Variant report

Variant	rs12071768
Chromosome Location	chr1:152415849-152415850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:152414849..152417145-chr1:152419655..152422023,2	K562	blood:
2	chr1:152413761..152416710-chr1:152419995..152423681,3	MCF-7	breast:
3	chr1:152368385..152370359-chr1:152413395..152416053,2	MCF-7	breast:
4	chr1:152413327..152415883-chr1:152427595..152432391,4	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10157860	1.00[EUR][1000 genomes]
rs11805976	1.00[EUR][1000 genomes]
rs11807452	1.00[EUR][1000 genomes]
rs11807465	1.00[EUR][1000 genomes]
rs11810565	1.00[EUR][1000 genomes]
rs12062763	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12068970	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076464	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16833974	1.00[EUR][1000 genomes]
rs3120668	1.00[EUR][1000 genomes]
rs3120669	1.00[EUR][1000 genomes]
rs4636462	0.80[AFR][1000 genomes]
rs477291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs506407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58782040	1.00[EUR][1000 genomes]
rs60958057	1.00[EUR][1000 genomes]
rs61250742	1.00[EUR][1000 genomes]
rs61676926	1.00[EUR][1000 genomes]
rs61749580	1.00[EUR][1000 genomes]
rs6587670	1.00[EUR][1000 genomes]
rs6667236	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6669029	1.00[EUR][1000 genomes]
rs6673073	1.00[EUR][1000 genomes]
rs6681629	1.00[EUR][1000 genomes]
rs6695830	1.00[EUR][1000 genomes]
rs72997398	1.00[EUR][1000 genomes]
rs72999303	1.00[EUR][1000 genomes]
rs73001316	1.00[EUR][1000 genomes]
rs73001318	1.00[EUR][1000 genomes]
rs73001319	1.00[EUR][1000 genomes]
rs73001326	1.00[EUR][1000 genomes]
rs73001329	1.00[EUR][1000 genomes]
rs73001338	1.00[EUR][1000 genomes]
rs73007787	1.00[EUR][1000 genomes]
rs73007794	1.00[EUR][1000 genomes]
rs73007801	1.00[EUR][1000 genomes]
rs7514641	1.00[EUR][1000 genomes]
rs7549175	1.00[EUR][1000 genomes]
rs7554863	1.00[EUR][1000 genomes]
rs9725444	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152409800-152416600	Weak transcription	HSMM	muscle
2	chr1:152413000-152416400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:152413600-152416000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:152413600-152416200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:152413600-152416200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr1:152413800-152416400	Enhancers	Colon Smooth Muscle	Colon
7	chr1:152413800-152417000	Enhancers	Esophagus	oesophagus
8	chr1:152413800-152417000	Enhancers	Stomach Mucosa	stomach
9	chr1:152414800-152416000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:152414800-152416200	Enhancers	Stomach Smooth Muscle	stomach
11	chr1:152414800-152416800	Enhancers	HMEC	breast
12	chr1:152415000-152416400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:152415200-152416200	Enhancers	Left Ventricle	heart
14	chr1:152415200-152416600	Enhancers	Spleen	Spleen
15	chr1:152415400-152416800	Enhancers	HSMMtube	muscle
16	chr1:152415600-152416000	Enhancers	NHEK	skin
17	chr1:152415600-152416800	Enhancers	Brain Anterior Caudate	brain
18	chr1:152415600-152420000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:152415800-152416000	Flanking Active TSS	Fetal Kidney	kidney
20	chr1:152415800-152416200	Enhancers	Pancreas	Pancrea
21	chr1:152415800-152416800	Enhancers	Lung	lung
22	chr1:152415800-152416800	Enhancers	Rectal Smooth Muscle	rectum
23	chr1:152415800-152417000	Enhancers	Brain Hippocampus Middle	brain
24	chr1:152415800-152417000	Enhancers	Brain Substantia Nigra	brain

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