Variant report

Variant	rs28668309
Chromosome Location	chr8:120637534-120637535
allele	C/T
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:7)

rs_ID	r²[population]
rs2249015	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2305126	0.80[EUR][1000 genomes]
rs6469835	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6982863	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7012253	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7012371	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs976423	0.80[EUR][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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
3	chr8:120615000-120641800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:120619200-120648000	Weak transcription	Brain Angular Gyrus	brain
5	chr8:120620200-120639200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:120621800-120643400	Weak transcription	Aorta	Aorta
7	chr8:120627800-120649200	Weak transcription	NHLF	lung
8	chr8:120628200-120645400	Strong transcription	NHDF-Ad	bronchial
9	chr8:120628600-120637800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:120631600-120638800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr8:120631600-120638800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:120633200-120638800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr8:120633200-120645400	Weak transcription	Thymus	Thymus
14	chr8:120633400-120647800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr8:120633800-120637800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:120633800-120639800	Weak transcription	Left Ventricle	heart
17	chr8:120634800-120650000	Weak transcription	Primary T cells from cord blood	blood
18	chr8:120635200-120637800	Weak transcription	Brain Hippocampus Middle	brain
19	chr8:120635200-120643000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:120635400-120638000	Weak transcription	Liver	Liver
21	chr8:120635400-120638600	Weak transcription	Brain Anterior Caudate	brain
22	chr8:120635400-120638600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:120635400-120638600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:120635400-120644000	Weak transcription	Fetal Thymus	thymus
25	chr8:120635400-120649200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:120635400-120649400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:120635800-120638600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:120635800-120647200	Weak transcription	Placenta	Placenta
29	chr8:120635800-120648600	Weak transcription	Osteobl	bone
30	chr8:120636200-120638400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:120636800-120639200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:120637000-120637800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr8:120637200-120637600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr8:120637200-120637600	Enhancers	Fetal Kidney	kidney
35	chr8:120637200-120637600	Active TSS	Fetal Lung	lung
36	chr8:120637200-120639000	Strong transcription	Adipose Nuclei	Adipose
37	chr8:120637200-120639200	Enhancers	Brain Substantia Nigra	brain
38	chr8:120637200-120639400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:120637400-120639000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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