Variant report

Variant	rs2448612
Chromosome Location	chr8:6482706-6482707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1808474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2433152	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2454523	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28669035	1.00[AMR][1000 genomes]
rs2911997	1.00[AMR][1000 genomes]
rs2912002	1.00[AMR][1000 genomes]
rs2912066	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56954220	1.00[AMR][1000 genomes]
rs57870373	1.00[AMR][1000 genomes]
rs59005321	1.00[AMR][1000 genomes]
rs59798994	1.00[AMR][1000 genomes]
rs61067608	1.00[AMR][1000 genomes]
rs61422368	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv3506199	chr8:6116693-6536592	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
4	esv3506200	chr8:6116693-6536592	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
12	nsv1025976	chr8:6472948-6686972	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6458000-6498400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:6472400-6486200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:6474200-6486400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:6474200-6505200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:6474600-6483000	Weak transcription	Fetal Lung	lung
6	chr8:6474600-6488800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:6474800-6483600	Weak transcription	Fetal Heart	heart
8	chr8:6474800-6483600	Weak transcription	K562	blood
9	chr8:6474800-6498400	Weak transcription	HSMM	muscle
10	chr8:6475200-6482800	Weak transcription	Hela-S3	cervix
11	chr8:6476200-6484400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:6476400-6499000	Weak transcription	Brain Angular Gyrus	brain
13	chr8:6476400-6502800	Weak transcription	Colonic Mucosa	Colon
14	chr8:6477600-6485400	Strong transcription	Dnd41	blood
15	chr8:6477800-6483400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:6477800-6483400	Weak transcription	Osteobl	bone
17	chr8:6478000-6482800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:6478000-6487400	Weak transcription	Small Intestine	intestine
19	chr8:6478200-6484800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:6478200-6494600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:6478400-6484000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:6478400-6498400	Weak transcription	HMEC	breast
23	chr8:6478800-6484200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:6479000-6483200	Strong transcription	Pancreas	Pancrea
25	chr8:6479000-6484000	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr8:6479000-6485000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:6479000-6485200	Strong transcription	Fetal Intestine Small	intestine
28	chr8:6479600-6499800	Weak transcription	Aorta	Aorta
29	chr8:6479800-6483200	Weak transcription	Adipose Nuclei	Adipose
30	chr8:6479800-6484000	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:6479800-6484200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:6480000-6483200	Weak transcription	NHLF	lung
33	chr8:6480000-6484600	Weak transcription	Right Ventricle	heart
34	chr8:6480000-6484800	Weak transcription	Brain Germinal Matrix	brain
35	chr8:6480000-6485000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:6480000-6485200	Strong transcription	Thymus	Thymus
37	chr8:6480000-6486200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:6480000-6502000	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr8:6480200-6483400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:6480200-6483400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:6480200-6483600	Weak transcription	Brain Hippocampus Middle	brain
42	chr8:6480200-6483600	Weak transcription	GM12878-XiMat	blood
43	chr8:6480200-6483800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:6480200-6486800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr8:6480200-6489400	Weak transcription	Brain Substantia Nigra	brain
46	chr8:6480200-6501800	Weak transcription	NHEK	skin
47	chr8:6480200-6502000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr8:6480200-6502600	Weak transcription	Gastric	stomach
49	chr8:6480200-6523800	Weak transcription	Fetal Brain Female	brain
50	chr8:6480400-6482800	Weak transcription	Liver	Liver

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