Variant report

Variant	rs1813250
Chromosome Location	chr4:151198336-151198337
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10520053	0.80[EUR][1000 genomes]
rs11059	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134607	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2085723	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2085724	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6535727	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817154	0.81[EUR][1000 genomes]
rs7657086	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7661359	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7691260	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999784	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	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	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv880257	chr4:151170387-151231371	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1813250	LRBA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151166400-151199000	Weak transcription	Gastric	stomach
2	chr4:151170000-151199000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:151172800-151201600	Weak transcription	GM12878-XiMat	blood
4	chr4:151173400-151201400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:151176400-151202800	Weak transcription	Psoas Muscle	Psoas
6	chr4:151178200-151204200	Weak transcription	Colonic Mucosa	Colon
7	chr4:151178400-151201400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:151178400-151201600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:151178400-151208600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:151180000-151198800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:151180400-151201200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:151181400-151198800	Weak transcription	Spleen	Spleen
13	chr4:151181400-151201800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:151181600-151198600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:151181600-151202000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:151181600-151202000	Weak transcription	Fetal Kidney	kidney
17	chr4:151181600-151203400	Weak transcription	Right Ventricle	heart
18	chr4:151181800-151201600	Weak transcription	Brain Angular Gyrus	brain
19	chr4:151181800-151209000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:151182000-151198800	Weak transcription	Esophagus	oesophagus
21	chr4:151182000-151201200	Weak transcription	Fetal Heart	heart
22	chr4:151182600-151208000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr4:151184600-151199000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr4:151184800-151209200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:151185000-151202000	Weak transcription	K562	blood
26	chr4:151186200-151200800	Weak transcription	NHLF	lung
27	chr4:151186200-151208000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:151186400-151204800	Weak transcription	Placenta	Placenta
29	chr4:151187200-151199000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:151187400-151198800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:151187600-151198800	Weak transcription	Thymus	Thymus
32	chr4:151187600-151199000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:151187600-151200400	Weak transcription	HSMM	muscle
34	chr4:151187600-151202000	Weak transcription	Left Ventricle	heart
35	chr4:151187600-151206000	Weak transcription	Dnd41	blood
36	chr4:151187800-151198600	Weak transcription	Fetal Thymus	thymus
37	chr4:151187800-151199400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:151187800-151200400	Weak transcription	NH-A	brain
39	chr4:151187800-151200400	Weak transcription	Osteobl	bone
40	chr4:151187800-151200600	Weak transcription	HSMMtube	muscle
41	chr4:151187800-151201400	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:151187800-151202400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr4:151188000-151200200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:151188000-151200200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:151188000-151201400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:151188600-151201400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr4:151189000-151198400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr4:151189800-151200600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:151190200-151204600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr4:151190600-151201400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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