Variant report

Variant	rs10452969
Chromosome Location	chr7:78347426-78347427
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10452967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10452968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10452970	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10485910	1.00[AMR][1000 genomes]
rs10485916	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11975666	1.00[AMR][1000 genomes]
rs11983993	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12537842	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12540572	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs17151363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17151366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7341426	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7341489	1.00[AFR][1000 genomes];1.00[AMR][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78343600-78347600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:78344600-78348200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:78344600-78348200	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:78345200-78350200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:78345600-78348200	Enhancers	Fetal Heart	heart
6	chr7:78346600-78347600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:78346600-78347600	Weak transcription	Left Ventricle	heart
8	chr7:78346800-78352800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:78346800-78361400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:78347200-78349200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr7:78347400-78347800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr7:78347400-78349200	Enhancers	Skeletal Muscle Male	skeletal muscle

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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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