Variant report

Variant	rs2924726
Chromosome Location	chr8:4842010-4842011
allele	A/G
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:14)

rs_ID	r²[population]
rs10088688	0.80[CHB][hapmap]
rs10101412	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs2924720	0.87[CHB][hapmap]
rs2924723	0.83[CHB][hapmap]
rs2924724	0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2924725	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4477045	0.86[CHB][hapmap]
rs4495447	0.82[CHB][hapmap]
rs4517142	0.86[CHB][hapmap]
rs4517143	0.86[CHB][hapmap]
rs4614018	0.83[CHB][hapmap]
rs4875427	0.87[CHB][hapmap]
rs7007684	1.00[CEU][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs9657374	1.00[CEU][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv609876	chr8:4494811-5092970	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1029480	chr8:4497596-5081032	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv498130	chr8:4532988-5176376	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1031026	chr8:4771072-5054326	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1031402	chr8:4827087-4842934	Strong transcription Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2924726	CSMD1	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4832000-4848200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:4835200-4847200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:4835600-4848200	Weak transcription	Brain Angular Gyrus	brain
4	chr8:4840000-4845200	Weak transcription	Fetal Heart	heart
5	chr8:4840200-4847600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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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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