Variant report

Variant	rs17043843
Chromosome Location	chr2:53161718-53161719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17043840	1.00[AMR][1000 genomes]
rs55791321	1.00[AMR][1000 genomes]
rs72883607	1.00[AMR][1000 genomes]
rs72893041	1.00[AMR][1000 genomes]
rs72898389	1.00[AMR][1000 genomes]
rs72900358	1.00[AMR][1000 genomes]
rs72900382	1.00[AMR][1000 genomes]
rs72902259	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998380	chr2:52891706-53222155	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	esv2763631	chr2:52910862-53169629	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1006244	chr2:52958322-53169617	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010978	chr2:52959769-53249951	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1014068	chr2:52960353-53169617	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv520722	chr2:53039770-53421015	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv581978	chr2:53091691-53227749	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv874136	chr2:53101066-53218774	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
9	nsv874137	chr2:53114775-53216917	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv874138	chr2:53114775-53218774	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
11	nsv1009138	chr2:53129701-53167075	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
12	esv3693331	chr2:53159702-53192269	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53159200-53162200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:53160200-53161800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:53160200-53163200	Enhancers	Hela-S3	cervix
4	chr2:53160600-53162600	Enhancers	NH-A	brain
5	chr2:53160600-53162800	Enhancers	Osteobl	bone
6	chr2:53161000-53161800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:53161000-53161800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:53161000-53161800	Enhancers	NHLF	lung
9	chr2:53161000-53162200	Enhancers	GM12878-XiMat	blood
10	chr2:53161000-53162400	Enhancers	NHEK	skin
11	chr2:53161200-53161800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:53161200-53161800	Weak transcription	Fetal Intestine Large	intestine
13	chr2:53161200-53161800	Enhancers	Stomach Mucosa	stomach
14	chr2:53161200-53162200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:53161200-53162200	Enhancers	Liver	Liver
16	chr2:53161200-53162400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:53161200-53162400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr2:53161400-53161800	Weak transcription	Fetal Intestine Small	intestine
19	chr2:53161400-53162200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:53161400-53162200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:53161600-53162200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:53161600-53162600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:53161600-53163400	Enhancers	HMEC	breast
24	chr2:53161600-53163600	Enhancers	A549	lung

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