Variant report

Variant	rs2394631
Chromosome Location	chr7:97012300-97012301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10257214	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10261241	0.88[ASN][1000 genomes]
rs12111926	0.88[ASN][1000 genomes]
rs2024435	0.87[ASN][1000 genomes]
rs2394629	0.91[ASN][1000 genomes]
rs918010	0.91[ASN][1000 genomes]
rs983357	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028319	chr7:96940309-97012717	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv3359061	chr7:96997047-97402692	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv888757	chr7:97003503-97461115	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	esv1802661	chr7:97012193-97024877	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2394631	BAIAP2L1	cis	parietal	SCAN
rs2394631	TRRAP	cis	parietal	SCAN
rs2394631	BAIAP2L1	cis	cerebellum	SCAN
rs2394631	ZKSCAN5	cis	cerebellum	SCAN
rs2394631	PPP1R9A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97011600-97012400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:97011600-97012600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:97011600-97012600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:97012200-97012600	Enhancers	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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