Variant report

Variant	rs543337813
Chromosome Location	chr1:154854590-154854591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154845435..154848130-chr1:154852897..154855839,2	MCF-7	breast:
2	chr1:154854131..154858067-chr1:154858764..154862484,5	K562	blood:
3	chr1:154850801..154853684-chr1:154854424..154857585,3	K562	blood:
4	chr1:154843876..154848485-chr1:154848730..154854790,7	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv3435889	chr1:154854587-154856650	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 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	chr1:154850400-154857800	Weak transcription	Lung	lung
2	chr1:154851000-154857800	Weak transcription	Ovary	ovary
3	chr1:154851200-154856400	Weak transcription	Pancreas	Pancrea
4	chr1:154851800-154854600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:154852800-154856400	Weak transcription	Spleen	Spleen
6	chr1:154853000-154854600	Enhancers	Brain Germinal Matrix	brain
7	chr1:154853000-154855200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:154853800-154854600	Bivalent Enhancer	HSMMtube	muscle
9	chr1:154853800-154855000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:154853800-154856400	Weak transcription	Fetal Stomach	stomach
11	chr1:154854000-154854600	Enhancers	HMEC	breast
12	chr1:154854000-154854800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:154854000-154854800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:154854200-154854600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
15	chr1:154854200-154854600	Enhancers	Right Atrium	heart
16	chr1:154854200-154854800	Enhancers	Fetal Heart	heart
17	chr1:154854200-154855800	Weak transcription	K562	blood
18	chr1:154854400-154854600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:154854400-154854600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:154854400-154854800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:154854400-154854800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:154854400-154854800	Enhancers	NHDF-Ad	bronchial

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