Variant report

Variant	rs7842714
Chromosome Location	chr8:65711004-65711005
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10112206	0.80[EUR][1000 genomes]
rs12548518	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13252547	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4461935	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6472147	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7842714	RP11-1D12.2	cis	Whole Blood	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65707600-65712000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:65709400-65711400	Active TSS	GM12878-XiMat	blood
3	chr8:65709600-65711800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:65709600-65711800	Active TSS	Duodenum Mucosa	Duodenum
5	chr8:65709800-65711200	Active TSS	Fetal Muscle Trunk	muscle
6	chr8:65709800-65711400	Active TSS	Ovary	ovary
7	chr8:65709800-65711400	Active TSS	Right Atrium	heart
8	chr8:65709800-65711400	Active TSS	Stomach Smooth Muscle	stomach
9	chr8:65709800-65711800	Active TSS	Placenta Amnion	Placenta Amnion
10	chr8:65709800-65712000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:65710000-65711600	Active TSS	Colon Smooth Muscle	Colon
12	chr8:65710000-65712000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr8:65710000-65712000	Active TSS	Fetal Kidney	kidney
14	chr8:65710200-65711400	Active TSS	Fetal Muscle Leg	muscle
15	chr8:65710200-65711600	Active TSS	Brain Hippocampus Middle	brain
16	chr8:65710200-65712000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr8:65710200-65712200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr8:65710400-65711400	Active TSS	Fetal Intestine Large	intestine
19	chr8:65710400-65711400	Active TSS	Right Ventricle	heart
20	chr8:65710400-65711600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:65710400-65711600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:65710400-65711600	Active TSS	Brain Germinal Matrix	brain
23	chr8:65710400-65711600	Active TSS	Brain Substantia Nigra	brain
24	chr8:65710400-65711600	Active TSS	Fetal Stomach	stomach
25	chr8:65710400-65711600	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr8:65710400-65711800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:65710400-65711800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:65710400-65711800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:65710400-65711800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:65710400-65712000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr8:65710400-65712000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr8:65710400-65712000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr8:65710600-65711200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:65710600-65711200	Active TSS	Spleen	Spleen
35	chr8:65710600-65711400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:65710600-65711400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:65710600-65711400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:65710600-65711400	Active TSS	Left Ventricle	heart
39	chr8:65710600-65711400	Active TSS	Stomach Mucosa	stomach
40	chr8:65710600-65711400	Active TSS	NHLF	lung
41	chr8:65710600-65711600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr8:65710600-65711600	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr8:65710600-65711600	Active TSS	A549	lung
44	chr8:65710600-65711800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:65710600-65711800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr8:65710600-65711800	Active TSS	Brain Cingulate Gyrus	brain
47	chr8:65710600-65711800	Active TSS	Colonic Mucosa	Colon
48	chr8:65710600-65711800	Active TSS	Lung	lung
49	chr8:65710600-65711800	Active TSS	Psoas Muscle	Psoas
50	chr8:65710600-65711800	Active TSS	NH-A	brain

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