Variant report

Variant	rs73569223
Chromosome Location	chr8:48575542-48575543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr8:48575421-48575573	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:48575452..48577775-chr8:48649068..48651275,2	K562	blood:
2	chr8:48571104..48575817-chr8:48648052..48653139,6	K562	blood:
3	chr8:48572699..48576050-chr8:48649206..48652243,4	MCF-7	breast:

Variant related genes	Relation type
RNU6-665P	TF binding region
ENSG00000221869	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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57210767	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274985	0.82[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	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592579	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58965290	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59337594	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402950	0.97[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	0.82[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	0.82[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	0.89[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	0.95[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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567507	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567511	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567581	1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567589	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567594	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567596	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567597	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569205	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569212	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569216	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569220	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569227	1.00[AMR][1000 genomes]
rs73571448	1.00[AMR][1000 genomes]
rs73571453	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571454	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571459	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571460	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571462	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571465	1.00[AMR][1000 genomes]
rs73571467	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571469	0.86[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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48571600-48576200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr8:48571600-48577000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:48572600-48575800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:48572600-48577000	Enhancers	Placenta	Placenta
5	chr8:48572800-48575800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:48572800-48575800	Weak transcription	Fetal Brain Female	brain
7	chr8:48572800-48576400	Enhancers	Fetal Muscle Leg	muscle
8	chr8:48572800-48578400	Weak transcription	Primary B cells from cord blood	blood
9	chr8:48573000-48576000	Enhancers	Esophagus	oesophagus
10	chr8:48573000-48577000	Enhancers	Lung	lung
11	chr8:48573000-48582600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:48573200-48575600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr8:48573200-48575800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:48573200-48589200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:48573400-48575600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:48573400-48575600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:48573400-48575800	Weak transcription	Fetal Kidney	kidney
18	chr8:48573400-48576000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:48573400-48579200	Weak transcription	A549	lung
20	chr8:48573600-48575600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr8:48573600-48575800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:48573600-48576600	Weak transcription	Brain Substantia Nigra	brain
23	chr8:48573600-48576800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr8:48573600-48578800	Weak transcription	Adipose Nuclei	Adipose
25	chr8:48573600-48582200	Weak transcription	Spleen	Spleen
26	chr8:48573800-48575600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:48573800-48575600	Weak transcription	Gastric	stomach
28	chr8:48573800-48578400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:48574000-48576400	Weak transcription	HepG2	liver
30	chr8:48574000-48577200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:48574200-48581800	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:48574200-48589600	Weak transcription	Fetal Intestine Large	intestine
33	chr8:48574400-48577000	Enhancers	Fetal Heart	heart
34	chr8:48574400-48591000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:48574400-48592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:48574600-48575600	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:48574600-48575800	Weak transcription	Fetal Lung	lung
38	chr8:48574600-48576200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:48574800-48575600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr8:48574800-48575600	Weak transcription	HSMMtube	muscle
41	chr8:48574800-48575800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:48574800-48575800	Weak transcription	Brain Angular Gyrus	brain
43	chr8:48574800-48575800	Weak transcription	Left Ventricle	heart
44	chr8:48574800-48575800	Weak transcription	Psoas Muscle	Psoas
45	chr8:48574800-48575800	Weak transcription	Right Atrium	heart
46	chr8:48574800-48575800	Weak transcription	Right Ventricle	heart
47	chr8:48574800-48575800	Weak transcription	Small Intestine	intestine
48	chr8:48574800-48575800	Weak transcription	HSMM	muscle
49	chr8:48574800-48576000	Weak transcription	Fetal Stomach	stomach
50	chr8:48574800-48576600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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