Variant report

Variant	rs58715708
Chromosome Location	chr1:75224442-75224443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75218089..75220075-chr1:75222943..75225364,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11162945	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1122338	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1133891	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11485264	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11485299	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034724	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12043726	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359750	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1581870	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032969	0.84[AMR][1000 genomes]
rs28374065	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28445096	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28515016	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28563168	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28575168	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28719150	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28740807	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28804147	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28810187	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3806161	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3819947	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650004	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650005	0.83[AMR][1000 genomes]
rs4650007	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4650287	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4650288	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60292279	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6681874	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs745108	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7535692	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540514	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs768223	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9647	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs58715708	TYW3	cis	Heart Left Ventricle	GTEx
rs58715708	TYW3	cis	Artery Tibial	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75200000-75231600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr1:75201400-75231800	Strong transcription	Dnd41	blood
3	chr1:75202400-75226400	Strong transcription	Fetal Intestine Large	intestine
4	chr1:75202400-75231200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:75202400-75231200	Strong transcription	Adipose Nuclei	Adipose
6	chr1:75202400-75231200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:75202400-75231400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:75202800-75225600	Strong transcription	Fetal Muscle Trunk	muscle
9	chr1:75204000-75231400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:75204000-75231400	Weak transcription	Psoas Muscle	Psoas
11	chr1:75205200-75232400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr1:75206200-75232400	Weak transcription	Small Intestine	intestine
13	chr1:75206200-75232800	Weak transcription	NHLF	lung
14	chr1:75206800-75230600	Weak transcription	Pancreas	Pancrea
15	chr1:75206800-75233600	Weak transcription	Gastric	stomach
16	chr1:75207600-75233400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr1:75209400-75228600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:75210600-75229000	Weak transcription	Brain Angular Gyrus	brain
19	chr1:75211000-75232000	Weak transcription	Colonic Mucosa	Colon
20	chr1:75213400-75227600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:75214400-75225400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr1:75214400-75225800	Strong transcription	Ovary	ovary
23	chr1:75214400-75228200	Strong transcription	Primary T cells from cord blood	blood
24	chr1:75214400-75232200	Strong transcription	Liver	Liver
25	chr1:75214600-75225000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr1:75214600-75225600	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr1:75214600-75226400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:75214600-75227000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr1:75214800-75227800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:75214800-75228200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:75214800-75228600	Strong transcription	Stomach Smooth Muscle	stomach
32	chr1:75215200-75225000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:75215200-75231800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:75216000-75235200	Weak transcription	Right Ventricle	heart
35	chr1:75216400-75225600	Strong transcription	Primary B cells from cord blood	blood
36	chr1:75216800-75226000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:75217400-75225600	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:75218400-75224600	Strong transcription	HUVEC	blood vessel
39	chr1:75219200-75231000	Weak transcription	Lung	lung
40	chr1:75219200-75233400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr1:75219800-75232400	Weak transcription	Colon Smooth Muscle	Colon
42	chr1:75219800-75232600	Weak transcription	K562	blood
43	chr1:75220000-75230600	Weak transcription	Fetal Heart	heart
44	chr1:75220000-75231000	Weak transcription	Hela-S3	cervix
45	chr1:75220200-75228000	Strong transcription	Left Ventricle	heart
46	chr1:75220600-75225000	Strong transcription	Fetal Kidney	kidney
47	chr1:75220600-75225600	Strong transcription	Brain Hippocampus Middle	brain
48	chr1:75220800-75230800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:75221000-75225400	Strong transcription	Rectal Smooth Muscle	rectum
50	chr1:75221200-75224600	Weak transcription	HMEC	breast

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