Variant report

Variant	rs72644595
Chromosome Location	chr8:48244036-48244037
allele	A/G
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:5)

rs_ID	r²[population]
rs55869763	1.00[AMR][1000 genomes]
rs72644583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72646319	1.00[AMR][1000 genomes]
rs72646331	1.00[AMR][1000 genomes]
rs72646345	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	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1032993	chr8:48167423-48246277	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1030486	chr8:48167423-48247297	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48207400-48258000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:48207600-48245600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:48207600-48248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:48209400-48266000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:48216200-48249600	Weak transcription	Ovary	ovary
6	chr8:48216200-48252400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:48223400-48252600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr8:48228200-48246200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:48228200-48248800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr8:48228200-48251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:48228200-48254400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:48228200-48256000	Weak transcription	Left Ventricle	heart
13	chr8:48228600-48265800	Weak transcription	K562	blood
14	chr8:48230000-48252400	Weak transcription	Lung	lung
15	chr8:48230200-48248200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:48230400-48248200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:48230400-48252200	Weak transcription	Fetal Stomach	stomach
18	chr8:48230400-48256200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:48230400-48267400	Weak transcription	Spleen	Spleen
20	chr8:48230600-48248000	Weak transcription	Fetal Intestine Small	intestine
21	chr8:48230600-48252800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:48236200-48251000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:48236400-48252800	Weak transcription	Pancreas	Pancrea
24	chr8:48237600-48256000	Weak transcription	Esophagus	oesophagus
25	chr8:48238400-48248600	Weak transcription	HMEC	breast
26	chr8:48238600-48248400	Weak transcription	NHEK	skin
27	chr8:48238800-48250800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:48238800-48274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:48239000-48255200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:48239000-48265800	Weak transcription	Aorta	Aorta
31	chr8:48239600-48254200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr8:48240200-48244200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:48240600-48253400	Weak transcription	Placenta	Placenta
34	chr8:48242000-48244200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr8:48242000-48244400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:48242400-48244200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
37	chr8:48242600-48244200	ZNF genes & repeats	Fetal Brain Female	brain
38	chr8:48242600-48244200	ZNF genes & repeats	A549	lung
39	chr8:48242800-48244200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
40	chr8:48242800-48244200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
41	chr8:48242800-48244200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:48242800-48244200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr8:48242800-48244200	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr8:48243000-48244200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:48243000-48244200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:48243000-48244200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr8:48243000-48244200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr8:48243000-48244200	Strong transcription	HSMM	muscle
49	chr8:48243000-48248400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:48243200-48244200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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