Variant report

Variant	rs9690756
Chromosome Location	chr7:128271503-128271504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 28 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10085580	0.81[AMR][1000 genomes]
rs10215560	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10215566	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10215947	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10229874	0.82[AMR][1000 genomes]
rs10237278	0.82[AMR][1000 genomes]
rs10954193	0.82[AMR][1000 genomes]
rs10954194	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10954195	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11971248	0.80[EUR][1000 genomes]
rs11977129	0.80[EUR][1000 genomes]
rs11979586	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12670258	0.80[EUR][1000 genomes]
rs12670271	0.80[EUR][1000 genomes]
rs12671767	0.80[EUR][1000 genomes]
rs12672529	0.80[EUR][1000 genomes]
rs12672576	0.80[EUR][1000 genomes]
rs12673998	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13438170	0.82[AMR][1000 genomes]
rs17169024	0.80[EUR][1000 genomes]
rs17533628	0.80[EUR][1000 genomes]
rs1809082	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1970827	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1970828	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2044834	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2402907	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34614236	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34648516	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35394926	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3857849	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3896308	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3927852	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3931943	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3958079	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4079001	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4079003	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4260830	0.82[AMR][1000 genomes]
rs4562239	0.81[AMR][1000 genomes]
rs4579449	0.80[AMR][1000 genomes]
rs4731484	0.82[AMR][1000 genomes]
rs4731486	0.82[AMR][1000 genomes]
rs4731488	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4731492	0.81[EUR][1000 genomes]
rs4731493	0.80[EUR][1000 genomes]
rs4731496	0.81[EUR][1000 genomes]
rs55860694	0.82[AMR][1000 genomes]
rs55978216	0.80[EUR][1000 genomes]
rs56052829	0.82[AMR][1000 genomes]
rs56060467	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56111366	0.82[AMR][1000 genomes]
rs56189614	0.82[AMR][1000 genomes]
rs56278047	0.82[AMR][1000 genomes]
rs56916616	0.80[EUR][1000 genomes]
rs56946745	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57226192	0.83[AMR][1000 genomes]
rs57370656	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59154282	0.82[AMR][1000 genomes]
rs61318942	0.80[EUR][1000 genomes]
rs62479751	0.82[AMR][1000 genomes]
rs62479757	0.82[AMR][1000 genomes]
rs62481868	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62481869	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62481873	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62481883	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62481890	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62481892	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62481895	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62481897	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62481901	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62481902	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62481906	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62481907	0.81[AMR][1000 genomes]
rs62481926	0.82[AMR][1000 genomes]
rs62481939	0.80[EUR][1000 genomes]
rs62481940	0.80[EUR][1000 genomes]
rs62483342	0.82[AMR][1000 genomes]
rs62483348	0.81[AMR][1000 genomes]
rs6467185	0.82[AMR][1000 genomes]
rs6467186	0.82[AMR][1000 genomes]
rs6467188	0.82[AMR][1000 genomes]
rs6467189	0.82[AMR][1000 genomes]
rs6467194	0.80[AMR][1000 genomes]
rs6467195	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6467204	0.80[EUR][1000 genomes]
rs6945532	0.80[EUR][1000 genomes]
rs6969462	0.80[EUR][1000 genomes]
rs6969554	0.80[EUR][1000 genomes]
rs6973969	0.80[EUR][1000 genomes]
rs6978887	0.80[EUR][1000 genomes]
rs73236020	0.80[EUR][1000 genomes]
rs7385007	0.82[AMR][1000 genomes]
rs7385683	0.84[AMR][1000 genomes]
rs7792915	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7793136	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9690747	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9801409	0.84[AMR][1000 genomes];0.80[EUR][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	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv970938	chr7:128256300-128300276	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv971047	chr7:128266439-128278778	Weak transcription Strong transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:28)

SNP	Gene	Cis/trans	Tissue	Source
rs9690756	RP11-274B21.4	cis	Whole Blood	GTEx
rs9690756	RP11-274B21.4	cis	Thyroid	GTEx
rs9690756	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs9690756	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs9690756	RP11-274B21.4	cis	Esophagus Muscularis	GTEx
rs9690756	RP11-274B21.2	cis	Nerve Tibial	GTEx
rs9690756	RP11-274B21.1	cis	Whole Blood	GTEx
rs9690756	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx
rs9690756	RP11-274B21.4	cis	Stomach	GTEx
rs9690756	RP11-274B21.9	cis	Esophagus Mucosa	GTEx
rs9690756	RP11-274B21.1	cis	Esophagus Muscularis	GTEx
rs9690756	RP11-274B21.1	cis	lung	GTEx
rs9690756	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs9690756	RP11-274B21.1	cis	Muscle Skeletal	GTEx
rs9690756	RP11-274B21.2	cis	Skin Sun Exposed Lower leg	GTEx
rs9690756	RP11-274B21.1	cis	Artery Aorta	GTEx
rs9690756	RP11-274B21.4	cis	Esophagus Mucosa	GTEx
rs9690756	RP11-274B21.1	cis	Skin Sun Exposed Lower leg	GTEx
rs9690756	RP11-274B21.1	cis	Nerve Tibial	GTEx
rs9690756	RP11-274B21.1	cis	Thyroid	GTEx
rs9690756	RP11-274B21.4	cis	Artery Tibial	GTEx
rs9690756	RP11-274B21.4	cis	Muscle Skeletal	GTEx
rs9690756	RP11-274B21.2	cis	Muscle Skeletal	GTEx
rs9690756	RP11-274B21.2	cis	lung	GTEx
rs9690756	RP11-274B21.1	cis	Artery Tibial	GTEx
rs9690756	RP11-274B21.4	cis	lung	GTEx
rs9690756	RP11-274B21.4	cis	Skin Sun Exposed Lower leg	GTEx
rs9690756	RP11-274B21.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128233400-128272000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:128237800-128290400	Weak transcription	HepG2	liver
3	chr7:128239200-128287200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:128239200-128296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:128242600-128292800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:128246600-128284800	Weak transcription	Stomach Mucosa	stomach
7	chr7:128249600-128271800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:128249600-128272000	Weak transcription	Fetal Kidney	kidney
9	chr7:128249600-128278600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:128249600-128283200	Weak transcription	Hela-S3	cervix
11	chr7:128249600-128285800	Weak transcription	Fetal Heart	heart
12	chr7:128249600-128286800	Weak transcription	HSMMtube	muscle
13	chr7:128249600-128289000	Weak transcription	NHEK	skin
14	chr7:128249600-128293400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:128249600-128295200	Weak transcription	NH-A	brain
16	chr7:128249600-128297600	Weak transcription	HUVEC	blood vessel
17	chr7:128249600-128308400	Weak transcription	HSMM	muscle
18	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
19	chr7:128249600-128319600	Weak transcription	NHLF	lung
20	chr7:128250200-128274600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr7:128250200-128274800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:128252200-128287600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:128253800-128274000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:128254200-128272600	Strong transcription	Liver	Liver
25	chr7:128254200-128274600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:128254800-128276600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:128255200-128274600	Strong transcription	Placenta	Placenta
28	chr7:128255400-128274600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:128256000-128272600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:128256000-128274600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:128256400-128274600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:128256800-128288600	Weak transcription	Osteobl	bone
33	chr7:128257600-128274600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:128257600-128274600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr7:128257600-128274800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:128257800-128274800	Strong transcription	Fetal Stomach	stomach
37	chr7:128258600-128274600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:128258600-128287400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:128259200-128274600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:128260000-128296400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr7:128260200-128278600	Weak transcription	Dnd41	blood
42	chr7:128260400-128271800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:128260400-128278600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:128260400-128300600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr7:128260800-128273000	Weak transcription	Brain Angular Gyrus	brain
46	chr7:128261200-128277400	Weak transcription	Right Ventricle	heart
47	chr7:128261600-128271800	Weak transcription	Fetal Brain Female	brain
48	chr7:128261600-128278600	Weak transcription	Aorta	Aorta
49	chr7:128261800-128272000	Weak transcription	Brain Anterior Caudate	brain
50	chr7:128262200-128293200	Weak transcription	Brain Germinal Matrix	brain

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