Variant report

Variant	rs2494117
Chromosome Location	chr1:194504223-194504224
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10754105	0.82[AMR][1000 genomes]
rs12132414	0.82[AMR][1000 genomes]
rs2494127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2494162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2494323	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2494324	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2494325	0.85[EUR][1000 genomes]
rs2494330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2494331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4471248	0.82[AMR][1000 genomes]
rs6428227	0.82[AMR][1000 genomes]
rs6677716	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872843	chr1:194221509-194506982	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv427885	chr1:194281914-194515299	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv872854	chr1:194295528-194584977	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv872855	chr1:194295528-194641175	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv872856	chr1:194295528-194652655	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv872858	chr1:194353541-194635480	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1010070	chr1:194364517-194650839	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv872859	chr1:194377156-194590401	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3364286	chr1:194410365-194598076	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1014879	chr1:194418509-195274182	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1011220	chr1:194434255-195276317	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv872860	chr1:194482304-194839289	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv467061	chr1:194496590-194606982	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv548690	chr1:194496590-194606982	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194503000-194504800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:194503000-194505000	Enhancers	HMEC	breast
3	chr1:194503200-194504600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:194503200-194504800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:194503200-194504800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:194503200-194505200	Enhancers	NHEK	skin
7	chr1:194503600-194504600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:194503600-194504600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:194503600-194504800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:194503800-194504800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:194504000-194504800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:194504000-194504800	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:194504000-194505000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:194504200-194504400	Active TSS	Placenta	Placenta
15	chr1:194504200-194504800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:194504200-194504800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:194504200-194505000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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