Variant report

Variant	rs12530885
Chromosome Location	chr7:79756155-79756156
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:79749208..79750718-chr7:79754504..79757482,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10236183	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10244538	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10266446	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10277713	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10486926	0.80[EUR][1000 genomes]
rs12706640	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17153463	0.86[EUR][1000 genomes]
rs2015430	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078181	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35290068	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731234	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs717114	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs717115	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7458626	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][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	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	nsv1027494	chr7:79693976-79760332	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12530885	GNAI1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79749000-79756600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:79754200-79756200	Weak transcription	Brain Angular Gyrus	brain
3	chr7:79754400-79758800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr7:79754400-79762000	Weak transcription	Fetal Thymus	thymus
5	chr7:79754600-79757200	Weak transcription	Dnd41	blood
6	chr7:79754600-79758000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:79754600-79758200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr7:79755200-79758600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:79755400-79758400	Enhancers	Brain Anterior Caudate	brain
10	chr7:79755400-79758600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:79755600-79757400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
12	chr7:79755600-79758000	Enhancers	Brain Substantia Nigra	brain
13	chr7:79755600-79758200	Enhancers	Brain Hippocampus Middle	brain
14	chr7:79755600-79758600	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:79755800-79756400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr7:79755800-79756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:79755800-79757400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:79755800-79758000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:79755800-79758200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr7:79756000-79756400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
21	chr7:79756000-79757600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:79756000-79758000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:79756000-79758400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr7:79756000-79758800	Enhancers	Primary hematopoietic stem cells	blood

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