Variant report

Variant	rs73034836
Chromosome Location	chr1:180683614-180683615
allele	C/T
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:10)

rs_ID	r²[population]
rs57135776	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6687713	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6700142	1.00[AMR][1000 genomes]
rs73034720	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034745	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73034840	1.00[AMR][1000 genomes]
rs73040999	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73044555	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73047756	1.00[AMR][1000 genomes]
rs73051243	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2754432	chr1:180645343-180692343	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180672400-180690000	Weak transcription	Left Ventricle	heart
2	chr1:180672600-180690000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:180679000-180686600	Weak transcription	K562	blood
4	chr1:180680800-180691000	Weak transcription	Psoas Muscle	Psoas
5	chr1:180682000-180687200	Weak transcription	Ovary	ovary
6	chr1:180683400-180683800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr1:180683400-180683800	Enhancers	Primary B cells from peripheral blood	blood
8	chr1:180683600-180683800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:180683600-180683800	Enhancers	Spleen	Spleen
10	chr1:180683600-180684200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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