Variant report

Variant	rs2818749
Chromosome Location	chr1:217093368-217093369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10492955	1.00[EUR][1000 genomes]
rs1126020	1.00[EUR][1000 genomes]
rs11572392	1.00[AMR][1000 genomes]
rs11572399	1.00[AMR][1000 genomes]
rs12088511	1.00[EUR][1000 genomes]
rs12095308	1.00[EUR][1000 genomes]
rs12095404	1.00[EUR][1000 genomes]
rs17043992	1.00[EUR][1000 genomes]
rs1865919	1.00[EUR][1000 genomes]
rs2789562	1.00[AMR][1000 genomes]
rs2813697	1.00[EUR][1000 genomes]
rs2813698	1.00[EUR][1000 genomes]
rs2818750	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55879758	1.00[EUR][1000 genomes]
rs73093969	1.00[EUR][1000 genomes]
rs7515296	1.00[EUR][1000 genomes]
rs7529981	1.00[EUR][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	nsv873179	chr1:217056893-217112871	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv873180	chr1:217073060-217112871	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2818749	CCBL2	trans	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217082000-217095000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:217088800-217112000	Weak transcription	Pancreas	Pancrea
3	chr1:217089200-217099400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:217091000-217097000	Weak transcription	Fetal Heart	heart
5	chr1:217092400-217093400	Enhancers	Fetal Muscle Leg	muscle
6	chr1:217093200-217095000	Weak transcription	Fetal Kidney	kidney

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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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