Variant report

Variant	rs1725067
Chromosome Location	chr7:121734934-121734935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1206361	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206362	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1206371	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1206372	0.82[CEU][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1206375	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206378	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12706384	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13223149	0.98[EUR][1000 genomes]
rs13225749	0.81[GIH][hapmap]
rs13232539	1.00[EUR][1000 genomes]
rs1405236	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1405237	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2215358	0.82[CEU][hapmap];0.93[EUR][1000 genomes]
rs279665	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs279670	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs279673	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs279676	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs279679	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs279680	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs279689	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs279700	0.82[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs279701	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs279707	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[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	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1725067	GNG11	trans	lymphoblastoid	seeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121685000-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:121703400-121755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:121715200-121740200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:121715400-121752000	Weak transcription	NH-A	brain
5	chr7:121715800-121735200	Weak transcription	Spleen	Spleen
6	chr7:121716000-121738400	Weak transcription	Brain Angular Gyrus	brain
7	chr7:121716000-121772000	Weak transcription	Osteobl	bone
8	chr7:121716000-121775600	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:121716200-121741000	Weak transcription	HSMM	muscle
10	chr7:121716200-121758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:121717600-121743200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr7:121717800-121744400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:121718000-121740200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:121718000-121746800	Weak transcription	Brain Anterior Caudate	brain
15	chr7:121718000-121754200	Weak transcription	Placenta	Placenta
16	chr7:121718000-121754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:121718000-121754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:121718000-121756200	Weak transcription	Pancreas	Pancrea
19	chr7:121718200-121755000	Weak transcription	NHDF-Ad	bronchial
20	chr7:121718600-121742200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:121718800-121738200	Weak transcription	Fetal Intestine Small	intestine
22	chr7:121719000-121741800	Weak transcription	Psoas Muscle	Psoas
23	chr7:121719200-121751800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:121719400-121743200	Weak transcription	Brain Substantia Nigra	brain
25	chr7:121719400-121747400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:121719800-121743000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:121719800-121747200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:121721600-121741000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr7:121722000-121755000	Weak transcription	HUVEC	blood vessel
30	chr7:121723400-121743000	Weak transcription	Fetal Heart	heart
31	chr7:121725400-121740400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:121725800-121740000	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:121725800-121740200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:121725800-121741200	Weak transcription	Fetal Brain Female	brain
35	chr7:121725800-121742200	Weak transcription	Brain Germinal Matrix	brain
36	chr7:121725800-121758400	Weak transcription	HSMMtube	muscle
37	chr7:121726000-121774400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:121726000-121776000	Weak transcription	Fetal Stomach	stomach
39	chr7:121726200-121737200	Weak transcription	Esophagus	oesophagus
40	chr7:121726200-121740800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:121726200-121743200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:121726200-121744400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:121726400-121739800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:121726400-121740000	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr7:121726400-121741000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr7:121726400-121743200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:121729200-121740000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr7:121730000-121740000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:121730000-121744400	Weak transcription	Lung	lung
50	chr7:121730400-121749400	Weak transcription	Fetal Kidney	kidney

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