Variant report

Variant	rs1323824
Chromosome Location	chr1:58226786-58226787
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1323816	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs1323819	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1323820	0.84[AFR][1000 genomes]
rs1323821	0.87[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.98[LWK][hapmap];0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1323822	0.82[CHD][hapmap];0.82[JPT][hapmap]
rs1323823	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs1408138	0.89[LWK][hapmap]
rs1924265	0.82[AFR][1000 genomes]
rs2406280	0.84[AFR][1000 genomes]
rs3118050	0.83[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.82[MKK][hapmap]
rs3118051	0.82[JPT][hapmap]
rs3118053	0.81[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs3118054	0.84[AFR][1000 genomes]
rs3118059	0.82[CHD][hapmap]
rs3131735	0.86[CHB][hapmap];0.89[CHD][hapmap];0.80[JPT][hapmap];0.82[MKK][hapmap]
rs3131740	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs3131741	0.87[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs3131743	0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1323824	GADL1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58222400-58232800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:58226000-58226800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:58226000-58227000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:58226400-58227800	Enhancers	Fetal Heart	heart
5	chr1:58226600-58227800	Weak transcription	H9 Cell Line	embryonic stem cell

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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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