Variant report

Variant	rs55699373
Chromosome Location	chr2:182003703-182003704
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs55660649	0.86[EUR][1000 genomes]
rs55854201	1.00[EUR][1000 genomes]
rs55934533	1.00[EUR][1000 genomes]
rs56066931	1.00[EUR][1000 genomes]
rs56184714	1.00[EUR][1000 genomes]
rs56208112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56227816	0.86[EUR][1000 genomes]
rs56252601	0.86[EUR][1000 genomes]
rs56298450	1.00[EUR][1000 genomes]
rs56329092	1.00[EUR][1000 genomes]
rs56347806	1.00[EUR][1000 genomes]
rs6741600	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6742878	1.00[EUR][1000 genomes]
rs6745557	1.00[EUR][1000 genomes]
rs6755739	0.86[EUR][1000 genomes]
rs73976824	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73976835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7578322	1.00[EUR][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	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181999600-182022000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:182001600-182005000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr2:182001800-182005000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:182001800-182005200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:182001800-182006000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:182002000-182005800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:182003200-182004800	Enhancers	Primary T cells from cord blood	blood
8	chr2:182003400-182003800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:182003400-182009200	Enhancers	Dnd41	blood
10	chr2:182003600-182004000	Enhancers	Fetal Thymus	thymus
11	chr2:182003600-182004000	Enhancers	HMEC	breast
12	chr2:182003600-182005400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:182003600-182005600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:182003600-182005800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr2:182003600-182005800	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr2:182003600-182006200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:182003600-182006200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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