Variant report

Variant	rs59388875
Chromosome Location	chr4:54786103-54786104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2033053	1.00[EUR][1000 genomes]
rs4241980	1.00[EUR][1000 genomes]
rs73147718	1.00[EUR][1000 genomes]
rs73147751	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1014456	chr4:54759975-54807987	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1014406	chr4:54773519-54813321	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54778200-54786800	Enhancers	HMEC	breast
2	chr4:54778200-54787400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:54778400-54786800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:54781200-54786200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:54781200-54790200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:54781400-54786200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:54781800-54790200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:54782000-54786200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr4:54782200-54786400	Weak transcription	NH-A	brain
10	chr4:54783400-54786200	Weak transcription	NHDF-Ad	bronchial
11	chr4:54784400-54786200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:54784400-54786200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:54784600-54786200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:54784600-54786200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:54784800-54786200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:54785000-54786200	Weak transcription	Primary B cells from cord blood	blood
17	chr4:54785000-54786400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:54785600-54786600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:54785600-54786600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:54785600-54786600	Enhancers	Placenta Amnion	Placenta Amnion
21	chr4:54785600-54786800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:54785600-54786800	Enhancers	NHEK	skin
23	chr4:54785600-54790800	Weak transcription	Esophagus	oesophagus
24	chr4:54785800-54786200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:54785800-54786400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:54785800-54786600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:54785800-54786600	Enhancers	HUVEC	blood vessel
28	chr4:54785800-54786800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:54785800-54786800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr4:54785800-54786800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:54785800-54786800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr4:54785800-54786800	Enhancers	NHLF	lung
33	chr4:54786000-54786400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:54786000-54786400	Enhancers	Primary hematopoietic stem cells	blood
35	chr4:54786000-54786600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:54786000-54786600	Enhancers	Placenta	Placenta
37	chr4:54786000-54786600	Enhancers	Fetal Stomach	stomach
38	chr4:54786000-54786600	Enhancers	Spleen	Spleen
39	chr4:54786000-54786800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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