Variant report

Variant	rs723294
Chromosome Location	chr7:78396548-78396549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1012955	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10244070	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10953690	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1207863	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1207864	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1207865	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1207866	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1207867	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1207894	0.81[AMR][1000 genomes]
rs1211415	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12705771	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1989977	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1989978	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2525808	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2774059	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs37848	0.80[EUR][1000 genomes]
rs7780363	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs886472	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs886473	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs886474	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs970757	0.83[AMR][1000 genomes];0.80[EUR][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:27 , 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	chr7:78394000-78396600	Enhancers	Psoas Muscle	Psoas
4	chr7:78394000-78397000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:78394400-78397400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr7:78394400-78397600	Weak transcription	Brain Angular Gyrus	brain
7	chr7:78394400-78397600	Weak transcription	Fetal Heart	heart
8	chr7:78394600-78396600	Weak transcription	Fetal Brain Female	brain
9	chr7:78395400-78396600	Enhancers	Fetal Brain Male	brain
10	chr7:78395400-78397800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:78395600-78398000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:78395600-78398200	Weak transcription	Aorta	Aorta
13	chr7:78395600-78398400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:78395800-78397000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:78395800-78397400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:78395800-78398000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr7:78395800-78398200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:78396000-78397400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr7:78396000-78397600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:78396000-78397800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:78396000-78398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr7:78396200-78397400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr7:78396200-78397400	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:78396200-78397400	Weak transcription	Brain Substantia Nigra	brain
25	chr7:78396200-78397800	Weak transcription	Brain Anterior Caudate	brain
26	chr7:78396200-78398000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:78396200-78398400	Weak transcription	Colon Smooth Muscle	Colon

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