Variant report

Variant	rs4718488
Chromosome Location	chr7:66692329-66692330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66691444..66695683-chr7:66701018..66704715,3	K562	blood:

Extended variants
information (count: 104 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10230059	0.80[AMR][1000 genomes]
rs10242431	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10246623	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10248812	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10257403	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10261694	0.91[AMR][1000 genomes]
rs10262065	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1045053	0.89[AMR][1000 genomes]
rs1045064	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1045174	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11762199	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs11764349	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11768675	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11771408	0.91[AMR][1000 genomes]
rs12154252	0.91[AMR][1000 genomes]
rs12154886	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12155261	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13228872	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13236735	0.90[AMR][1000 genomes]
rs13236943	0.89[AMR][1000 genomes]
rs13239980	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1581502	0.83[AMR][1000 genomes]
rs17726	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1815101	0.81[AMR][1000 genomes]
rs2177496	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2421425	0.83[AMR][1000 genomes]
rs28373153	0.85[AMR][1000 genomes]
rs28420076	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28464901	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28497071	0.80[AMR][1000 genomes]
rs28502004	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28556313	0.80[AMR][1000 genomes]
rs28621376	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28749249	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28750410	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28759371	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28764821	0.86[AMR][1000 genomes]
rs28767482	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34145957	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34237838	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34267978	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34471265	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34773993	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35325827	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35399585	0.80[AMR][1000 genomes]
rs35507085	0.84[AMR][1000 genomes]
rs35599428	0.83[AMR][1000 genomes]
rs35649461	0.80[AMR][1000 genomes]
rs35669114	0.80[AMR][1000 genomes]
rs3897072	0.80[AMR][1000 genomes]
rs4383874	0.81[AMR][1000 genomes]
rs4504527	0.81[AMR][1000 genomes]
rs4524666	0.83[AMR][1000 genomes]
rs4718486	0.87[AMR][1000 genomes]
rs4718492	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4718493	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4718500	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4718501	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56167042	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56397344	0.89[AMR][1000 genomes]
rs56785837	0.85[AMR][1000 genomes]
rs58848117	0.85[AMR][1000 genomes]
rs59194611	0.84[AMR][1000 genomes]
rs61404757	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6460333	0.80[AMR][1000 genomes]
rs66806481	0.80[AMR][1000 genomes]
rs66870123	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66954241	0.80[AMR][1000 genomes]
rs66988535	0.87[AMR][1000 genomes]
rs67902540	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6942913	0.81[AMR][1000 genomes]
rs6944637	0.90[AMR][1000 genomes]
rs6944968	0.93[AMR][1000 genomes]
rs6947110	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6948757	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6951468	0.80[AMR][1000 genomes]
rs6952206	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6961084	0.80[AMR][1000 genomes]
rs6962901	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6969270	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6979706	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71563196	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73142680	0.80[AMR][1000 genomes]
rs73144526	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7357171	0.82[AMR][1000 genomes]
rs7778900	0.91[AMR][1000 genomes]
rs7779069	0.81[AMR][1000 genomes]
rs7792907	0.83[AMR][1000 genomes]
rs7795390	0.81[AMR][1000 genomes]
rs7795976	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7801032	0.84[AMR][1000 genomes]
rs7809415	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7811233	0.83[AMR][1000 genomes]
rs9654859	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9690083	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs9691404	0.90[AMR][1000 genomes]
rs9692279	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9769387	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv831019	chr7:66516808-66720485	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1032237	chr7:66644492-66785029	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv970518	chr7:66647675-66742783	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4718488	TYW1	cis	Esophagus Mucosa	GTEx
rs4718488	TYW1	cis	Muscle Skeletal	GTEx
rs4718488	TYW1	cis	Heart Left Ventricle	GTEx
rs4718488	TYW1	cis	Nerve Tibial	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66654600-66704600	Weak transcription	Gastric	stomach
2	chr7:66654600-66709600	Weak transcription	Lung	lung
3	chr7:66658000-66703200	Weak transcription	Ovary	ovary
4	chr7:66660600-66701600	Weak transcription	Fetal Kidney	kidney
5	chr7:66660600-66703000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr7:66665600-66706800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:66665800-66703400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:66667800-66738400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:66670600-66713800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:66675800-66693800	Weak transcription	Fetal Lung	lung
11	chr7:66675800-66706600	Weak transcription	Aorta	Aorta
12	chr7:66675800-66706800	Weak transcription	Primary T cells from cord blood	blood
13	chr7:66676000-66702800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:66685000-66717000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr7:66687000-66706800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:66687800-66696000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr7:66688200-66706800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:66688400-66694600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:66688400-66696400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:66688400-66708200	Weak transcription	Dnd41	blood
21	chr7:66688400-66710000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:66688800-66696200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:66688800-66701000	Weak transcription	Left Ventricle	heart
24	chr7:66688800-66701400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr7:66688800-66703800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr7:66688800-66716600	Weak transcription	Fetal Intestine Large	intestine
27	chr7:66689000-66694200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:66690600-66693000	Weak transcription	Fetal Intestine Small	intestine
29	chr7:66690600-66706000	Weak transcription	Primary B cells from cord blood	blood
30	chr7:66690800-66692400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:66691000-66701000	Weak transcription	Fetal Stomach	stomach
32	chr7:66691400-66705000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr7:66691600-66694200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:66691600-66702600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:66691600-66716400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:66691800-66701200	Weak transcription	Psoas Muscle	Psoas
37	chr7:66691800-66716200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:66691800-66716400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:66692000-66693800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:66692000-66694400	Weak transcription	Adipose Nuclei	Adipose
41	chr7:66692000-66694600	Weak transcription	HepG2	liver
42	chr7:66692000-66700000	Weak transcription	HSMM	muscle
43	chr7:66692000-66701000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:66692000-66707600	Weak transcription	Osteobl	bone
45	chr7:66692000-66708000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr7:66692000-66710600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr7:66692200-66694800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:66692200-66695800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:66692200-66703600	Weak transcription	K562	blood

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