Variant report

Variant	rs7008593
Chromosome Location	chr8:54983175-54983176
allele	C/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	CEBPB	chr8:54982641-54983178	A549	lung:	n/a	n/a
2	POLR2A	chr8:54982784-54983221	HepG2	liver:	n/a	n/a
3	FOXM1	chr8:54983164-54984131	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54930533..54932312-chr8:54982689..54985099,2	K562	blood:

Variant related genes	Relation type
TDGF1P5	TF binding region

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10093311	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10093431	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10095163	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10095164	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10096376	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10099080	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10101289	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10102439	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10102726	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10102905	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10112203	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1044604	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1112697	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1112698	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11986605	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11988830	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988859	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11993180	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11994366	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11998000	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11998659	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12115094	0.87[EUR][1000 genomes]
rs16919750	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919924	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28369337	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28379732	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28397021	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28412019	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28413072	0.96[AMR][1000 genomes]
rs28507589	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28533970	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28565202	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28707072	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28736685	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28759114	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55704212	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55781183	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55864901	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56087054	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56902942	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57093383	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58515879	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58595525	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59087284	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59114404	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59270026	0.87[EUR][1000 genomes]
rs59277432	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59387379	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60186893	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60672236	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60805450	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6473899	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473901	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473902	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473903	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473905	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473906	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473907	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473908	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473910	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6981386	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6983650	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6983958	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6984119	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6989211	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6992073	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7001391	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7003793	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004808	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7005653	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7007028	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007031	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7007176	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7011032	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7014036	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7016108	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018089	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7018355	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73589273	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73589286	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73589295	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73590817	0.80[EUR][1000 genomes]
rs73679588	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73679589	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73679596	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73679602	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681304	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681305	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681307	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681308	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681309	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681805	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681806	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7815998	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7822750	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7823234	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7824355	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7824979	1.00[AMR][1000 genomes]
rs7833336	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7834757	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7836760	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7839276	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7844291	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7844299	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7846650	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9771960	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9918912	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv1818072	chr8:54968014-54991447	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv967590	chr8:54980634-54991502	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54944000-54985800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
3	chr8:54949800-54999400	Weak transcription	NHLF	lung
4	chr8:54956000-54999000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:54956600-54991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:54957200-54991600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:54957600-54983400	Weak transcription	Stomach Mucosa	stomach
8	chr8:54957600-55009800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr8:54960000-54993000	Weak transcription	Brain Substantia Nigra	brain
10	chr8:54962200-54991000	Weak transcription	Esophagus	oesophagus
11	chr8:54963200-54983600	Weak transcription	Brain Angular Gyrus	brain
12	chr8:54963200-54999200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:54963200-54999200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:54963200-54999200	Weak transcription	Colonic Mucosa	Colon
15	chr8:54963200-54999200	Weak transcription	Small Intestine	intestine
16	chr8:54963400-54999200	Weak transcription	HSMMtube	muscle
17	chr8:54963800-54999200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:54966200-54997600	Weak transcription	Pancreas	Pancrea
19	chr8:54966400-54991800	Weak transcription	NH-A	brain
20	chr8:54966400-55007600	Weak transcription	Psoas Muscle	Psoas
21	chr8:54966400-55012800	Weak transcription	Fetal Kidney	kidney
22	chr8:54966600-54991800	Weak transcription	Osteobl	bone
23	chr8:54966600-55012800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:54967200-54983200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:54967200-54983400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:54967200-54991600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:54967200-54999200	Weak transcription	Ovary	ovary
28	chr8:54970400-54983400	Weak transcription	Fetal Lung	lung
29	chr8:54970400-54983600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:54974400-54985600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:54974400-54999200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr8:54974600-54985200	Weak transcription	Lung	lung
33	chr8:54974600-54991000	Weak transcription	K562	blood
34	chr8:54974600-54991600	Weak transcription	Thymus	Thymus
35	chr8:54974600-54997400	Weak transcription	Spleen	Spleen
36	chr8:54974600-54999200	Weak transcription	Right Ventricle	heart
37	chr8:54974800-54983600	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:54974800-54985600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:54974800-54987400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:54974800-54989600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:54974800-54991000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:54974800-54991400	Weak transcription	Adipose Nuclei	Adipose
43	chr8:54974800-54991600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:54974800-54991600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:54974800-54999200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:54974800-55002200	Weak transcription	Gastric	stomach
47	chr8:54975000-54984200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:54975400-54985200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:54975400-54991000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:54975600-54984400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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