Variant report

Variant	rs4489323
Chromosome Location	chr8:48591992-48591993
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48583972..48585841-chr8:48591112..48592777,2	K562	blood:
2	chr8:48582961..48585472-chr8:48591112..48593396,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10957549	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10957644	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10958058	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1106607	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11778548	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11782572	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11784823	0.86[EUR][1000 genomes]
rs12544329	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12549996	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12675378	0.87[EUR][1000 genomes]
rs12678110	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16928696	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1872840	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2129617	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2129618	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2130412	0.86[EUR][1000 genomes]
rs2130413	0.87[EUR][1000 genomes]
rs4536257	0.80[EUR][1000 genomes]
rs4608108	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4873368	0.85[EUR][1000 genomes]
rs4873395	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4873399	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4873437	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4873507	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4873529	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4873565	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873619	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55941013	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56092229	0.91[EUR][1000 genomes]
rs62539116	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62539144	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62539147	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62539150	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982620	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6987043	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989917	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7014443	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs876915	0.85[EUR][1000 genomes]
rs923499	0.85[EUR][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	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48574400-48592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:48574800-48595800	Weak transcription	Ovary	ovary
3	chr8:48575600-48592000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:48576000-48592800	Weak transcription	Small Intestine	intestine
5	chr8:48576000-48595800	Weak transcription	Gastric	stomach
6	chr8:48576800-48594600	Weak transcription	NHDF-Ad	bronchial
7	chr8:48576800-48612800	Weak transcription	Fetal Intestine Small	intestine
8	chr8:48582000-48613000	Weak transcription	Aorta	Aorta
9	chr8:48582200-48594600	Weak transcription	HSMMtube	muscle
10	chr8:48582200-48604200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:48582200-48609400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:48582800-48592800	Weak transcription	Osteobl	bone
13	chr8:48583000-48594400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr8:48583000-48613000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:48583600-48592800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:48585200-48613000	Weak transcription	Fetal Stomach	stomach
17	chr8:48586600-48592800	Weak transcription	Fetal Thymus	thymus
18	chr8:48587200-48592000	Enhancers	Placenta	Placenta
19	chr8:48588800-48594600	Weak transcription	Adipose Nuclei	Adipose
20	chr8:48588800-48594800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr8:48589200-48593800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:48589400-48594400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:48589400-48594600	Weak transcription	HSMM	muscle
24	chr8:48589400-48594800	Weak transcription	NHLF	lung
25	chr8:48589600-48595800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:48589600-48604200	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:48589800-48593400	Weak transcription	Esophagus	oesophagus
28	chr8:48589800-48595800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:48590400-48592800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr8:48590400-48610000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:48590600-48625200	Weak transcription	HepG2	liver
32	chr8:48590800-48607600	Weak transcription	Primary B cells from cord blood	blood
33	chr8:48591000-48592000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:48591000-48592200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:48591000-48593000	Enhancers	Lung	lung
36	chr8:48591200-48592400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr8:48591200-48592600	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr8:48591200-48592600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:48591200-48595400	Weak transcription	Brain Substantia Nigra	brain
40	chr8:48591200-48595400	Weak transcription	Stomach Mucosa	stomach
41	chr8:48591200-48595600	Weak transcription	Brain Anterior Caudate	brain
42	chr8:48591200-48595600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:48591400-48592200	Weak transcription	Primary T cells from cord blood	blood
44	chr8:48591400-48592600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr8:48591400-48592800	Weak transcription	Spleen	Spleen
46	chr8:48591400-48595600	Weak transcription	Fetal Heart	heart
47	chr8:48591400-48595800	Weak transcription	Left Ventricle	heart
48	chr8:48591400-48606000	Weak transcription	Right Ventricle	heart
49	chr8:48591600-48594200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr8:48591600-48594400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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