Variant report

Variant	rs33979013
Chromosome Location	chr2:66944457-66944458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10206488	0.82[CHD][hapmap]
rs10490191	0.90[ASN][1000 genomes]
rs10490192	0.83[ASN][1000 genomes]
rs10865357	0.91[ASN][1000 genomes]
rs12473446	0.85[ASN][1000 genomes]
rs12622301	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13000124	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6705424	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6719120	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7600609	0.90[ASN][1000 genomes]

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	nsv834248	chr2:66756873-66970378	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012523	chr2:66919704-66961372	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv582169	chr2:66936494-66959919	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs33979013	SERTAD2	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:66929200-66945000	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:66931400-66944800	Weak transcription	Fetal Stomach	stomach
3	chr2:66932200-66945000	Weak transcription	Fetal Lung	lung
4	chr2:66942800-66945400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:66942800-66945600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:66943600-66945000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:66943600-66945200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:66943600-66945400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:66944400-66945000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:66944400-66945400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:66944400-66945400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:66944400-66945400	Enhancers	NH-A	brain
13	chr2:66944400-66945600	Enhancers	iPS-18 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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