Variant report

Variant	rs16865844
Chromosome Location	chr2:178717365-178717366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10497485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10497486	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1370658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1527292	1.00[AMR][1000 genomes]
rs16865829	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865872	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865887	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865907	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865909	1.00[AMR][1000 genomes]
rs16865912	0.92[AFR][1000 genomes]
rs16865918	1.00[AMR][1000 genomes]
rs16865933	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv3053	chr2:178690640-178735132	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv978954	chr2:178716893-178719864	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3322845	chr2:178717331-178719879	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178716600-178717800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:178716600-178718200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:178716800-178717400	Enhancers	Adipose Nuclei	Adipose
4	chr2:178716800-178717600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:178716800-178717600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:178716800-178718000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:178717000-178720600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:178717000-178720800	Weak transcription	H1 BMP4 Derived Mesendoderm 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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