Variant report

Variant	rs55862715
Chromosome Location	chr1:186606716-186606717
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10489398	1.00[AMR][1000 genomes]
rs16825608	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16825635	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16825669	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs20415	1.00[AMR][1000 genomes]
rs20419	1.00[AMR][1000 genomes]
rs41313914	1.00[AMR][1000 genomes]
rs4648304	1.00[AMR][1000 genomes]
rs74136827	1.00[AMR][1000 genomes]
rs7539518	1.00[AMR][1000 genomes]
rs7540451	0.83[AFR][1000 genomes]
rs7555943	0.87[AFR][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186602600-186614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:186606000-186606800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:186606200-186607000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:186606200-186607000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:186606200-186607000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:186606400-186606800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:186606400-186606800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:186606400-186606800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:186606400-186606800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:186606400-186606800	Active TSS	A549	lung
11	chr1:186606400-186607000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr1:186606400-186607000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:186606400-186607000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:186606400-186607000	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:186606400-186607000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:186606400-186607000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr1:186606400-186607000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr1:186606400-186607000	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:186606400-186607000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:186606400-186607000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:186606400-186607000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:186606400-186607000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:186606600-186607000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:186606600-186607000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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