Variant report

Variant	rs4718405
Chromosome Location	chr7:66254646-66254647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10215132	0.80[EUR][1000 genomes]
rs10215516	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10234018	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10249404	0.81[EUR][1000 genomes]
rs10252765	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10263935	0.86[EUR][1000 genomes]
rs10272357	0.81[EUR][1000 genomes]
rs10272546	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10274773	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10278371	0.81[EUR][1000 genomes]
rs10281080	0.81[EUR][1000 genomes]
rs10950044	0.81[EUR][1000 genomes]
rs1110414	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11765356	0.81[EUR][1000 genomes]
rs11768727	0.87[EUR][1000 genomes]
rs11772264	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11772636	0.88[EUR][1000 genomes]
rs11773829	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1553609	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1553610	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17566701	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1860468	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1860470	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1961155	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1968127	0.81[EUR][1000 genomes]
rs2003301	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2055682	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191268	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2286683	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2286684	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2420824	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2420827	0.85[ASN][1000 genomes]
rs2659888	0.86[ASN][1000 genomes]
rs2659889	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2659899	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2659906	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2659909	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2659912	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2659915	0.88[EUR][1000 genomes]
rs2659916	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2707822	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2707827	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2707836	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2707841	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2707845	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2707849	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2707850	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2707852	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2707853	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2707854	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2707856	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28830215	0.81[EUR][1000 genomes]
rs3069894	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34356500	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35130766	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35526611	0.85[EUR][1000 genomes]
rs35986979	0.86[EUR][1000 genomes]
rs3764903	0.87[EUR][1000 genomes]
rs3778909	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800812	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3800820	0.86[EUR][1000 genomes]
rs3800823	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3857688	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4273746	0.88[EUR][1000 genomes]
rs4279493	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4717310	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4717319	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718403	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62466793	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466794	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62467857	0.86[EUR][1000 genomes]
rs6460305	0.81[EUR][1000 genomes]
rs6460308	0.84[EUR][1000 genomes]
rs6943696	0.81[EUR][1000 genomes]
rs6949912	0.81[EUR][1000 genomes]
rs6958520	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6960778	0.83[EUR][1000 genomes]
rs6965056	0.81[EUR][1000 genomes]
rs6979488	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71563125	0.81[EUR][1000 genomes]
rs7779971	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7782320	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7783924	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7785213	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7788576	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7789184	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7789419	0.81[EUR][1000 genomes]
rs7793569	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7807930	0.86[EUR][1000 genomes]
rs7807944	0.86[EUR][1000 genomes]
rs9791890	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs4718405	RP4-756H11.3	cis	Artery Tibial	GTEx
rs4718405	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs4718405	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs4718405	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs4718405	RP4-756H11.3	cis	Stomach	GTEx
rs4718405	RP4-756H11.3	cis	Whole Blood	GTEx
rs4718405	RP4-756H11.3	cis	Thyroid	GTEx
rs4718405	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs4718405	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs4718405	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs4718405	RP4-756H11.3	cis	lung	GTEx
rs4718405	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs4718405	RP4-756H11.3	cis	Artery Aorta	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:66231400-66255000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:66232600-66279800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:66234800-66275800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:66235200-66261400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:66235400-66255400	Weak transcription	Fetal Heart	heart
7	chr7:66236000-66259000	Strong transcription	NHDF-Ad	bronchial
8	chr7:66236800-66265200	Strong transcription	Primary B cells from peripheral blood	blood
9	chr7:66236800-66276800	Strong transcription	Dnd41	blood
10	chr7:66236800-66277000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:66236800-66278400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr7:66237200-66262400	Weak transcription	Fetal Brain Male	brain
13	chr7:66237200-66277600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:66238200-66276600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr7:66238600-66255200	Weak transcription	Stomach Mucosa	stomach
16	chr7:66239800-66254800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:66240400-66260000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:66241000-66254800	Weak transcription	A549	lung
19	chr7:66242000-66255200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:66242200-66254800	Weak transcription	Aorta	Aorta
21	chr7:66242200-66254800	Weak transcription	Spleen	Spleen
22	chr7:66242200-66255000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr7:66242200-66255000	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:66242200-66255400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:66242200-66260000	Weak transcription	Psoas Muscle	Psoas
26	chr7:66242400-66262600	Weak transcription	Colonic Mucosa	Colon
27	chr7:66243400-66255000	Weak transcription	Brain Germinal Matrix	brain
28	chr7:66243600-66255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:66243600-66263200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr7:66244000-66254800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:66245600-66279200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:66245600-66279400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:66245800-66260400	Weak transcription	HUVEC	blood vessel
34	chr7:66246200-66256000	Weak transcription	Hela-S3	cervix
35	chr7:66246200-66277800	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:66246200-66279800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:66246400-66256400	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr7:66246800-66261400	Weak transcription	Esophagus	oesophagus
39	chr7:66247000-66254800	Weak transcription	Right Ventricle	heart
40	chr7:66247000-66254800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:66247000-66254800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:66247000-66255000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:66247000-66260800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:66247200-66255200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr7:66247600-66254800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr7:66247600-66261000	Weak transcription	Brain Substantia Nigra	brain
47	chr7:66247800-66254800	Weak transcription	Gastric	stomach
48	chr7:66247800-66254800	Weak transcription	GM12878-XiMat	blood
49	chr7:66247800-66255000	Weak transcription	Pancreas	Pancrea
50	chr7:66248200-66255200	Weak transcription	HMEC	breast

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