Variant report

Variant	rs10444397
Chromosome Location	chr12:20338941-20338942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10431212	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10770620	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10770623	0.90[AFR][1000 genomes]
rs10770624	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10770627	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1427979	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2195280	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2417848	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4545637	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7307541	0.88[AMR][1000 genomes];0.95[EUR][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	nsv898855	chr12:20278430-20354786	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1035141	chr12:20286595-20429040	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv898856	chr12:20317201-20354786	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases
4	nsv519505	chr12:20337185-20338941	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10444397	AEBP2	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20328200-20354200	Weak transcription	Aorta	Aorta
2	chr12:20336600-20341000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:20336800-20341000	Weak transcription	Fetal Heart	heart
4	chr12:20336800-20342200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:20336800-20342600	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:20337400-20341000	Weak transcription	Fetal Intestine Large	intestine
7	chr12:20337600-20341400	Weak transcription	Fetal Intestine Small	intestine
8	chr12:20338000-20341800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr12:20338200-20339400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr12:20338200-20346800	Weak transcription	H9 Cell Line	embryonic stem cell

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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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