Variant report

Variant	rs376999097
Chromosome Location	chr21:28200949-28200950
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv437848	chr21:28190398-28203668	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv3482	chr21:28191297-28221975	Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
6	esv3529838	chr21:28194081-28203279	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3529845	chr21:28194631-28203129	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv964546	chr21:28194679-28202707	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3455120	chr21:28195155-28201956	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3529847	chr21:28195192-28201927	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3529846	chr21:28195195-28201889	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3455121	chr21:28195206-28201928	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3455117	chr21:28195215-28201904	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3455118	chr21:28195229-28201876	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3529844	chr21:28195236-28201896	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv21254	chr21:28195250-28201822	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3455122	chr21:28195277-28201850	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3529843	chr21:28195287-28201850	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3455123	chr21:28195291-28201848	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3529848	chr21:28195291-28201848	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv470897	chr21:28196045-28216066	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	nsv587340	chr21:28198927-28201637	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
23	esv2760698	chr21:28200072-28204073	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28199000-28208400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr21:28199200-28208800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr21:28199400-28203600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr21:28199400-28205600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:28199800-28205200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr21:28199800-28208800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:28200600-28203200	Weak transcription	Dnd41	blood
8	chr21:28200600-28205000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr21:28200600-28205400	Weak transcription	NHEK	skin
10	chr21:28200600-28205800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr21:28200600-28205800	Weak transcription	HMEC	breast
12	chr21:28200600-28208800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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