Variant report

Variant	rs12070554
Chromosome Location	chr1:180679060-180679061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10914092	1.00[AMR][1000 genomes]
rs10914097	1.00[AMR][1000 genomes]
rs10914099	1.00[AMR][1000 genomes]
rs10914100	1.00[AMR][1000 genomes]
rs12058670	1.00[AMR][1000 genomes]
rs12059839	1.00[AMR][1000 genomes]
rs12060280	1.00[AMR][1000 genomes]
rs12062543	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062549	1.00[AMR][1000 genomes]
rs12064761	1.00[AMR][1000 genomes]
rs12068825	1.00[AMR][1000 genomes]
rs12073278	1.00[AMR][1000 genomes]
rs12076029	1.00[AMR][1000 genomes]
rs12076333	1.00[AMR][1000 genomes]
rs12076671	1.00[AMR][1000 genomes]
rs12082348	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12083109	1.00[AMR][1000 genomes]
rs12084562	1.00[AMR][1000 genomes]
rs12085100	1.00[AMR][1000 genomes]
rs12087750	1.00[AMR][1000 genomes]
rs12088793	1.00[AMR][1000 genomes]
rs12089474	1.00[AMR][1000 genomes]
rs12089522	1.00[AMR][1000 genomes]
rs12089583	1.00[AMR][1000 genomes]
rs12089730	1.00[AMR][1000 genomes]
rs12090598	1.00[AMR][1000 genomes]
rs12092799	1.00[AMR][1000 genomes]
rs12093156	1.00[AMR][1000 genomes]
rs12093933	1.00[AMR][1000 genomes]
rs12094697	1.00[AMR][1000 genomes]
rs12095275	1.00[AMR][1000 genomes]
rs12095957	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12096142	1.00[AMR][1000 genomes]
rs12097202	1.00[AMR][1000 genomes]
rs57004467	1.00[AMR][1000 genomes]
rs59193426	1.00[AMR][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:6 , 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	chr1:180672800-180679600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:180673000-180683400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:180678800-180683000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:180679000-180686600	Weak transcription	K562	blood

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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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