Variant report

Variant	rs1256450
Chromosome Location	chr15:83543040-83543041
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:83416895..83419331-chr15:83542514..83545188,2	K562	blood:
2	chr15:83540274..83544098-chr15:83544468..83546572,4	K562	blood:

Variant related genes	Relation type
ENSG00000250988	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1021022	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12385947	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1256424	0.86[EUR][1000 genomes]
rs1256436	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1256438	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256439	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256440	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256441	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256442	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256443	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256444	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256445	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1256446	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256447	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256448	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256449	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1256454	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17294229	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251275	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2621226	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2667378	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2667379	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2667380	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2667384	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55633961	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6603035	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7173264	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7173683	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8031927	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8036957	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs880289	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469557	chr15:83417763-83560629	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv482340	chr15:83417763-83560629	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv471687	chr15:83417764-83560629	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83504600-83549400	Weak transcription	Psoas Muscle	Psoas
2	chr15:83506200-83543800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:83519800-83544400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:83520000-83543600	Weak transcription	HSMM	muscle
5	chr15:83520000-83549800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr15:83520000-83563800	Weak transcription	Brain Hippocampus Middle	brain
7	chr15:83520200-83547000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:83522400-83543400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr15:83523600-83558000	Weak transcription	Esophagus	oesophagus
10	chr15:83524600-83567800	Weak transcription	Left Ventricle	heart
11	chr15:83524800-83563800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:83528000-83544000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:83537000-83551400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:83538000-83549600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:83540000-83544000	Weak transcription	Osteobl	bone
16	chr15:83540000-83544200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:83540200-83544000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:83540200-83544200	Weak transcription	Fetal Intestine Small	intestine
19	chr15:83540200-83545400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr15:83540400-83544600	Weak transcription	HepG2	liver
21	chr15:83540600-83573200	Weak transcription	Right Atrium	heart
22	chr15:83540800-83544000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr15:83540800-83563600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:83541000-83566200	Weak transcription	Spleen	Spleen
25	chr15:83541200-83545600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:83541400-83543200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr15:83541400-83544200	Strong transcription	Liver	Liver
28	chr15:83541600-83543600	Strong transcription	Aorta	Aorta
29	chr15:83541600-83544200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:83541600-83545000	Weak transcription	Colon Smooth Muscle	Colon
31	chr15:83541800-83544000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr15:83541800-83544000	Strong transcription	Gastric	stomach
33	chr15:83542000-83543200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:83542000-83543400	Strong transcription	Pancreas	Pancrea
35	chr15:83542000-83543600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr15:83542200-83543200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:83542200-83544400	Strong transcription	Fetal Muscle Leg	muscle
38	chr15:83542200-83544600	Weak transcription	Fetal Brain Female	brain
39	chr15:83542400-83544000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr15:83542400-83544000	Weak transcription	HSMMtube	muscle
41	chr15:83542400-83551000	Weak transcription	Right Ventricle	heart
42	chr15:83542400-83564000	Weak transcription	Lung	lung
43	chr15:83542400-83567200	Weak transcription	Brain Angular Gyrus	brain
44	chr15:83542800-83543800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr15:83542800-83544200	Strong transcription	Primary T cells from cord blood	blood
46	chr15:83542800-83558000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:83543000-83543400	Weak transcription	Brain Anterior Caudate	brain
48	chr15:83543000-83544200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:83543000-83544200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
50	chr15:83543000-83557600	Weak transcription	Fetal Stomach	stomach

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