Variant report

Variant	rs11978530
Chromosome Location	chr7:86295688-86295689
allele	C/T
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:15)

rs_ID	r²[population]
rs11972852	1.00[AMR][1000 genomes]
rs11976425	1.00[AMR][1000 genomes]
rs11976772	1.00[AMR][1000 genomes]
rs11976887	1.00[AMR][1000 genomes]
rs11978097	1.00[AMR][1000 genomes]
rs11978143	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11981798	1.00[AMR][1000 genomes]
rs41381245	1.00[AMR][1000 genomes]
rs57405302	1.00[AMR][1000 genomes]
rs59320507	1.00[AMR][1000 genomes]
rs59495052	1.00[AMR][1000 genomes]
rs60180790	1.00[AMR][1000 genomes]
rs6965718	1.00[AMR][1000 genomes]
rs73398411	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs781021	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	nsv1025032	chr7:86032479-86642973	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831053	chr7:86268171-86440999	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86283600-86297200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:86283800-86297800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:86288600-86299800	Enhancers	Brain Anterior Caudate	brain
4	chr7:86291800-86297200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:86292400-86300000	Enhancers	Brain Substantia Nigra	brain
6	chr7:86292400-86300200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr7:86292600-86300200	Enhancers	Brain Hippocampus Middle	brain
8	chr7:86294200-86297000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:86295200-86298800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:86295400-86298600	Enhancers	Brain Angular Gyrus	brain
11	chr7:86295600-86295800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:86295600-86295800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr7:86295600-86295800	Enhancers	Brain Cingulate Gyrus	brain
14	chr7:86295600-86299000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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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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