Variant report

Variant	rs35380972
Chromosome Location	chr2:172381948-172381949
allele	A/C
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: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13020413	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13403066	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406134	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558938	0.90[EUR][1000 genomes]
rs34186168	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731976	0.92[EUR][1000 genomes]
rs58126733	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730957	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734880	0.83[ASN][1000 genomes]
rs6759240	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35380972	CYBRD1	cis	Artery Tibial	GTEx

Chromatin state (count:65 , 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	chr2:172380800-172382000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr2:172381000-172382000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:172381000-172382000	Enhancers	HUVEC	blood vessel
5	chr2:172381000-172387000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:172381000-172388000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:172381000-172388000	Weak transcription	Small Intestine	intestine
8	chr2:172381000-172394800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:172381000-172397800	Weak transcription	Gastric	stomach
10	chr2:172381000-172397800	Weak transcription	Left Ventricle	heart
11	chr2:172381000-172410400	Weak transcription	Fetal Thymus	thymus
12	chr2:172381200-172382000	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:172381200-172382000	Enhancers	Adipose Nuclei	Adipose
14	chr2:172381200-172382000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:172381200-172382000	Enhancers	Fetal Stomach	stomach
16	chr2:172381200-172382000	Enhancers	Ovary	ovary
17	chr2:172381200-172382200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:172381200-172382200	Enhancers	Colon Smooth Muscle	Colon
19	chr2:172381200-172382200	Enhancers	GM12878-XiMat	blood
20	chr2:172381200-172382200	Enhancers	NHEK	skin
21	chr2:172381200-172382400	Enhancers	Duodenum Mucosa	Duodenum
22	chr2:172381200-172385600	Weak transcription	Aorta	Aorta
23	chr2:172381200-172386200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:172381200-172386200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:172381200-172386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:172381200-172386200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:172381200-172386200	Weak transcription	K562	blood
28	chr2:172381200-172386800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:172381200-172387000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:172381200-172387000	Weak transcription	Brain Substantia Nigra	brain
31	chr2:172381200-172387200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:172381200-172387400	Weak transcription	Brain Angular Gyrus	brain
33	chr2:172381200-172387400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:172381200-172387800	Weak transcription	NH-A	brain
35	chr2:172381200-172388400	Weak transcription	A549	lung
36	chr2:172381200-172404400	Weak transcription	Right Atrium	heart
37	chr2:172381200-172407200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:172381200-172410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:172381400-172382000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:172381400-172382000	Active TSS	HSMMtube	muscle
41	chr2:172381400-172382000	Enhancers	NHDF-Ad	bronchial
42	chr2:172381400-172385600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:172381400-172386800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:172381400-172386800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:172381400-172386800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr2:172381400-172387000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:172381400-172388000	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:172381400-172388600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:172381400-172397600	Weak transcription	Brain Anterior Caudate	brain
50	chr2:172381400-172405400	Weak transcription	Fetal Heart	heart

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