Variant report

Variant	rs12069185
Chromosome Location	chr1:152414635-152414636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12061033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12089980	0.85[AFR][1000 genomes]
rs12354138	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34798339	1.00[AMR][1000 genomes]
rs35492900	1.00[AMR][1000 genomes]
rs60612664	1.00[EUR][1000 genomes]
rs6676954	1.00[AMR][1000 genomes]
rs74128230	1.00[EUR][1000 genomes]
rs7521367	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1005472	chr1:152247763-152443448	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv535161	chr1:152247763-152443448	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv916016	chr1:152337775-152590520	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv872443	chr1:152400055-152459747	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv872444	chr1:152400361-152440753	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv824664	chr1:152409024-152434443	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv463850	chr1:152411090-152434009	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv547858	chr1:152411090-152434009	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv872445	chr1:152411813-152440753	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152409400-152414800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:152409800-152416600	Weak transcription	HSMM	muscle
3	chr1:152410200-152415400	Weak transcription	HSMMtube	muscle
4	chr1:152413000-152416400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:152413200-152415200	Enhancers	NHEK	skin
6	chr1:152413600-152414800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:152413600-152415200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:152413600-152415200	Weak transcription	Left Ventricle	heart
9	chr1:152413600-152415200	Weak transcription	Lung	lung
10	chr1:152413600-152415200	Weak transcription	Pancreas	Pancrea
11	chr1:152413600-152416000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:152413600-152416200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:152413600-152416200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:152413800-152414800	Weak transcription	HMEC	breast
15	chr1:152413800-152415800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:152413800-152416400	Enhancers	Colon Smooth Muscle	Colon
17	chr1:152413800-152417000	Enhancers	Esophagus	oesophagus
18	chr1:152413800-152417000	Enhancers	Stomach Mucosa	stomach
19	chr1:152414600-152415800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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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