Variant report

Variant	rs55862034
Chromosome Location	chr2:172382840-172382841
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172381109..172383253-chr2:172401135..172403233,2	K562	blood:
2	chr2:172380578..172383300-chr2:172395054..172396804,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1047023	0.83[ASN][1000 genomes]
rs1047109	0.83[ASN][1000 genomes]
rs1047255	0.83[ASN][1000 genomes]
rs17221848	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17222641	0.83[ASN][1000 genomes]
rs17288588	0.83[ASN][1000 genomes]
rs3821083	0.83[ASN][1000 genomes]
rs55852614	0.83[ASN][1000 genomes]
rs55877758	0.83[ASN][1000 genomes]
rs56228832	0.83[ASN][1000 genomes]
rs56372408	0.83[ASN][1000 genomes]
rs56412116	0.86[EUR][1000 genomes]
rs72884306	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72884332	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72884356	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72884400	0.83[ASN][1000 genomes]
rs72885909	0.83[ASN][1000 genomes]
rs72885911	0.83[ASN][1000 genomes]
rs72885915	0.83[ASN][1000 genomes]
rs72885917	0.83[ASN][1000 genomes]
rs7585974	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs55862034	CYBRD1	cis	Esophagus Muscularis	GTEx
rs55862034	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL
rs55862034	CYBRD1	cis	Thyroid	GTEx
rs55862034	CYBRD1	cis	Artery Tibial	GTEx
rs55862034	CYBRD1	cis	Whole Blood	GTEx

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172380600-172387400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172381000-172387000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:172381000-172388000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:172381000-172388000	Weak transcription	Small Intestine	intestine
5	chr2:172381000-172394800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:172381000-172397800	Weak transcription	Gastric	stomach
7	chr2:172381000-172397800	Weak transcription	Left Ventricle	heart
8	chr2:172381000-172410400	Weak transcription	Fetal Thymus	thymus
9	chr2:172381200-172385600	Weak transcription	Aorta	Aorta
10	chr2:172381200-172386200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:172381200-172386200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:172381200-172386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:172381200-172386200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:172381200-172386200	Weak transcription	K562	blood
15	chr2:172381200-172386800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:172381200-172387000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:172381200-172387000	Weak transcription	Brain Substantia Nigra	brain
18	chr2:172381200-172387200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:172381200-172387400	Weak transcription	Brain Angular Gyrus	brain
20	chr2:172381200-172387400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr2:172381200-172387800	Weak transcription	NH-A	brain
22	chr2:172381200-172388400	Weak transcription	A549	lung
23	chr2:172381200-172404400	Weak transcription	Right Atrium	heart
24	chr2:172381200-172407200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:172381200-172410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:172381400-172385600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:172381400-172386800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:172381400-172386800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:172381400-172386800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:172381400-172387000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:172381400-172388000	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:172381400-172388600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:172381400-172397600	Weak transcription	Brain Anterior Caudate	brain
34	chr2:172381400-172405400	Weak transcription	Fetal Heart	heart
35	chr2:172381600-172386800	Weak transcription	Osteobl	bone
36	chr2:172381800-172383200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:172381800-172384000	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:172381800-172385000	Weak transcription	Fetal Lung	lung
39	chr2:172381800-172386000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:172381800-172386200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:172381800-172388400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:172382000-172384000	Weak transcription	HSMMtube	muscle
43	chr2:172382000-172385200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:172382000-172386000	Weak transcription	Adipose Nuclei	Adipose
45	chr2:172382000-172386200	Weak transcription	Ovary	ovary
46	chr2:172382000-172386400	Weak transcription	NHDF-Ad	bronchial
47	chr2:172382000-172386600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:172382000-172387000	Weak transcription	HUVEC	blood vessel
49	chr2:172382000-172387000	Weak transcription	NHLF	lung
50	chr2:172382000-172397800	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links