Variant report

Variant	rs10227996
Chromosome Location	chr7:50868419-50868420
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10261151	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267306	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17152128	0.85[AMR][1000 genomes]
rs59447685	0.85[AMR][1000 genomes]
rs720845	0.83[AMR][1000 genomes]
rs73697746	0.99[AFR][1000 genomes];1.00[AMR][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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv824091	chr7:50828682-50885984	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50862200-50889000	Weak transcription	Right Atrium	heart
2	chr7:50867200-50870200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr7:50867800-50869600	Weak transcription	Psoas Muscle	Psoas
4	chr7:50867800-50871200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:50867800-50871200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:50868000-50869600	Weak transcription	Spleen	Spleen
7	chr7:50868000-50870600	Weak transcription	Pancreas	Pancrea
8	chr7:50868000-50880000	Weak transcription	Left Ventricle	heart
9	chr7:50868200-50868800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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