Variant report

Variant	rs62468560
Chromosome Location	chr7:78139018-78139019
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12705530	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12705545	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs62467124	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468561	1.00[ASN][1000 genomes]
rs62468564	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468567	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468572	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468574	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468575	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468576	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468580	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62468581	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62468583	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62468584	1.00[AFR][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	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv607655	chr7:78134864-78148980	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78119600-78145600	Weak transcription	Ovary	ovary
2	chr7:78122600-78143800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:78126200-78143800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:78127800-78140000	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:78128200-78144000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:78128200-78145800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr7:78128400-78142600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:78128400-78144000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:78128400-78144000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:78128600-78140200	Weak transcription	Brain Substantia Nigra	brain
11	chr7:78128600-78142600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:78128600-78145800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:78128800-78158400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:78129000-78144000	Weak transcription	Pancreas	Pancrea
15	chr7:78129800-78140000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:78130800-78139800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:78131200-78144400	Weak transcription	Brain Angular Gyrus	brain
18	chr7:78136800-78140200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:78138400-78161800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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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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