Variant report

Variant	rs73569224
Chromosome Location	chr8:48577029-48577030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48575452..48577775-chr8:48649068..48651275,2	K562	blood:
2	chr8:48571242..48574172-chr8:48576074..48578084,2	K562	blood:
3	chr8:48576905..48578450-chr8:48580494..48582582,2	K562	blood:
4	chr8:48573853..48575397-chr8:48576919..48578598,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs16926041	1.00[AMR][1000 genomes]
rs16926621	1.00[AMR][1000 genomes]
rs16927308	1.00[AMR][1000 genomes]
rs16927336	1.00[AMR][1000 genomes]
rs2362918	1.00[AMR][1000 genomes]
rs56807775	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57210767	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274985	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57398386	0.87[AFR][1000 genomes]
rs57659543	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58572522	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592579	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58965290	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59337594	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402950	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59422998	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60256648	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376238	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565236	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565244	1.00[AMR][1000 genomes]
rs73565247	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565254	0.87[AFR][1000 genomes]
rs73565260	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565273	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565275	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565280	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565287	1.00[AMR][1000 genomes]
rs73565297	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565299	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567507	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567511	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567581	1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	1.00[AMR][1000 genomes]
rs73567589	1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567594	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567596	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567597	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569205	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569208	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569212	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569216	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569220	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569223	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569227	1.00[AMR][1000 genomes]
rs73571448	1.00[AMR][1000 genomes]
rs73571453	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571454	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571459	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571460	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571462	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571465	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571469	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73577390	1.00[AMR][1000 genomes]
rs7463108	1.00[AMR][1000 genomes]
rs751786	1.00[AMR][1000 genomes]
rs7818094	1.00[AMR][1000 genomes]
rs8178070	1.00[AMR][1000 genomes]
rs8178271	1.00[AMR][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	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48572800-48578400	Weak transcription	Primary B cells from cord blood	blood
2	chr8:48573000-48582600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:48573200-48589200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:48573400-48579200	Weak transcription	A549	lung
5	chr8:48573600-48578800	Weak transcription	Adipose Nuclei	Adipose
6	chr8:48573600-48582200	Weak transcription	Spleen	Spleen
7	chr8:48573800-48578400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:48574000-48577200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:48574200-48581800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:48574200-48589600	Weak transcription	Fetal Intestine Large	intestine
11	chr8:48574400-48591000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:48574400-48592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:48574800-48580200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:48574800-48581200	Weak transcription	Brain Anterior Caudate	brain
15	chr8:48574800-48581200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:48574800-48581600	Weak transcription	Aorta	Aorta
17	chr8:48574800-48588200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:48574800-48588400	Weak transcription	NHLF	lung
19	chr8:48574800-48595800	Weak transcription	Ovary	ovary
20	chr8:48575000-48580400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:48575000-48581200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:48575000-48581600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:48575000-48589400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:48575200-48578800	Weak transcription	Liver	Liver
25	chr8:48575600-48592000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr8:48575800-48580200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:48575800-48581200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:48576000-48581400	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:48576000-48589200	Weak transcription	Esophagus	oesophagus
30	chr8:48576000-48592800	Weak transcription	Small Intestine	intestine
31	chr8:48576000-48595800	Weak transcription	Gastric	stomach
32	chr8:48576200-48580600	Weak transcription	HSMMtube	muscle
33	chr8:48576200-48581000	Weak transcription	HSMM	muscle
34	chr8:48576200-48581800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:48576200-48591200	Weak transcription	Primary T cells from cord blood	blood
36	chr8:48576400-48581200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:48576400-48581600	Weak transcription	Brain Angular Gyrus	brain
38	chr8:48576400-48581800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:48576800-48578800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:48576800-48581000	Weak transcription	Right Atrium	heart
41	chr8:48576800-48581000	Weak transcription	Right Ventricle	heart
42	chr8:48576800-48581200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:48576800-48581200	Weak transcription	Psoas Muscle	Psoas
44	chr8:48576800-48581800	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:48576800-48589400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr8:48576800-48591000	Weak transcription	Pancreas	Pancrea
47	chr8:48576800-48594600	Weak transcription	NHDF-Ad	bronchial
48	chr8:48576800-48612800	Weak transcription	Fetal Intestine Small	intestine
49	chr8:48577000-48580200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:48577000-48581000	Weak transcription	Placenta	Placenta

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