Variant report

Variant	rs56040565
Chromosome Location	chr7:78111350-78111351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11972334	0.80[EUR][1000 genomes]
rs17147836	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17150878	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17150898	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17367928	0.80[EUR][1000 genomes]
rs17369423	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55777644	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56139883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6950700	0.96[ASN][1000 genomes]
rs73150359	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150374	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7780361	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7802290	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][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	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78103000-78117600	Weak transcription	Fetal Brain Female	brain
2	chr7:78103800-78115600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:78104400-78116800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:78105600-78113800	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:78106200-78113200	Weak transcription	Brain Anterior Caudate	brain
6	chr7:78106400-78113600	Weak transcription	Brain Substantia Nigra	brain
7	chr7:78106600-78114000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr7:78106600-78117000	Weak transcription	Brain Germinal Matrix	brain
9	chr7:78108400-78116800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:78108800-78117400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:78108800-78118800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:78109000-78118200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:78109200-78114400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:78109600-78117600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:78109600-78118600	Weak transcription	Fetal Heart	heart

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

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