Variant report

Variant	rs12045335
Chromosome Location	chr1:197300995-197300996
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10494752	0.81[AMR][1000 genomes]
rs10801600	0.81[AMR][1000 genomes]
rs10801601	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10801602	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10922190	0.81[AMR][1000 genomes]
rs10922197	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10922198	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12022402	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1337006	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1337007	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1337170	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1415210	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1415343	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2884645	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4915453	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7418217	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7530522	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7548481	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7553508	0.81[AMR][1000 genomes];0.84[EUR][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12045335	CRB1	cis	brain	BrainEAC

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197298000-197302000	Weak transcription	Brain Anterior Caudate	brain
2	chr1:197298200-197304800	Weak transcription	Brain Hippocampus Middle	brain
3	chr1:197299000-197323400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:197299800-197307200	Weak transcription	Cortex derived primary cultured neurospheres	brain

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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