Variant report

Variant	rs1372554
Chromosome Location	chr3:19440849-19440850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13077930	0.88[EUR][1000 genomes]
rs1442198	0.89[EUR][1000 genomes]
rs4857959	0.97[ASN][1000 genomes]
rs6551252	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7619551	0.96[ASN][1000 genomes]
rs7630132	0.90[EUR][1000 genomes]
rs9818641	0.91[EUR][1000 genomes]
rs9874099	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517847	chr3:18845347-19483695	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010123	chr3:18990307-19989504	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1004602	chr3:19031671-19930052	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv536511	chr3:19031671-19930052	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv948636	chr3:19335802-19856585	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv589855	chr3:19409153-19512074	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19435200-19449000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:19435600-19441000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:19436800-19441800	Weak transcription	Aorta	Aorta
4	chr3:19436800-19448800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:19438000-19443800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:19438600-19446200	Weak transcription	Primary B cells from cord blood	blood
7	chr3:19438800-19445600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:19440000-19441600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:19440000-19441800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:19440200-19441600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr3:19440200-19441600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:19440200-19441600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:19440200-19441800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:19440400-19441600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr3:19440800-19441600	Enhancers	HUES6 Cell Line	embryonic stem cell

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

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