Variant report

Variant	rs12067954
Chromosome Location	chr1:154851676-154851677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154850719..154853708-chr1:154868283..154870650,2	MCF-7	breast:
2	chr1:154641878..154642825-chr1:154850662..154851834,10	MCF-7	breast:
3	chr1:154849815..154852371-chr1:154881627..154884570,2	MCF-7	breast:
4	chr1:154843876..154848485-chr1:154848730..154854790,7	K562	blood:
5	chr1:154850056..154852682-chr1:154903933..154905463,2	MCF-7	breast:
6	chr1:154850801..154853684-chr1:154854424..154857585,3	K562	blood:
7	chr1:154844363..154847365-chr1:154847993..154851967,4	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12059540	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12063335	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60445215	0.80[AMR][1000 genomes]
rs60537431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6692661	1.00[EUR][1000 genomes]
rs72993366	1.00[EUR][1000 genomes]
rs72993369	1.00[EUR][1000 genomes]
rs72993370	1.00[EUR][1000 genomes]
rs72993373	1.00[EUR][1000 genomes]
rs72993374	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72993402	0.85[EUR][1000 genomes]
rs72995417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72995438	0.80[AMR][1000 genomes]
rs72995442	0.80[AMR][1000 genomes]
rs72995460	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv29982	chr1:154818353-154882544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv432953	chr1:154820067-154855055	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv464073	chr1:154837796-154904840	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv547960	chr1:154837796-154904840	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154843200-154854200	Weak transcription	Fetal Kidney	kidney
2	chr1:154843200-154854200	Weak transcription	Right Atrium	heart
3	chr1:154849800-154851800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:154850200-154851800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:154850200-154851800	Enhancers	Fetal Brain Female	brain
6	chr1:154850200-154852800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:154850400-154851800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:154850400-154853800	Weak transcription	K562	blood
9	chr1:154850400-154857800	Weak transcription	Lung	lung
10	chr1:154851000-154857800	Weak transcription	Ovary	ovary
11	chr1:154851200-154853200	Weak transcription	Fetal Stomach	stomach
12	chr1:154851200-154856400	Weak transcription	Pancreas	Pancrea
13	chr1:154851400-154851800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:154851400-154853000	Weak transcription	Brain Germinal Matrix	brain
15	chr1:154851400-154854000	Weak transcription	HMEC	breast
16	chr1:154851600-154851800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr1:154851600-154851800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:154851600-154851800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:154851600-154852000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:154851600-154852000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:154851600-154853400	Weak transcription	Fetal Brain Male	brain
22	chr1:154851600-154853800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links