Variant report

Variant	rs4627068
Chromosome Location	chr11:8228920-8228921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LMO1-2	chr11:8223002-8230737	NONHSAT017846

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11041807	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4237767	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4559683	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56111207	0.80[ASN][1000 genomes]
rs7936137	0.81[ASN][1000 genomes]
rs7949087	0.82[EUR][1000 genomes];0.95[ASN][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	nsv1054339	chr11:8153582-8263173	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1040979	chr11:8223090-8272605	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4627068	RRP8	cis	cerebellum	SCAN
rs4627068	OR56A4	cis	cerebellum	SCAN

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8225600-8230600	Enhancers	Primary hematopoietic stem cells	blood
2	chr11:8227200-8229000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:8227200-8229200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr11:8227200-8229200	Bivalent Enhancer	Placenta	Placenta
5	chr11:8227200-8229400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:8227200-8229600	Enhancers	Fetal Brain Male	brain
7	chr11:8227400-8229000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:8227600-8229000	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr11:8227600-8229000	Enhancers	Left Ventricle	heart
10	chr11:8227600-8229400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:8227600-8229400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr11:8227600-8229800	Enhancers	Fetal Heart	heart
13	chr11:8227800-8229400	Enhancers	Spleen	Spleen
14	chr11:8228000-8229200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:8228000-8229600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:8228000-8229600	Enhancers	NH-A	brain
17	chr11:8228000-8230000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:8228000-8230000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr11:8228200-8229000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:8228200-8229200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr11:8228400-8229000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:8228400-8229000	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr11:8228400-8229000	Flanking Active TSS	K562	blood
24	chr11:8228400-8229200	Enhancers	Fetal Thymus	thymus
25	chr11:8228400-8229200	Enhancers	Lung	lung
26	chr11:8228400-8229400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr11:8228400-8229400	Enhancers	Right Atrium	heart
28	chr11:8228400-8229600	Bivalent Enhancer	Adipose Nuclei	Adipose
29	chr11:8228600-8229000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:8228600-8229000	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr11:8228600-8229000	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr11:8228600-8229200	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr11:8228600-8229200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:8228600-8229200	Enhancers	Right Ventricle	heart
35	chr11:8228600-8229400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr11:8228600-8229800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:8228600-8229800	Bivalent Enhancer	Fetal Stomach	stomach
38	chr11:8228800-8229000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
39	chr11:8228800-8229000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
40	chr11:8228800-8229000	Bivalent/Poised TSS	Fetal Brain Female	brain
41	chr11:8228800-8229200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:8228800-8229200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:8228800-8229200	Enhancers	Brain Angular Gyrus	brain
44	chr11:8228800-8229200	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr11:8228800-8229200	Enhancers	HUVEC	blood vessel
46	chr11:8228800-8229400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:8228800-8229400	Enhancers	Primary B cells from cord blood	blood
48	chr11:8228800-8229400	Enhancers	Brain Cingulate Gyrus	brain
49	chr11:8228800-8229400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:8228800-8229800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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