Variant report

Variant	rs12073959
Chromosome Location	chr1:180692024-180692025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180683140..180685228-chr1:180690332..180692399,2	K562	blood:
2	chr1:180684187..180686971-chr1:180690770..180693292,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10914067	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10914089	0.91[AFR][1000 genomes]
rs10914109	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10914110	0.93[AFR][1000 genomes]
rs11487340	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12060106	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063811	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12075718	1.00[EUR][1000 genomes]
rs12079057	1.00[EUR][1000 genomes]
rs12080368	0.89[AFR][1000 genomes]
rs12084966	0.87[EUR][1000 genomes]
rs12088166	0.85[AFR][1000 genomes]
rs12094045	0.85[AFR][1000 genomes]
rs12238979	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12240182	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13374649	1.00[EUR][1000 genomes]
rs28556586	1.00[EUR][1000 genomes]
rs58972035	0.84[AFR][1000 genomes]
rs6671675	1.00[EUR][1000 genomes]
rs6692545	1.00[EUR][1000 genomes]
rs6700702	1.00[EUR][1000 genomes]
rs73036505	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036508	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036535	0.86[AFR][1000 genomes]
rs73036573	0.93[AFR][1000 genomes]
rs73047686	1.00[EUR][1000 genomes]
rs73047695	1.00[EUR][1000 genomes]
rs73049484	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73049487	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73051218	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73051239	0.91[AMR][1000 genomes]
rs7512811	0.93[AFR][1000 genomes]
rs7524525	0.93[AFR][1000 genomes]
rs7550861	0.89[AFR][1000 genomes]
rs7553766	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7556291	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	chr1:180683800-180692800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:180684800-180697800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:180687000-180700400	Weak transcription	K562	blood
4	chr1:180691400-180701800	Weak transcription	Left Ventricle	heart
5	chr1:180691600-180692200	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:180691600-180697000	Weak transcription	Psoas Muscle	Psoas
7	chr1:180691800-180693400	Enhancers	Fetal Heart	heart
8	chr1:180691800-180695200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:180692000-180693000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:180692000-180695600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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