Variant report

Variant	rs151054210
Chromosome Location	chr2:172381487-172381488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172381109..172383253-chr2:172401135..172403233,2	K562	blood:
2	chr2:172380578..172383300-chr2:172395054..172396804,2	K562	blood:
3	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:

Variant related genes	Relation type
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 4 )

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	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
2	esv3411053	chr2:172381317-172381536	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs151054210	CYBRD1	cis	Esophagus Muscularis	GTEx
rs151054210	CYBRD1	cis	Thyroid	GTEx
rs151054210	CYBRD1	cis	Whole Blood	GTEx
rs151054210	CYBRD1	cis	Artery Tibial	GTEx

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172378800-172381600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:172380600-172387400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:172380800-172382000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr2:172381000-172381800	Enhancers	Fetal Muscle Trunk	muscle
5	chr2:172381000-172381800	Active TSS	Stomach Smooth Muscle	stomach
6	chr2:172381000-172382000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:172381000-172382000	Enhancers	HUVEC	blood vessel
8	chr2:172381000-172387000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:172381000-172388000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:172381000-172388000	Weak transcription	Small Intestine	intestine
11	chr2:172381000-172394800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:172381000-172397800	Weak transcription	Gastric	stomach
13	chr2:172381000-172397800	Weak transcription	Left Ventricle	heart
14	chr2:172381000-172410400	Weak transcription	Fetal Thymus	thymus
15	chr2:172381200-172381600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:172381200-172381600	Enhancers	Osteobl	bone
17	chr2:172381200-172381800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:172381200-172381800	Enhancers	Fetal Lung	lung
19	chr2:172381200-172381800	Enhancers	Fetal Muscle Leg	muscle
20	chr2:172381200-172382000	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:172381200-172382000	Enhancers	Adipose Nuclei	Adipose
22	chr2:172381200-172382000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:172381200-172382000	Enhancers	Fetal Stomach	stomach
24	chr2:172381200-172382000	Enhancers	Ovary	ovary
25	chr2:172381200-172382200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:172381200-172382200	Enhancers	Colon Smooth Muscle	Colon
27	chr2:172381200-172382200	Enhancers	GM12878-XiMat	blood
28	chr2:172381200-172382200	Enhancers	NHEK	skin
29	chr2:172381200-172382400	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:172381200-172385600	Weak transcription	Aorta	Aorta
31	chr2:172381200-172386200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:172381200-172386200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:172381200-172386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:172381200-172386200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:172381200-172386200	Weak transcription	K562	blood
36	chr2:172381200-172386800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr2:172381200-172387000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:172381200-172387000	Weak transcription	Brain Substantia Nigra	brain
39	chr2:172381200-172387200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:172381200-172387400	Weak transcription	Brain Angular Gyrus	brain
41	chr2:172381200-172387400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:172381200-172387800	Weak transcription	NH-A	brain
43	chr2:172381200-172388400	Weak transcription	A549	lung
44	chr2:172381200-172404400	Weak transcription	Right Atrium	heart
45	chr2:172381200-172407200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:172381200-172410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:172381400-172381600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:172381400-172381600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:172381400-172381600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:172381400-172381600	Weak transcription	HSMM	muscle

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