Variant report

Variant	rs2003774
Chromosome Location	chr21:45411860-45411861
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2838448	0.86[CHB][hapmap]
rs2838452	1.00[CHB][hapmap]
rs2838463	0.86[CHB][hapmap]
rs3737358	1.00[CHB][hapmap]
rs59957868	0.83[AFR][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	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 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	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
2	chr21:45393200-45413800	Weak transcription	HSMMtube	muscle
3	chr21:45404000-45417400	Weak transcription	Gastric	stomach
4	chr21:45408200-45413400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr21:45408200-45413400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr21:45408200-45413600	Weak transcription	Brain Hippocampus Middle	brain
7	chr21:45408200-45413600	Weak transcription	Brain Substantia Nigra	brain
8	chr21:45408200-45413800	Weak transcription	Brain Angular Gyrus	brain
9	chr21:45411200-45412400	Enhancers	Spleen	Spleen
10	chr21:45411400-45412000	Flanking Active TSS	Placenta	Placenta
11	chr21:45411400-45412000	Flanking Active TSS	Ovary	ovary
12	chr21:45411400-45412400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr21:45411600-45412000	Bivalent Enhancer	HepG2	liver
14	chr21:45411800-45412000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr21:45411800-45412200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:45411800-45413600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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

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