Variant report

Variant	rs778735
Chromosome Location	chr7:65814809-65814810
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs1000464	0.89[AFR][1000 genomes]
rs1002053	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215948	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10224872	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10228885	0.81[AFR][1000 genomes]
rs10240949	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10257427	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10261398	0.84[AFR][1000 genomes]
rs10267430	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10755833	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10950033	0.82[AFR][1000 genomes]
rs10950041	0.81[EUR][1000 genomes]
rs11760844	0.82[AFR][1000 genomes]
rs11765965	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11974219	0.82[EUR][1000 genomes]
rs11974264	0.82[EUR][1000 genomes]
rs12532998	0.83[EUR][1000 genomes]
rs12533997	0.83[EUR][1000 genomes]
rs12535036	0.82[EUR][1000 genomes]
rs12668936	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12673810	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12698520	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12698521	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12698523	0.83[EUR][1000 genomes]
rs13225383	0.81[EUR][1000 genomes]
rs13227219	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13309022	0.83[EUR][1000 genomes]
rs1363055	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1565531	0.91[EUR][1000 genomes]
rs1643395	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1695815	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1807064	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1833495	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1968225	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1974769	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1981799	0.80[EUR][1000 genomes]
rs2036263	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2036264	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042133	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2077593	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2161065	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2173570	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277911	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2420591	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2420599	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28682868	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34406470	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35028832	0.91[EUR][1000 genomes]
rs35149210	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3735148	0.82[EUR][1000 genomes]
rs3857684	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3935391	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3981131	0.84[EUR][1000 genomes]
rs4078376	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4149461	0.84[AFR][1000 genomes]
rs4236208	0.81[AFR][1000 genomes]
rs4587224	0.82[AFR][1000 genomes]
rs4717292	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4717299	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4717300	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4718343	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718344	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718349	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4718357	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55748098	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60193905	0.81[EUR][1000 genomes]
rs6460290	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6460291	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6460292	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460293	0.81[AFR][1000 genomes]
rs6460295	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6460296	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6460300	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6945019	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6945032	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6945843	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6949920	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6956179	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6957199	0.81[EUR][1000 genomes]
rs6958271	0.81[EUR][1000 genomes]
rs6958277	0.80[EUR][1000 genomes]
rs6959268	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6960476	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6961155	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6961990	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6963646	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6970030	0.82[EUR][1000 genomes]
rs6970357	0.83[EUR][1000 genomes]
rs6970860	0.81[EUR][1000 genomes]
rs6971509	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6971752	0.84[AFR][1000 genomes]
rs6977501	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6978429	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6978721	0.83[EUR][1000 genomes]
rs6979382	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs709595	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs709596	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs709597	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7781061	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7781698	0.83[EUR][1000 genomes]
rs7782704	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7783613	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs778680	0.81[AMR][1000 genomes]
rs778682	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs778684	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs778685	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs778686	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs778689	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778692	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778694	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778695	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs778699	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778700	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778706	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs778708	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778709	0.88[EUR][1000 genomes]
rs778710	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778712	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs778721	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778723	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs778724	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs778726	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs778727	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778728	0.82[AMR][1000 genomes]
rs778731	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs778734	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs778736	0.82[AFR][1000 genomes]
rs7788984	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7789554	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7789768	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7791891	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7794930	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7799834	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7803416	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7803424	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs937495	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs949930	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9691480	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9791895	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9969301	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9986696	0.90[AMR][1000 genomes];0.93[EUR][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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	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
3	nsv508458	chr7:65724222-65842639	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1034195	chr7:65743409-65828266	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs778735	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs778735	GS1-124K5.11	cis	Thyroid	GTEx
rs778735	GS1-124K5.4	cis	Artery Aorta	GTEx
rs778735	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs778735	RP4-756H11.3	cis	Thyroid	GTEx
rs778735	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs778735	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs778735	RNU6-96P	cis	Thyroid	GTEx
rs778735	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs778735	GS1-124K5.4	cis	Whole Blood	GTEx
rs778735	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs778735	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs778735	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs778735	RP4-756H11.3	cis	lung	GTEx
rs778735	RP4-756H11.3	cis	Artery Tibial	GTEx
rs778735	GTF2IRD1P1	cis	Thyroid	GTEx
rs778735	RP4-756H11.3	cis	Artery Aorta	GTEx
rs778735	GS1-124K5.4	cis	Stomach	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65805200-65843600	Weak transcription	Aorta	Aorta
2	chr7:65809600-65817000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:65809600-65817000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:65809600-65818600	Weak transcription	Liver	Liver
5	chr7:65813000-65815000	Enhancers	Primary hematopoietic stem cells	blood
6	chr7:65813000-65815200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:65813400-65815000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:65813400-65815000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr7:65813400-65815000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:65813400-65815000	Enhancers	HMEC	breast
11	chr7:65813400-65821200	Weak transcription	Fetal Stomach	stomach
12	chr7:65813600-65815000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:65813600-65815200	Enhancers	NHEK	skin
14	chr7:65813800-65820600	Weak transcription	Fetal Intestine Small	intestine
15	chr7:65814000-65815000	Enhancers	Esophagus	oesophagus
16	chr7:65814000-65817200	Weak transcription	Fetal Kidney	kidney
17	chr7:65814000-65817200	Weak transcription	HepG2	liver
18	chr7:65814000-65843800	Weak transcription	Brain Angular Gyrus	brain
19	chr7:65814200-65815000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr7:65814200-65817000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:65814200-65817000	Weak transcription	Ovary	ovary
22	chr7:65814200-65817000	Weak transcription	Osteobl	bone
23	chr7:65814200-65817200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:65814200-65817200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:65814200-65817200	Weak transcription	HSMMtube	muscle
26	chr7:65814200-65823800	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:65814400-65815000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:65814400-65815000	Enhancers	Lung	lung
29	chr7:65814400-65815200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:65814600-65815000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:65814600-65815200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:65814800-65815000	Enhancers	Pancreas	Pancrea
33	chr7:65814800-65817000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:65814800-65817000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:65814800-65817000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:65814800-65817000	Weak transcription	Adipose Nuclei	Adipose
37	chr7:65814800-65817200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:65814800-65818200	Weak transcription	Placenta	Placenta

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