Variant report

Variant	rs17042543
Chromosome Location	chr1:216635078-216635079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11572721	1.00[AMR][1000 genomes]
rs11572725	1.00[AMR][1000 genomes]
rs11809096	1.00[AMR][1000 genomes]
rs17026613	1.00[AMR][1000 genomes]
rs17043114	1.00[AMR][1000 genomes]
rs4551649	1.00[AMR][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	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv873177	chr1:216622208-216639980	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv549200	chr1:216629416-216649667	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv549201	chr1:216629416-216650533	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2830097	chr1:216629416-216657259	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv549202	chr1:216632948-216650533	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216630600-216636600	Weak transcription	NHEK	skin
2	chr1:216630800-216636000	Weak transcription	NHDF-Ad	bronchial
3	chr1:216631000-216635200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:216631000-216635200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:216631000-216635200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:216631000-216636000	Weak transcription	NH-A	brain
7	chr1:216631200-216635200	Weak transcription	Hela-S3	cervix
8	chr1:216632600-216635200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:216632600-216636600	Weak transcription	Placenta	Placenta
10	chr1:216633200-216635800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:216633200-216636600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:216633200-216637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:216633800-216637000	Weak transcription	Pancreas	Pancrea
14	chr1:216634000-216636800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:216634200-216635800	Weak transcription	HMEC	breast
16	chr1:216634600-216637000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:216634600-216638200	Enhancers	NHLF	lung
18	chr1:216634600-216638400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:216634800-216635400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:216634800-216635400	Enhancers	Fetal Intestine Small	intestine
21	chr1:216634800-216635600	Enhancers	Osteobl	bone
22	chr1:216634800-216636200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:216634800-216637000	Enhancers	Fetal Heart	heart
24	chr1:216634800-216637400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:216634800-216638200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:216635000-216635400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:216635000-216635400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr1:216635000-216636600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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