Variant report

Variant	rs6821618
Chromosome Location	chr4:151097392-151097393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11946241	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13125688	0.82[ASN][1000 genomes]
rs1814207	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6535714	0.81[AMR][1000 genomes]
rs6535715	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6535716	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7670292	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9884660	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026797	chr4:150246932-151217137	Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1032689	chr4:150971003-151316856	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv537300	chr4:150971003-151316856	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv3412514	chr4:151095502-151097400	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6821618	LRBA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151045200-151099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:151085400-151097400	Weak transcription	Ovary	ovary
3	chr4:151091600-151104800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:151094200-151098200	Enhancers	Fetal Muscle Leg	muscle
5	chr4:151094800-151097400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:151095200-151097400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:151095200-151097400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:151095400-151097400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:151095400-151097400	Weak transcription	Right Atrium	heart
10	chr4:151095400-151098000	Enhancers	Brain Anterior Caudate	brain
11	chr4:151095400-151100000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:151095400-151101400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:151095600-151097400	Weak transcription	NH-A	brain
14	chr4:151095600-151097400	Weak transcription	NHLF	lung
15	chr4:151095600-151097600	Weak transcription	Brain Substantia Nigra	brain
16	chr4:151095600-151097600	Weak transcription	A549	lung
17	chr4:151095800-151097400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:151095800-151097400	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:151096000-151099800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:151096200-151100000	Enhancers	HSMMtube	muscle
21	chr4:151096400-151097800	Enhancers	Stomach Smooth Muscle	stomach
22	chr4:151096400-151098000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:151096400-151098000	Enhancers	Left Ventricle	heart
24	chr4:151096400-151100000	Enhancers	Fetal Brain Male	brain
25	chr4:151096600-151097600	Enhancers	Lung	lung
26	chr4:151096600-151097600	Enhancers	Right Ventricle	heart
27	chr4:151096600-151098000	Enhancers	Placenta	Placenta
28	chr4:151096600-151098200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr4:151096600-151098200	Enhancers	Fetal Stomach	stomach
30	chr4:151096600-151098400	Enhancers	NHEK	skin
31	chr4:151096800-151097400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr4:151096800-151097600	Enhancers	Fetal Kidney	kidney
33	chr4:151096800-151098400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:151096800-151100000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:151096800-151100000	Enhancers	NHDF-Ad	bronchial
36	chr4:151097000-151097400	Enhancers	Fetal Heart	heart
37	chr4:151097000-151097400	Enhancers	Fetal Thymus	thymus
38	chr4:151097000-151097600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:151097000-151097600	Enhancers	Aorta	Aorta
40	chr4:151097000-151097600	Enhancers	Pancreas	Pancrea
41	chr4:151097000-151097600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr4:151097000-151097800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:151097000-151098000	Enhancers	Brain Angular Gyrus	brain
44	chr4:151097000-151098200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:151097000-151098400	Enhancers	Colon Smooth Muscle	Colon
46	chr4:151097000-151098600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr4:151097000-151100200	Enhancers	Fetal Brain Female	brain
48	chr4:151097200-151097600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:151097200-151097600	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr4:151097200-151098000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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