Variant report

Variant	rs55660734
Chromosome Location	chr1:186590001-186590002
allele	A/G
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:15)

rs_ID	r²[population]
rs12120448	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12131484	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12133471	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12137128	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12145329	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3119331	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3131554	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3131556	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55658718	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61810323	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61810348	0.80[EUR][1000 genomes]
rs6658482	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6666680	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6684038	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7515126	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186587800-186596200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:186588000-186594800	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:186588200-186590600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr1:186588200-186591000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:186588200-186591000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr1:186588200-186591200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:186588200-186595800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:186588400-186591400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr1:186589400-186590600	Enhancers	Primary T cells from cord blood	blood
10	chr1:186589400-186590800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:186589400-186591000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:186589400-186591200	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:186589600-186590400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:186589600-186590400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:186589600-186590600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:186589600-186590600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:186589600-186590600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:186589600-186590600	Enhancers	Dnd41	blood
19	chr1:186589600-186590800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:186589600-186590800	Enhancers	HMEC	breast
21	chr1:186589600-186591000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:186589600-186591000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:186589600-186591200	Enhancers	NHDF-Ad	bronchial
24	chr1:186589600-186591200	Enhancers	Osteobl	bone
25	chr1:186589600-186591800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:186589800-186590200	Enhancers	Stomach Smooth Muscle	stomach
27	chr1:186589800-186590400	Enhancers	Primary T cells fromperipheralblood	blood
28	chr1:186589800-186590400	Enhancers	NH-A	brain
29	chr1:186589800-186590600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:186589800-186590600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:186589800-186590600	Enhancers	Fetal Thymus	thymus
32	chr1:186589800-186590600	Enhancers	Rectal Smooth Muscle	rectum
33	chr1:186589800-186590600	Enhancers	NHEK	skin
34	chr1:186590000-186591000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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