Variant report

Variant	rs73236051
Chromosome Location	chr7:128325355-128325356
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11972335	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11972414	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11973846	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11979987	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12668292	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12669878	0.83[EUR][1000 genomes]
rs12672216	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450875	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1839595	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2402932	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4448212	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4731485	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55854844	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56010148	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58210776	0.83[EUR][1000 genomes]
rs59475830	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59955357	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61031958	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61479217	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62481886	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62481894	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62481898	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62481925	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62481947	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62483299	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62483349	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62483350	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6946411	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6973650	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9689994	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9690750	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs73236051	RP11-274B21.4	cis	Nerve Tibial	GTEx
rs73236051	RP11-274B21.4	cis	Whole Blood	GTEx
rs73236051	RP11-274B21.1	cis	Adipose Subcutaneous	GTEx
rs73236051	RP11-274B21.2	cis	Adipose Subcutaneous	GTEx
rs73236051	RP11-274B21.4	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128294800-128328000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:128295400-128325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:128298600-128329200	Weak transcription	Pancreas	Pancrea
4	chr7:128302400-128337200	Weak transcription	Gastric	stomach
5	chr7:128302600-128327800	Weak transcription	Placenta	Placenta
6	chr7:128310000-128329400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:128311200-128327000	Weak transcription	HSMM	muscle
8	chr7:128311600-128327800	Weak transcription	Brain Substantia Nigra	brain
9	chr7:128312400-128325400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:128312600-128325400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:128313400-128329400	Weak transcription	Esophagus	oesophagus
12	chr7:128313400-128331200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr7:128313600-128327200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:128313600-128327600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:128313600-128337200	Weak transcription	Right Atrium	heart
16	chr7:128318200-128327600	Weak transcription	NHEK	skin
17	chr7:128318200-128328000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:128318400-128325800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:128319400-128328000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:128319800-128328000	Weak transcription	Fetal Intestine Small	intestine
21	chr7:128320200-128332000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:128320200-128337200	Weak transcription	NHLF	lung
23	chr7:128320400-128325400	Weak transcription	Right Ventricle	heart
24	chr7:128320400-128331000	Weak transcription	Brain Angular Gyrus	brain
25	chr7:128320400-128331000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:128320800-128329400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:128321000-128332000	Weak transcription	Fetal Brain Male	brain
28	chr7:128321400-128325600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:128321800-128325600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:128321800-128328000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:128322000-128325800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:128322000-128328000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:128322200-128328800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:128322200-128333000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:128322400-128326000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr7:128322600-128326400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:128322600-128328800	Weak transcription	Brain Germinal Matrix	brain
38	chr7:128322800-128325600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr7:128323000-128325600	Strong transcription	Fetal Stomach	stomach
40	chr7:128323000-128326600	Strong transcription	Adipose Nuclei	Adipose
41	chr7:128323200-128325600	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr7:128323400-128325600	Weak transcription	Brain Anterior Caudate	brain
43	chr7:128323400-128326400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:128323400-128326400	Weak transcription	NH-A	brain
45	chr7:128323400-128327000	Weak transcription	NHDF-Ad	bronchial
46	chr7:128323400-128327600	Weak transcription	HSMMtube	muscle
47	chr7:128323400-128337200	Weak transcription	Left Ventricle	heart
48	chr7:128324000-128326800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:128324200-128337200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr7:128324400-128325400	Weak transcription	Aorta	Aorta

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