Variant report

Variant	rs10277713
Chromosome Location	chr7:79757867-79757868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10236183	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10244538	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266446	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530885	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12706640	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17153463	0.81[EUR][1000 genomes]
rs2015430	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2078181	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35290068	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs717114	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717115	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7458626	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10277713	GNAI1	cis	cerebellum	SCAN
rs10277713	TMEM60	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79754400-79758800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:79754400-79762000	Weak transcription	Fetal Thymus	thymus
3	chr7:79754600-79758000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:79754600-79758200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:79755200-79758600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:79755400-79758400	Enhancers	Brain Anterior Caudate	brain
7	chr7:79755400-79758600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:79755600-79758000	Enhancers	Brain Substantia Nigra	brain
9	chr7:79755600-79758200	Enhancers	Brain Hippocampus Middle	brain
10	chr7:79755600-79758600	Enhancers	Brain Cingulate Gyrus	brain
11	chr7:79755800-79758000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:79755800-79758200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr7:79756000-79758000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:79756000-79758400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr7:79756000-79758800	Enhancers	Primary hematopoietic stem cells	blood
16	chr7:79756200-79758000	Enhancers	Brain Angular Gyrus	brain
17	chr7:79756200-79758200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr7:79756200-79758600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr7:79756600-79758200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:79756600-79758400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:79756800-79758800	Enhancers	Placenta	Placenta
22	chr7:79757000-79758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:79757200-79758400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:79757400-79758200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
25	chr7:79757400-79761400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:79757400-79761600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:79757400-79761600	Weak transcription	HMEC	breast
28	chr7:79757600-79758000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
29	chr7:79757600-79758600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr7:79757600-79758800	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:79757600-79763200	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:79757600-79763400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:79757600-79763400	Weak transcription	Brain Germinal Matrix	brain
34	chr7:79757600-79763600	Weak transcription	Liver	Liver
35	chr7:79757800-79758200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
36	chr7:79757800-79758400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
37	chr7:79757800-79763400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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