Variant report

Variant	rs73569220
Chromosome Location	chr8:48573183-48573184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48570759..48574488-chr8:48583570..48586841,4	K562	blood:
2	chr8:48571104..48575817-chr8:48648052..48653139,6	K562	blood:
3	chr8:48572699..48576050-chr8:48649206..48652243,4	MCF-7	breast:
4	chr8:48572127..48574593-chr8:48609264..48610909,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164808	Chromatin interaction
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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57210767	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57274985	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57398386	0.89[AFR][1000 genomes]
rs57659543	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58572522	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58592579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58965290	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59053481	1.00[AMR][1000 genomes]
rs59337594	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59422998	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60256648	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376238	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565228	1.00[AMR][1000 genomes]
rs73565235	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565236	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565244	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565247	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565249	1.00[AMR][1000 genomes]
rs73565251	1.00[AMR][1000 genomes]
rs73565254	0.89[AFR][1000 genomes]
rs73565260	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565265	1.00[AMR][1000 genomes]
rs73565271	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565275	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565280	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565287	1.00[AMR][1000 genomes]
rs73565297	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565299	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567576	1.00[AMR][1000 genomes]
rs73567579	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567581	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567582	1.00[AMR][1000 genomes]
rs73567584	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567589	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567590	1.00[AMR][1000 genomes]
rs73567593	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73567597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569208	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569223	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569224	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73569227	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571448	1.00[AMR][1000 genomes]
rs73571453	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571454	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571459	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571460	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571462	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571465	1.00[AMR][1000 genomes]
rs73571467	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73571469	0.84[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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:48555400-48573800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr8:48565600-48574400	Weak transcription	Aorta	Aorta
4	chr8:48570400-48575000	Enhancers	Pancreas	Pancrea
5	chr8:48571200-48573200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:48571200-48574800	Enhancers	Brain Angular Gyrus	brain
7	chr8:48571200-48574800	Enhancers	Psoas Muscle	Psoas
8	chr8:48571400-48573600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:48571600-48573200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:48571600-48573400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:48571600-48574800	Enhancers	Colonic Mucosa	Colon
12	chr8:48571600-48574800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr8:48571600-48576200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr8:48571600-48577000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:48572200-48573200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:48572200-48573400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr8:48572200-48574400	Flanking Active TSS	Fetal Heart	heart
18	chr8:48572200-48574800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:48572200-48574800	Enhancers	Ovary	ovary
20	chr8:48572200-48575000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:48572400-48573200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:48572400-48573200	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr8:48572400-48573200	Flanking Active TSS	Fetal Lung	lung
24	chr8:48572400-48573200	Flanking Active TSS	HepG2	liver
25	chr8:48572400-48573400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:48572400-48573400	Flanking Active TSS	NH-A	brain
27	chr8:48572400-48575000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:48572600-48573200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr8:48572600-48573200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:48572600-48573200	Active TSS	Fetal Brain Male	brain
31	chr8:48572600-48573200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr8:48572600-48573400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:48572600-48573400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr8:48572600-48573400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr8:48572600-48573400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:48572600-48573400	Enhancers	Brain Germinal Matrix	brain
37	chr8:48572600-48573400	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr8:48572600-48573400	Flanking Active TSS	NHDF-Ad	bronchial
39	chr8:48572600-48573600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr8:48572600-48573600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr8:48572600-48573800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr8:48572600-48573800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:48572600-48573800	Enhancers	Fetal Intestine Small	intestine
44	chr8:48572600-48573800	Enhancers	Gastric	stomach
45	chr8:48572600-48574200	Enhancers	Brain Cingulate Gyrus	brain
46	chr8:48572600-48574200	Enhancers	Fetal Intestine Large	intestine
47	chr8:48572600-48574400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr8:48572600-48574400	Enhancers	Stomach Mucosa	stomach
49	chr8:48572600-48574600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:48572600-48574800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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