Variant report

Variant	rs12671666
Chromosome Location	chr7:78397259-78397260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1015886	0.93[ASN][1000 genomes]
rs1207862	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1207868	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1207870	0.81[EUR][1000 genomes]
rs1207871	0.81[EUR][1000 genomes]
rs1207872	0.81[EUR][1000 genomes]
rs1207874	0.81[EUR][1000 genomes]
rs1207875	0.81[EUR][1000 genomes]
rs1207895	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1207896	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1207897	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1207898	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1207900	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1207901	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1209401	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2210115	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2774058	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67890238	0.81[EUR][1000 genomes]
rs7790151	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs973320	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[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	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1019355	chr7:78319575-78399845	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv607657	chr7:78329795-78483211	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78386200-78397600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:78391800-78398800	Weak transcription	Pancreas	Pancrea
3	chr7:78394400-78397400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:78394400-78397600	Weak transcription	Brain Angular Gyrus	brain
5	chr7:78394400-78397600	Weak transcription	Fetal Heart	heart
6	chr7:78395400-78397800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:78395600-78398000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:78395600-78398200	Weak transcription	Aorta	Aorta
9	chr7:78395600-78398400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:78395800-78397400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:78395800-78398000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:78395800-78398200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:78396000-78397400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:78396000-78397600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:78396000-78397800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:78396000-78398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:78396200-78397400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:78396200-78397400	Weak transcription	Brain Hippocampus Middle	brain
19	chr7:78396200-78397400	Weak transcription	Brain Substantia Nigra	brain
20	chr7:78396200-78397800	Weak transcription	Brain Anterior Caudate	brain
21	chr7:78396200-78398000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:78396200-78398400	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:78396600-78397400	Weak transcription	Fetal Brain Male	brain
24	chr7:78396600-78398200	Weak transcription	Psoas Muscle	Psoas
25	chr7:78396600-78400600	Active TSS	Fetal Brain Female	brain
26	chr7:78397000-78398000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:78397000-78398000	Active TSS	Brain Germinal Matrix	brain
28	chr7:78397000-78398000	Enhancers	Pancreatic Islets	Pancreatic Islet

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