Variant report

Variant	rs778721
Chromosome Location	chr7:65845397-65845398
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 123 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs1002053	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10215948	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10257427	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10267430	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10755833	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10950041	0.84[EUR][1000 genomes]
rs11765965	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12532998	0.86[EUR][1000 genomes]
rs12533997	0.86[EUR][1000 genomes]
rs12535036	0.85[EUR][1000 genomes]
rs12668936	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12673810	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12698520	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12698521	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12698523	0.86[EUR][1000 genomes]
rs12698532	0.83[EUR][1000 genomes]
rs13227219	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13309022	0.86[EUR][1000 genomes]
rs1363055	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1565531	0.85[EUR][1000 genomes]
rs1643395	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1695815	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1807064	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1833495	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1968225	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1974769	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1981798	0.81[EUR][1000 genomes]
rs1981799	0.83[EUR][1000 genomes]
rs2036264	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2042133	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2077593	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2161065	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2173570	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2277911	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2420591	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2420599	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28682868	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34406470	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35028832	0.85[EUR][1000 genomes]
rs35149210	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3735148	0.85[EUR][1000 genomes]
rs3857684	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3935391	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3981131	0.85[EUR][1000 genomes]
rs4717292	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4717299	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4717300	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4718343	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718344	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4718349	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4718357	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4718358	0.81[EUR][1000 genomes]
rs55748098	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60193905	0.84[EUR][1000 genomes]
rs6460291	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6460292	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6460295	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6460296	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6460300	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6945019	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6945032	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6945843	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6949920	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6956179	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6957199	0.84[EUR][1000 genomes]
rs6958271	0.84[EUR][1000 genomes]
rs6958277	0.83[EUR][1000 genomes]
rs6960476	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6961155	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6961990	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6963646	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6967996	0.81[AMR][1000 genomes]
rs6970030	0.85[EUR][1000 genomes]
rs6970357	0.86[EUR][1000 genomes]
rs6970860	0.84[EUR][1000 genomes]
rs6971509	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6977501	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6978429	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6978721	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6979382	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs709595	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs709597	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7781061	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7781698	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7783613	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778682	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs778685	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778689	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs778692	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778694	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778695	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs778699	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778700	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs778706	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs778708	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs778709	0.94[EUR][1000 genomes]
rs778710	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs778712	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778723	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778726	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs778727	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs778731	0.86[ASN][1000 genomes]
rs778735	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7788984	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7789554	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7789768	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7791891	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7794930	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7799834	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7803416	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7803424	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs937495	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9691480	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9791895	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9969301	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9986696	0.83[AMR][1000 genomes];0.86[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	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	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv970513	chr7:65842694-65860742	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv981506	chr7:65842694-65876873	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs778721	GS1-124K5.4	cis	Stomach	GTEx
rs778721	RP4-756H11.3	cis	Artery Aorta	GTEx
rs778721	RP4-756H11.3	cis	lung	GTEx
rs778721	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs778721	GS1-124K5.4	cis	Whole Blood	GTEx
rs778721	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs778721	GTF2IRD1P1	cis	Thyroid	GTEx
rs778721	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs778721	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs778721	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs778721	RNU6-96P	cis	Thyroid	GTEx
rs778721	RP4-756H11.3	cis	Thyroid	GTEx
rs778721	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs778721	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs778721	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs778721	GS1-124K5.11	cis	Thyroid	GTEx
rs778721	RP4-756H11.3	cis	Artery Tibial	GTEx
rs778721	GS1-124K5.4	cis	Artery Aorta	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65836600-65846400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:65840000-65878400	Weak transcription	Psoas Muscle	Psoas
3	chr7:65840400-65873400	Weak transcription	K562	blood
4	chr7:65840600-65858400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr7:65841200-65847600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:65841400-65875400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:65841800-65845400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:65842400-65867800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:65842600-65845400	Strong transcription	Fetal Intestine Large	intestine
10	chr7:65842600-65845400	Strong transcription	Pancreas	Pancrea
11	chr7:65842600-65845600	Strong transcription	Gastric	stomach
12	chr7:65842600-65846800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr7:65842800-65845600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:65842800-65845600	Strong transcription	Brain Hippocampus Middle	brain
15	chr7:65842800-65845800	Strong transcription	Liver	Liver
16	chr7:65843200-65845400	Strong transcription	Brain Cingulate Gyrus	brain
17	chr7:65843200-65847200	Weak transcription	Fetal Brain Male	brain
18	chr7:65843400-65877600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:65843600-65845600	ZNF genes & repeats	Fetal Stomach	stomach
20	chr7:65843600-65878200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:65843800-65845400	Strong transcription	Primary T cells from cord blood	blood
22	chr7:65843800-65845400	Strong transcription	Brain Angular Gyrus	brain
23	chr7:65843800-65845600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr7:65843800-65845600	Strong transcription	Brain Substantia Nigra	brain
25	chr7:65843800-65845600	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr7:65843800-65851000	Weak transcription	GM12878-XiMat	blood
27	chr7:65844000-65845400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr7:65844000-65845600	Strong transcription	Fetal Thymus	thymus
29	chr7:65844000-65846200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:65844000-65846400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:65844000-65846400	Enhancers	HMEC	breast
32	chr7:65844000-65878400	Weak transcription	Thymus	Thymus
33	chr7:65844200-65845600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:65844200-65845600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr7:65844200-65845600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr7:65844200-65845600	ZNF genes & repeats	Ovary	ovary
37	chr7:65844200-65846200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:65844200-65846200	Enhancers	NHDF-Ad	bronchial
39	chr7:65844400-65845400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
40	chr7:65844400-65845600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
41	chr7:65844400-65845600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr7:65844400-65845600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
43	chr7:65844400-65845600	Enhancers	HUVEC	blood vessel
44	chr7:65844400-65845800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:65844600-65845400	ZNF genes & repeats	Adipose Nuclei	Adipose
46	chr7:65844600-65845400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:65844600-65845400	ZNF genes & repeats	Fetal Brain Female	brain
48	chr7:65844600-65845600	Strong transcription	Primary B cells from cord blood	blood
49	chr7:65844600-65845600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr7:65844600-65845600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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