Variant report

Variant	rs59402950
Chromosome Location	chr8:48566595-48566596
allele	C/T
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	IRF1	chr8:48566535-48566624	K562	blood:	n/a	n/a
2	MYC	chr8:48566496-48566744	K562	blood:	n/a	n/a

Variant related genes	Relation type
SPIDR	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

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]
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]
rs73565225	1.00[AMR][1000 genomes]
rs73565226	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]
rs73569220	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
3	chr8:48551800-48571400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:48552800-48571600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:48554800-48566800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:48554800-48571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:48554800-48571600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:48555400-48572200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:48555400-48573800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:48557600-48571600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:48558000-48570400	Weak transcription	Left Ventricle	heart
12	chr8:48558000-48571000	Weak transcription	Right Atrium	heart
13	chr8:48558200-48570400	Weak transcription	Pancreas	Pancrea
14	chr8:48560600-48571200	Weak transcription	Placenta	Placenta
15	chr8:48564200-48566800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:48564400-48566600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:48564400-48566600	Enhancers	NHEK	skin
18	chr8:48564400-48566800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:48564800-48566800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:48564800-48566800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr8:48564800-48566800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:48565000-48570400	Weak transcription	Gastric	stomach
23	chr8:48565000-48571200	Weak transcription	Right Ventricle	heart
24	chr8:48565000-48571200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:48565200-48566600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr8:48565400-48566800	Enhancers	Psoas Muscle	Psoas
27	chr8:48565600-48566800	Weak transcription	A549	lung
28	chr8:48565600-48574400	Weak transcription	Aorta	Aorta
29	chr8:48565800-48566800	Enhancers	K562	blood
30	chr8:48565800-48568600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:48565800-48571800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr8:48566000-48567000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:48566000-48568800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:48566000-48569000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:48566000-48569000	Weak transcription	HSMM	muscle
36	chr8:48566000-48569000	Weak transcription	Osteobl	bone
37	chr8:48566000-48569800	Weak transcription	NHLF	lung
38	chr8:48566000-48571400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:48566000-48571600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:48566000-48571600	Weak transcription	NH-A	brain
41	chr8:48566200-48566600	Weak transcription	Esophagus	oesophagus
42	chr8:48566200-48568800	Weak transcription	NHDF-Ad	bronchial
43	chr8:48566200-48569000	Weak transcription	Hela-S3	cervix
44	chr8:48566200-48571600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:48566200-48571600	Weak transcription	HMEC	breast
46	chr8:48566400-48571000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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