Variant report

Variant	rs73989049
Chromosome Location	chr2:213396029-213396030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10165364	0.81[AFR][1000 genomes]
rs13392407	0.83[AFR][1000 genomes]
rs1482381	0.88[AFR][1000 genomes]
rs56099927	1.00[AMR][1000 genomes]
rs73989031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73989034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73989047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73989051	0.98[AFR][1000 genomes];1.00[AMR][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	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	chr2:213393200-213399000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:213393200-213400600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:213395200-213399600	Enhancers	Brain Substantia Nigra	brain
7	chr2:213395400-213397000	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:213395400-213397400	Enhancers	Brain Anterior Caudate	brain
9	chr2:213395400-213398200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:213395400-213398800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:213396000-213396200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:213396000-213399000	Weak transcription	Aorta	Aorta

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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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