Variant report

Variant	rs10276981
Chromosome Location	chr7:79845962-79845963
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10234223	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10241877	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10247757	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10248135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10268519	0.82[GIH][hapmap]
rs10268773	0.83[GIH][hapmap]
rs10278243	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12706718	0.84[ASN][1000 genomes]
rs12721455	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17245731	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17806203	0.82[GIH][hapmap]
rs2366255	0.86[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap]
rs28647788	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3801357	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4731273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67096317	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs73151419	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10276981	GNAI1	cis	parietal	SCAN
rs10276981	GNAI1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79809600-79847600	Weak transcription	HUVEC	blood vessel
2	chr7:79815000-79848200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:79815000-79850200	Weak transcription	Lung	lung
4	chr7:79815200-79859600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:79816200-79846800	Weak transcription	Esophagus	oesophagus
6	chr7:79816400-79854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:79817000-79851200	Weak transcription	Aorta	Aorta
8	chr7:79820600-79847000	Weak transcription	NHLF	lung
9	chr7:79820600-79853800	Weak transcription	Left Ventricle	heart
10	chr7:79825000-79847400	Weak transcription	Pancreas	Pancrea
11	chr7:79825400-79856600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:79829200-79846000	Weak transcription	Right Ventricle	heart
13	chr7:79829200-79853000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:79830800-79848400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr7:79831000-79848200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:79831000-79853800	Weak transcription	Gastric	stomach
17	chr7:79831600-79850800	Weak transcription	Fetal Stomach	stomach
18	chr7:79831800-79861200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:79832400-79855000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:79834000-79850600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:79836000-79859600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:79836600-79861000	Weak transcription	HSMMtube	muscle
23	chr7:79837800-79847600	Strong transcription	Primary hematopoietic stem cells	blood
24	chr7:79838000-79849400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:79838800-79850400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:79839200-79846800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:79839600-79850200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:79839800-79847000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:79840000-79853800	Weak transcription	Brain Anterior Caudate	brain
30	chr7:79840200-79846000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:79840200-79846800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:79840200-79847000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:79840200-79847000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:79840200-79847000	Strong transcription	Adipose Nuclei	Adipose
35	chr7:79840200-79847200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:79840200-79847200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:79840200-79849400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:79840200-79850400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:79840400-79846800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:79840400-79846800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:79840400-79847000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:79840400-79851600	Weak transcription	Small Intestine	intestine
43	chr7:79840600-79846600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr7:79840800-79848000	Weak transcription	Hela-S3	cervix
45	chr7:79840800-79850400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:79841000-79847000	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr7:79841200-79847200	Strong transcription	HMEC	breast
48	chr7:79841200-79853800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:79841200-79854000	Weak transcription	Fetal Intestine Small	intestine
50	chr7:79842800-79848200	Weak transcription	NH-A	brain

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