Variant report

Variant	rs1464278
Chromosome Location	chr8:120983850-120983851
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:8)

rs_ID	r²[population]
rs1554376	0.83[CEU][hapmap]
rs1814954	0.81[ASN][1000 genomes]
rs1914992	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2102905	0.91[CEU][hapmap]
rs28650977	0.83[ASN][1000 genomes]
rs2875929	0.92[CEU][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35767723	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4871819	0.83[CEU][hapmap]

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	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
2	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
3	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
4	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
5	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr8:120968800-120987800	Weak transcription	Placenta	Placenta
2	chr8:120968800-120988800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:120976000-120986000	Weak transcription	Thymus	Thymus
4	chr8:120976800-120984400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:120977200-120984200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:120977200-120984800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:120977400-120984400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:120977800-120985800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:120977800-120994600	Weak transcription	Fetal Lung	lung
10	chr8:120978000-120984600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:120978000-120985600	Weak transcription	Brain Germinal Matrix	brain
12	chr8:120978000-120985600	Weak transcription	Spleen	Spleen
13	chr8:120978000-120986000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:120978000-120994800	Weak transcription	Esophagus	oesophagus
15	chr8:120978000-120994800	Weak transcription	Right Ventricle	heart
16	chr8:120978000-121013600	Weak transcription	Gastric	stomach
17	chr8:120978200-120984600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:120978400-120985600	Weak transcription	Brain Angular Gyrus	brain
19	chr8:120978400-120993200	Weak transcription	Primary T cells from cord blood	blood
20	chr8:120978400-120993200	Weak transcription	Brain Anterior Caudate	brain
21	chr8:120978800-120984000	Weak transcription	Pancreas	Pancrea
22	chr8:120979000-120990600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:120979200-120986000	Weak transcription	Brain Substantia Nigra	brain
24	chr8:120979200-120987600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:120979400-120985400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:120979400-120994800	Weak transcription	Left Ventricle	heart
27	chr8:120979600-120988800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:120979800-120985800	Weak transcription	Adipose Nuclei	Adipose
29	chr8:120980400-120985600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:120980400-120985800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:120981000-120984000	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:120981200-120984000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:120981400-120985400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:120981400-120985400	Weak transcription	Psoas Muscle	Psoas
35	chr8:120981400-120985600	Weak transcription	Fetal Stomach	stomach
36	chr8:120981400-120985600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr8:120981400-120986600	Weak transcription	Osteobl	bone
38	chr8:120981600-120992600	Enhancers	Fetal Intestine Large	intestine
39	chr8:120981800-120984200	Enhancers	Liver	Liver
40	chr8:120981800-120985200	Enhancers	Stomach Mucosa	stomach
41	chr8:120982200-120984600	Enhancers	Fetal Kidney	kidney
42	chr8:120982200-120985800	Weak transcription	Brain Hippocampus Middle	brain
43	chr8:120982600-120986000	Enhancers	Duodenum Mucosa	Duodenum
44	chr8:120982600-120987200	Enhancers	Fetal Intestine Small	intestine
45	chr8:120983200-120985600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:120983200-120989800	Weak transcription	Small Intestine	intestine
47	chr8:120983400-120994800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:120983600-120984000	Weak transcription	Colonic Mucosa	Colon
49	chr8:120983600-120984800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr8:120983600-120987800	Enhancers	Colon Smooth Muscle	Colon

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