Variant report

Variant	rs73982261
Chromosome Location	chr2:205315370-205315371
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs6748844	0.84[AFR][1000 genomes]
rs73982215	1.00[AMR][1000 genomes]
rs73982237	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73982244	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73982284	0.84[AFR][1000 genomes]
rs7567465	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205313600-205316600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:205313600-205316800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:205313800-205316000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:205313800-205317000	Enhancers	Colon Smooth Muscle	Colon
5	chr2:205314000-205320000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:205314200-205316600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:205314200-205316800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:205314400-205315600	Enhancers	Brain Hippocampus Middle	brain
9	chr2:205314600-205315400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:205314600-205315400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:205314600-205319800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:205314800-205315600	Enhancers	Brain Anterior Caudate	brain
13	chr2:205314800-205315600	Enhancers	Brain Substantia Nigra	brain
14	chr2:205314800-205315800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:205315000-205315600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr2:205315200-205316000	Enhancers	K562	blood

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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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