Variant report

Variant	rs1558938
Chromosome Location	chr2:172378207-172378208
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:172377936-172379062	K562	blood:	n/a	chr2:172378829-172378838 chr2:172378822-172378838
2	NR2F2	chr2:172377897-172380493	K562	blood:	n/a	n/a
3	YY1	chr2:172378156-172379210	GM12878	blood:	n/a	chr2:172378827-172378838
4	ARID3A	chr2:172377926-172378328	K562	blood:	n/a	n/a
5	GATA2	chr2:172377873-172378300	K562	blood:	n/a	n/a
6	CHD2	chr2:172378172-172379066	K562	blood:	n/a	n/a
7	POLR2A	chr2:172378089-172380704	GM12891	blood:	n/a	n/a
8	TRIM28	chr2:172377903-172379123	K562	blood:	n/a	n/a
9	TEAD4	chr2:172377597-172380881	K562	blood:	n/a	n/a
10	MYC	chr2:172377892-172380411	K562	blood:	n/a	n/a
11	IRF1	chr2:172378064-172379145	K562	blood:	n/a	n/a
12	GATA1	chr2:172377760-172379435	PBDE	blood:	n/a	n/a
13	POLR2A	chr2:172377948-172378235	K562	blood:	n/a	n/a
14	POLR2A	chr2:172378036-172380795	K562	blood:	n/a	n/a
15	RCOR1	chr2:172377757-172379094	K562	blood:	n/a	n/a
16	CEBPB	chr2:172378000-172378690	K562	blood:	n/a	n/a
17	TEAD4	chr2:172377897-172379099	K562	blood:	n/a	n/a
18	TBP	chr2:172377950-172380768	K562	blood:	n/a	n/a
19	TAL1	chr2:172377913-172378324	K562	blood:	n/a	n/a
20	RCOR1	chr2:172377915-172379186	K562	blood:	n/a	n/a
21	POLR2A	chr2:172378078-172379392	PBDE	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172288399..172293582-chr2:172376630..172381034,10	K562	blood:
2	chr2:172344598..172348821-chr2:172376554..172380965,4	K562	blood:
3	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:
4	chr2:171784693..171786944-chr2:172376735..172379477,2	K562	blood:
5	chr2:172377500..172380432-chr2:172864656..172866178,2	K562	blood:

No data

Variant related genes	Relation type
CYBRD1	TF binding region
ENSG00000233762	TF binding region
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000115840	Chromatin interaction
ENSG00000228507	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000172878	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13020413	0.90[EUR][1000 genomes]
rs13403066	0.90[EUR][1000 genomes]
rs13406134	0.89[EUR][1000 genomes]
rs34186168	0.90[EUR][1000 genomes]
rs35380972	0.90[EUR][1000 genomes]
rs3731976	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58126733	0.90[EUR][1000 genomes]
rs6730957	0.90[EUR][1000 genomes]
rs6759240	0.90[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1558938	CYBRD1	cis	Artery Tibial	GTEx
rs1558938	CYBRD1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172370800-172378400	Weak transcription	Right Ventricle	heart
2	chr2:172373600-172378400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:172373600-172378800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:172374400-172378400	Weak transcription	Placenta	Placenta
5	chr2:172376400-172378400	Enhancers	Fetal Muscle Leg	muscle
6	chr2:172376400-172378400	Enhancers	Left Ventricle	heart
7	chr2:172376600-172378400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:172376600-172378400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:172377000-172378400	Enhancers	Fetal Thymus	thymus
10	chr2:172377200-172378400	Enhancers	Brain Anterior Caudate	brain
11	chr2:172377400-172378600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:172377600-172378400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:172377600-172378400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:172377600-172378400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:172377800-172378400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr2:172377800-172378400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:172377800-172378400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr2:172377800-172378400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr2:172377800-172378400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:172377800-172378400	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:172377800-172378400	Enhancers	Duodenum Mucosa	Duodenum
22	chr2:172377800-172378400	Enhancers	Fetal Stomach	stomach
23	chr2:172377800-172378400	Enhancers	NHDF-Ad	bronchial
24	chr2:172377800-172378800	Flanking Active TSS	HSMMtube	muscle
25	chr2:172377800-172378800	Flanking Active TSS	K562	blood
26	chr2:172378000-172378400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr2:172378000-172378400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:172378000-172378400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:172378000-172378400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:172378000-172378400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:172378000-172378400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:172378000-172378400	Enhancers	Brain Substantia Nigra	brain
33	chr2:172378000-172378400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr2:172378000-172378400	Enhancers	Fetal Lung	lung
35	chr2:172378000-172378400	Enhancers	Ovary	ovary
36	chr2:172378000-172378400	Enhancers	Rectal Smooth Muscle	rectum
37	chr2:172378000-172378400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
38	chr2:172378000-172378400	Flanking Active TSS	GM12878-XiMat	blood
39	chr2:172378000-172378400	Bivalent Enhancer	HepG2	liver
40	chr2:172378000-172378400	Enhancers	HUVEC	blood vessel
41	chr2:172378000-172378400	Enhancers	NHLF	lung
42	chr2:172378000-172378600	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr2:172378000-172378600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr2:172378000-172378800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr2:172378000-172378800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:172378000-172378800	Enhancers	Fetal Heart	heart
47	chr2:172378000-172378800	Enhancers	Pancreas	Pancrea
48	chr2:172378000-172379000	Enhancers	Stomach Mucosa	stomach
49	chr2:172378200-172378400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:172378200-172378400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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