Variant report

Variant	rs1206378
Chromosome Location	chr7:121712619-121712620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1206361	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1206362	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1206371	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206372	1.00[CEU][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1206375	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12706384	0.82[CEU][hapmap];0.98[EUR][1000 genomes]
rs13223149	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs13225749	0.81[GIH][hapmap]
rs13232539	0.98[EUR][1000 genomes]
rs1405236	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1405237	0.82[CEU][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1725067	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2215358	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs279665	0.82[CEU][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs279670	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs279673	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs279676	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs279679	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs279680	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs279689	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs279700	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs279701	0.84[ASW][hapmap];0.82[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs279707	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608334	chr7:121670522-121725961	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1206378	GNG11	trans	lymphoblastoid	seeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121651200-121717600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:121682400-121716600	Weak transcription	Brain Anterior Caudate	brain
3	chr7:121684400-121734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:121685000-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:121685200-121716800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:121685400-121725200	Weak transcription	NHEK	skin
7	chr7:121692200-121716800	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:121692400-121717200	Weak transcription	Brain Substantia Nigra	brain
9	chr7:121694400-121726000	Weak transcription	Fetal Brain Male	brain
10	chr7:121699400-121721000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:121700800-121716400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:121700800-121717000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:121700800-121721200	Weak transcription	Brain Germinal Matrix	brain
14	chr7:121701000-121714800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:121701000-121714800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:121701200-121719200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:121701400-121714200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:121701400-121714200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:121701400-121716600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:121703400-121755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:121704200-121714400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:121704200-121714600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:121704400-121713400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:121704400-121714000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:121704400-121714000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:121704400-121714200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:121704600-121725200	Weak transcription	HSMMtube	muscle
28	chr7:121705200-121717000	Weak transcription	Fetal Brain Female	brain
29	chr7:121705600-121714200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:121705600-121714800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:121705800-121724400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:121706000-121713200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:121707600-121717600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:121709200-121714800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:121709200-121717200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:121709400-121714000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:121711000-121716600	Weak transcription	Ovary	ovary
38	chr7:121711200-121717000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:121711400-121714800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:121711800-121713600	Weak transcription	Liver	Liver
41	chr7:121712000-121716000	Weak transcription	Left Ventricle	heart
42	chr7:121712200-121713800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:121712400-121714000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:121712400-121715000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:121712600-121714200	Weak transcription	Fetal Kidney	kidney
46	chr7:121712600-121716600	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:121712600-121717600	Weak transcription	Right Ventricle	heart

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