Variant report

Variant	rs17501221
Chromosome Location	chr1:71831748-71831749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17091219	1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes]
rs4622013	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1005726	chr1:71701840-71953242	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1848377	chr1:71718838-71964514	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv531880	chr1:71724941-71964501	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv830159	chr1:71772308-71909860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv916508	chr1:71777392-72046388	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv546474	chr1:71793221-72040354	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71831200-71831800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:71831200-71831800	Active TSS	Colon Smooth Muscle	Colon
3	chr1:71831200-71831800	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr1:71831200-71831800	Active TSS	Stomach Smooth Muscle	stomach
5	chr1:71831200-71832000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:71831200-71832000	Active TSS	NHDF-Ad	bronchial
7	chr1:71831200-71832000	Active TSS	Osteobl	bone
8	chr1:71831400-71831800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:71831400-71831800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:71831400-71831800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:71831400-71831800	Active TSS	Adipose Nuclei	Adipose
12	chr1:71831400-71831800	Active TSS	Brain Hippocampus Middle	brain
13	chr1:71831400-71831800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr1:71831400-71831800	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:71831400-71831800	Active TSS	Fetal Lung	lung
16	chr1:71831400-71831800	Active TSS	Fetal Stomach	stomach
17	chr1:71831400-71831800	Active TSS	Rectal Smooth Muscle	rectum
18	chr1:71831400-71831800	Active TSS	Right Atrium	heart
19	chr1:71831400-71831800	Enhancers	Dnd41	blood
20	chr1:71831400-71831800	Active TSS	HMEC	breast
21	chr1:71831400-71831800	Flanking Active TSS	NH-A	brain
22	chr1:71831400-71831800	Active TSS	NHLF	lung
23	chr1:71831400-71832000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:71831400-71832000	Active TSS	Ovary	ovary
25	chr1:71831400-71832000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr1:71831600-71831800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:71831600-71831800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:71831600-71831800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:71831600-71831800	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr1:71831600-71831800	Flanking Active TSS	HUVEC	blood vessel
31	chr1:71831600-71832000	Enhancers	Muscle Satellite Cultured Cells	--

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