Variant report

Variant	rs544694414
Chromosome Location	chr2:213395899-213395900
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1014479	chr2:213370690-213413231	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv875812	chr2:213395507-213434856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213391600-213399200	Enhancers	Fetal Heart	heart
2	chr2:213393000-213399000	Weak transcription	Psoas Muscle	Psoas
3	chr2:213393000-213400800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:213393200-213396000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:213393200-213399000	Weak transcription	Brain Angular Gyrus	brain
6	chr2:213393200-213400600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:213395200-213399600	Enhancers	Brain Substantia Nigra	brain
8	chr2:213395400-213396000	Active TSS	Aorta	Aorta
9	chr2:213395400-213397000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:213395400-213397400	Enhancers	Brain Anterior Caudate	brain
11	chr2:213395400-213398200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:213395400-213398800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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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