Variant report

Variant	rs2594565
Chromosome Location	chr3:81755034-81755035
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:81754177..81756278-chr3:81762683..81765640,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1381301	1.00[AMR][1000 genomes]
rs2594548	1.00[AMR][1000 genomes]
rs2594550	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594563	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2594564	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680244	1.00[AMR][1000 genomes]
rs2680248	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680250	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680251	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680266	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2680269	0.83[AFR][1000 genomes]
rs2680270	1.00[AMR][1000 genomes]
rs4398458	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs820281	1.00[AMR][1000 genomes]
rs843939	1.00[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	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv949545	chr3:81523898-81893929	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1009607	chr3:81651419-81825151	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv536604	chr3:81651419-81825151	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv834749	chr3:81655377-81818880	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81699400-81766000	Weak transcription	NHLF	lung
2	chr3:81713000-81755200	Weak transcription	Lung	lung
3	chr3:81714400-81763600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:81715800-81756200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:81718600-81757600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr3:81726000-81755800	Strong transcription	Dnd41	blood
7	chr3:81726400-81762600	Weak transcription	HMEC	breast
8	chr3:81726600-81755200	Weak transcription	Pancreas	Pancrea
9	chr3:81726800-81766200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:81727200-81792200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:81728000-81755200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr3:81732000-81766400	Weak transcription	HSMMtube	muscle
13	chr3:81734600-81765800	Weak transcription	HepG2	liver
14	chr3:81735600-81764200	Weak transcription	A549	lung
15	chr3:81737400-81762200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:81743600-81762000	Weak transcription	Osteobl	bone
17	chr3:81744200-81772800	Weak transcription	Right Ventricle	heart
18	chr3:81747000-81764000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr3:81747600-81755600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:81748600-81762200	Weak transcription	Aorta	Aorta
21	chr3:81749000-81755200	Weak transcription	Psoas Muscle	Psoas
22	chr3:81749000-81764000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:81749200-81772800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:81749400-81755200	Weak transcription	Left Ventricle	heart
25	chr3:81749400-81755200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr3:81749400-81755400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr3:81749400-81766000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:81749400-81766000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:81749400-81766000	Weak transcription	Adipose Nuclei	Adipose
30	chr3:81750200-81772600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:81753200-81763800	Weak transcription	Liver	Liver
32	chr3:81754200-81762000	Weak transcription	HSMM	muscle
33	chr3:81754200-81762200	Weak transcription	HUVEC	blood vessel
34	chr3:81754400-81762000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:81754400-81766000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:81754600-81755200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:81754800-81757000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:81754800-81766000	Weak transcription	NHDF-Ad	bronchial
39	chr3:81755000-81755800	Enhancers	Primary B cells from cord blood	blood
40	chr3:81755000-81755800	Enhancers	Fetal Heart	heart
41	chr3:81755000-81759000	Enhancers	Primary neutrophils fromperipheralblood	blood

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