Variant report

Variant	rs2083147
Chromosome Location	chr7:38570923-38570924
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:14)

rs_ID	r²[population]
rs10246472	0.86[EUR][1000 genomes]
rs10259950	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264790	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276324	0.96[ASN][1000 genomes]
rs10276544	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10280133	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2014872	0.81[ASN][1000 genomes]
rs3807390	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3807396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777111	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785965	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7799083	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9638940	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs967022	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv830966	chr7:38393663-38602553	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1018890	chr7:38557432-38600944	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:38563800-38578400	Weak transcription	Aorta	Aorta
2	chr7:38564200-38580800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:38564800-38578400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:38569600-38574000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:38570000-38571000	Enhancers	Fetal Heart	heart
6	chr7:38570000-38571000	Enhancers	HUVEC	blood vessel
7	chr7:38570400-38571000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:38570400-38575400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr7:38570600-38571000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:38570600-38571000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:38570600-38571000	Genic enhancers	Spleen	Spleen
12	chr7:38570800-38572400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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