Variant report

Variant	rs59435073
Chromosome Location	chr4:151172930-151172931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:151171638..151173880-chr4:151176140..151178185,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10520053	0.81[ASN][1000 genomes]
rs1080195	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17503902	0.81[ASN][1000 genomes]
rs17588356	0.81[ASN][1000 genomes]
rs1824406	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2085722	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2290846	0.83[ASN][1000 genomes]
rs3749574	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4696646	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4696651	0.82[AMR][1000 genomes]
rs4696659	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4696660	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55728314	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56169929	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62344508	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6817154	0.81[ASN][1000 genomes]
rs6852279	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7656639	0.81[ASN][1000 genomes]
rs7657457	0.81[ASN][1000 genomes]
rs7686693	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1022132	chr4:151162048-151183859	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	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
8	esv3439913	chr4:151171027-151173875	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv880258	chr4:151171082-151190804	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3435619	chr4:151171352-151174050	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3420103	chr4:151171702-151173500	Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59435073	LRBA	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151139600-151177400	Weak transcription	Brain Substantia Nigra	brain
2	chr4:151139600-151181000	Weak transcription	Brain Angular Gyrus	brain
3	chr4:151140000-151175000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:151152400-151176400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:151156200-151173000	Weak transcription	Fetal Intestine Small	intestine
6	chr4:151156400-151174200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:151158000-151181000	Weak transcription	Fetal Heart	heart
8	chr4:151158200-151173000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:151159000-151173000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:151160000-151185400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:151161200-151173000	Weak transcription	Brain Anterior Caudate	brain
12	chr4:151161600-151177400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:151164000-151177400	Weak transcription	Placenta	Placenta
14	chr4:151166200-151175000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:151166400-151176400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:151166400-151176600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:151166400-151177800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:151166400-151178000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:151166400-151181000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:151166400-151199000	Weak transcription	Gastric	stomach
21	chr4:151166600-151173000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:151166600-151173200	Weak transcription	Fetal Lung	lung
23	chr4:151166600-151173600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:151166600-151175000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:151166600-151181000	Weak transcription	Fetal Kidney	kidney
26	chr4:151167600-151176600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:151168000-151178000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:151168400-151173000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr4:151169000-151173000	Weak transcription	A549	lung
30	chr4:151169000-151174400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:151169800-151181000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr4:151170000-151173600	Weak transcription	Left Ventricle	heart
33	chr4:151170000-151174000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:151170000-151187000	Weak transcription	NH-A	brain
35	chr4:151170000-151199000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:151170200-151173000	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:151170600-151175400	Weak transcription	HepG2	liver
38	chr4:151171000-151173000	Weak transcription	Fetal Brain Female	brain
39	chr4:151171000-151173000	Weak transcription	HSMMtube	muscle
40	chr4:151171200-151173600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr4:151171200-151186800	Weak transcription	Pancreas	Pancrea
42	chr4:151171400-151173000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:151171400-151173000	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:151171400-151173400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:151171400-151177000	Weak transcription	Lung	lung
46	chr4:151171800-151173200	Weak transcription	Osteobl	bone
47	chr4:151171800-151173400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:151171800-151173600	Weak transcription	Aorta	Aorta
49	chr4:151171800-151173800	Weak transcription	Fetal Muscle Leg	muscle
50	chr4:151171800-151174000	Weak transcription	Ovary	ovary

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