	Weak transcription	Pancreas	Pancrea
21	chr3:52468600-52477600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr3:52468800-52470400	Weak transcription	Ovary	ovary
23	chr3:52468800-52471400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:52468800-52471400	Weak transcription	NHEK	skin
25	chr3:52468800-52471600	Weak transcription	Esophagus	oesophagus
26	chr3:52469000-52478200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:52469200-52470000	Weak transcription	Right Ventricle	heart
28	chr3:52469200-52470200	Genic enhancers	Fetal Muscle Trunk	muscle
29	chr3:52469200-52470400	Weak transcription	Colonic Mucosa	Colon
30	chr3:52469200-52471000	Weak transcription	Right Atrium	heart
31	chr3:52469200-52471400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:52469200-52471600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:52469200-52476800	Weak transcription	Left Ventricle	heart
34	chr3:52469400-52470000	Enhancers	Adipose Nuclei	Adipose
35	chr3:52469400-52470400	Weak transcription	Fetal Stomach	stomach
36	chr3:52469400-52471400	Weak transcription	HMEC	breast
37	chr3:52469600-52471000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:52469600-52471200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:52469600-52475200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr3:52469800-52470200	Weak transcription	HSMMtube	muscle
41	chr3:52469800-52470800	Genic enhancers	Placenta	Placenta
42	chr3:52469800-52471800	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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