Variant report

Variant	rs28682376
Chromosome Location	chr4:119095891-119095892
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10002349	1.00[AMR][1000 genomes]
rs10003652	1.00[AMR][1000 genomes]
rs10005659	1.00[AMR][1000 genomes]
rs10007553	1.00[AMR][1000 genomes]
rs10018706	1.00[AMR][1000 genomes]
rs10024548	1.00[AMR][1000 genomes]
rs10025029	1.00[AMR][1000 genomes]
rs10025515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10028823	1.00[AMR][1000 genomes]
rs10030057	1.00[AMR][1000 genomes]
rs10031402	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11931409	1.00[AMR][1000 genomes]
rs13434557	1.00[AMR][1000 genomes]
rs28421577	1.00[AMR][1000 genomes]
rs28451256	1.00[AMR][1000 genomes]
rs28484271	1.00[AMR][1000 genomes]
rs28558085	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28567841	1.00[AMR][1000 genomes]
rs28576396	1.00[AMR][1000 genomes]
rs28582030	1.00[AMR][1000 genomes]
rs28585079	1.00[AMR][1000 genomes]
rs28610040	1.00[AMR][1000 genomes]
rs28619162	1.00[AMR][1000 genomes]
rs28630407	0.86[AFR][1000 genomes]
rs28634343	1.00[AMR][1000 genomes]
rs28665169	1.00[AMR][1000 genomes]
rs28667620	1.00[AMR][1000 genomes]
rs28669076	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28706008	1.00[AMR][1000 genomes]
rs28715892	1.00[AMR][1000 genomes]
rs28735538	1.00[AMR][1000 genomes]
rs28740899	1.00[AMR][1000 genomes]
rs28771156	1.00[AMR][1000 genomes]
rs28776305	1.00[AMR][1000 genomes]
rs28823876	1.00[AMR][1000 genomes]
rs28847597	1.00[AMR][1000 genomes]
rs28886020	1.00[AMR][1000 genomes]
rs57461354	1.00[AMR][1000 genomes]
rs9307456	1.00[AMR][1000 genomes]
rs9994181	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1008236	chr4:118989467-119154024	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv999152	chr4:119001143-119138322	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119093000-119096000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:119094000-119096400	Enhancers	NHDF-Ad	bronchial
3	chr4:119094000-119097400	Enhancers	NHLF	lung
4	chr4:119094000-119098400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:119094400-119096200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:119094400-119097200	Enhancers	HMEC	breast
7	chr4:119094400-119097600	Enhancers	Primary hematopoietic stem cells	blood
8	chr4:119094400-119097800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:119094600-119096400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:119094600-119097600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:119094600-119101800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:119095000-119096200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:119095000-119097000	Enhancers	HSMM	muscle
14	chr4:119095200-119096000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:119095200-119096800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:119095200-119097000	Enhancers	Thymus	Thymus
17	chr4:119095200-119097200	Enhancers	Fetal Thymus	thymus
18	chr4:119095400-119097200	Enhancers	Osteobl	bone
19	chr4:119095600-119096200	Enhancers	Fetal Stomach	stomach
20	chr4:119095600-119096400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:119095600-119096400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:119095600-119097000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:119095600-119097200	Enhancers	Primary T cells from cord blood	blood
24	chr4:119095600-119097200	Flanking Active TSS	Dnd41	blood
25	chr4:119095800-119096000	Flanking Active TSS	Fetal Lung	lung
26	chr4:119095800-119096400	Enhancers	Fetal Brain Male	brain
27	chr4:119095800-119096800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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