Variant report

Variant	rs6996090
Chromosome Location	chr8:48373561-48373562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11992284	0.83[AMR][1000 genomes]
rs11998024	0.83[AMR][1000 genomes]
rs2087494	0.83[AMR][1000 genomes]
rs2087655	1.00[AMR][1000 genomes]
rs41528455	1.00[AMR][1000 genomes]
rs61735903	1.00[AMR][1000 genomes]
rs7001666	1.00[AMR][1000 genomes]
rs7009817	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48312800-48377000	Weak transcription	Esophagus	oesophagus
2	chr8:48328600-48374600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr8:48351400-48387000	Weak transcription	Left Ventricle	heart
4	chr8:48353000-48374400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:48353000-48390600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:48353400-48374600	Weak transcription	Fetal Kidney	kidney
7	chr8:48353400-48374600	Weak transcription	HSMMtube	muscle
8	chr8:48353400-48382000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:48358400-48374600	Weak transcription	Psoas Muscle	Psoas
10	chr8:48361800-48376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:48362400-48373800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:48362800-48387400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:48362800-48387600	Weak transcription	Ovary	ovary
14	chr8:48363200-48376400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:48363400-48374600	Weak transcription	A549	lung
16	chr8:48364200-48374600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:48364200-48374600	Weak transcription	Lung	lung
18	chr8:48364400-48374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:48364600-48374600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:48364600-48384400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr8:48364600-48386000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:48364800-48373600	Weak transcription	Primary B cells from cord blood	blood
23	chr8:48364800-48373800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:48364800-48374400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:48364800-48374600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:48364800-48374600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:48364800-48374600	Weak transcription	HSMM	muscle
28	chr8:48364800-48376000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:48364800-48376200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr8:48364800-48377000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:48369000-48374000	Weak transcription	Fetal Lung	lung
32	chr8:48370000-48374800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:48370400-48373800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr8:48370800-48374600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:48371200-48376000	Weak transcription	Hela-S3	cervix
36	chr8:48371400-48374600	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr8:48371600-48376200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:48371800-48374800	Weak transcription	K562	blood
39	chr8:48371800-48380400	Weak transcription	Thymus	Thymus
40	chr8:48372000-48376400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:48372200-48379000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:48372400-48374000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr8:48372400-48374600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr8:48372400-48374600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr8:48372800-48375200	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr8:48372800-48376200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:48372800-48383400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr8:48373200-48374400	Weak transcription	Dnd41	blood
49	chr8:48373200-48374400	Weak transcription	GM12878-XiMat	blood
50	chr8:48373200-48374600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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