Variant report

Variant	rs601671
Chromosome Location	chr7:79915776-79915777
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13224358	0.96[ASN][1000 genomes]
rs304732	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs306728	0.83[ASN][1000 genomes]
rs37919	0.94[CHB][hapmap];0.89[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs37921	0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs37929	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs37930	0.83[ASN][1000 genomes]
rs43222	0.81[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4731318	0.96[ASN][1000 genomes]
rs4731329	0.95[ASN][1000 genomes]
rs4731336	0.86[ASN][1000 genomes]
rs475103	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs493722	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs504540	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs579611	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs623820	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs673193	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv2761340	chr7:79905897-79922486	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs601671	GNAI1	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79907400-79916400	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:79908000-79916400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:79908000-79916600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:79908200-79916400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:79909400-79916400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:79913400-79922000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:79913600-79916800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:79914800-79916400	Weak transcription	Adipose Nuclei	Adipose
9	chr7:79914800-79917200	Weak transcription	NH-A	brain
10	chr7:79914800-79923400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:79915000-79916200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:79915000-79916400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:79915000-79917400	Weak transcription	Osteobl	bone
14	chr7:79915000-79923600	Weak transcription	NHLF	lung
15	chr7:79915200-79916600	Weak transcription	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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