Variant report

Variant	rs28919882
Chromosome Location	chr5:42813448-42813449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42804005..42807710-chr5:42809581..42813463,4	K562	blood:
2	chr5:42804005..42807994-chr5:42809581..42813463,4	K562	blood:

Variant related genes	Relation type
ENSG00000272234	Chromatin interaction
ENSG00000250722	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11739840	0.91[EUR][1000 genomes]
rs28943889	0.82[EUR][1000 genomes]
rs4318793	0.92[EUR][1000 genomes]
rs55851367	0.95[EUR][1000 genomes]
rs6882958	0.84[EUR][1000 genomes]
rs73087443	0.84[EUR][1000 genomes]
rs73095800	0.83[EUR][1000 genomes]
rs73097909	0.84[EUR][1000 genomes]
rs73097920	0.91[EUR][1000 genomes]
rs73097921	0.91[EUR][1000 genomes]
rs73097922	0.91[EUR][1000 genomes]
rs73099748	0.91[EUR][1000 genomes]
rs73099761	0.95[EUR][1000 genomes]
rs73751234	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7713512	0.84[EUR][1000 genomes]
rs7727694	0.86[EUR][1000 genomes]
rs7728727	0.84[EUR][1000 genomes]
rs7731163	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
9	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
10	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
11	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
14	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
15	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
16	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42811800-42813600	Weak transcription	Pancreas	Pancrea
2	chr5:42811800-42813800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:42812200-42813600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:42812200-42813800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:42812200-42813800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr5:42812200-42813800	Enhancers	Fetal Heart	heart
7	chr5:42812200-42814000	Enhancers	NHEK	skin
8	chr5:42812200-42814200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr5:42812200-42815000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:42812400-42813600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:42812400-42814000	Enhancers	Fetal Intestine Large	intestine
12	chr5:42812400-42814600	Flanking Active TSS	HepG2	liver
13	chr5:42812600-42813600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:42812600-42813600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:42812600-42813600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:42812600-42813600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:42812600-42813600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:42812600-42813600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:42812600-42813600	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:42812600-42813800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:42812600-42813800	Enhancers	Brain Germinal Matrix	brain
22	chr5:42812600-42813800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr5:42812600-42814200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:42812600-42814200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:42812600-42814200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr5:42812600-42814800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:42812800-42813800	Enhancers	Brain Cingulate Gyrus	brain
28	chr5:42812800-42814800	Weak transcription	Right Atrium	heart
29	chr5:42813000-42813600	Enhancers	Brain Angular Gyrus	brain
30	chr5:42813000-42813600	Enhancers	Brain Anterior Caudate	brain
31	chr5:42813000-42813600	Enhancers	Brain Hippocampus Middle	brain
32	chr5:42813200-42824400	Weak transcription	Adipose Nuclei	Adipose
33	chr5:42813400-42813600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:42813400-42813600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:42813400-42813600	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr5:42813400-42813800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:42813400-42813800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:42813400-42813800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr5:42813400-42814000	Flanking Active TSS	Liver	Liver
40	chr5:42813400-42814200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:42813400-42814200	Enhancers	Esophagus	oesophagus

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