Variant report

Variant	rs12042924
Chromosome Location	chr1:197297417-197297418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1337005	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2184850	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4915208	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197290600-197297800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:197291000-197297800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:197296400-197298000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr1:197296400-197298200	Enhancers	Brain Hippocampus Middle	brain
5	chr1:197296800-197297800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:197296800-197298000	Enhancers	Brain Anterior Caudate	brain
7	chr1:197297000-197297600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:197297000-197298000	Enhancers	Brain Cingulate Gyrus	brain
9	chr1:197297400-197298000	Enhancers	Brain Germinal Matrix	brain
10	chr1:197297400-197298000	Enhancers	Brain Substantia Nigra	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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