Variant report

Variant	rs16865907
Chromosome Location	chr2:178759137-178759138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10497485	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10497486	1.00[AMR][1000 genomes]
rs1370658	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1527292	1.00[AMR][1000 genomes]
rs16865829	1.00[AMR][1000 genomes]
rs16865833	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865835	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865838	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865839	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865844	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865848	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865850	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865852	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865909	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16865912	1.00[AFR][1000 genomes]
rs16865918	1.00[AMR][1000 genomes]
rs16865933	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv2756313	chr2:178750158-178768683	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2754225	chr2:178750493-178768493	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178741000-178759200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:178746000-178759200	Weak transcription	Fetal Intestine Small	intestine
3	chr2:178755200-178767400	Weak transcription	Right Atrium	heart
4	chr2:178757200-178760000	Enhancers	Fetal Heart	heart
5	chr2:178757400-178759400	Enhancers	K562	blood
6	chr2:178757800-178761000	Weak transcription	Gastric	stomach
7	chr2:178758000-178759400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:178758600-178759400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:178758800-178759200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:178758800-178759400	Enhancers	Stomach Mucosa	stomach

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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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