Variant report

Variant	rs62183550
Chromosome Location	chr2:172377784-172377785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr2:172377597-172377802	GM12878	blood:	n/a	n/a
2	CBX3	chr2:172377754-172378178	K562	blood:	n/a	n/a
3	TEAD4	chr2:172377597-172380881	K562	blood:	n/a	n/a
4	GATA1	chr2:172377760-172379435	PBDE	blood:	n/a	n/a
5	RCOR1	chr2:172377757-172379094	K562	blood:	n/a	n/a

No data

(count:6 , 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:
6	chr2:172376132..172377971-chr2:172413004..172415455,2	MCF-7	breast:

No data

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

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12476341	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13428567	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2356783	0.81[EUR][1000 genomes]
rs4467241	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62181670	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6730441	0.81[EUR][1000 genomes]
rs6734372	0.81[EUR][1000 genomes]
rs6741930	0.81[AMR][1000 genomes]
rs6743679	0.81[EUR][1000 genomes]
rs6751911	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7586144	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7586174	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs884408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62183550	METTL8	cis	Esophagus Muscularis	GTEx
rs62183550	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172367000-172378000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172370800-172378400	Weak transcription	Right Ventricle	heart
3	chr2:172373000-172378000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:172373200-172378200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:172373200-172378200	Weak transcription	Osteobl	bone
6	chr2:172373400-172378000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:172373400-172378000	Weak transcription	HSMM	muscle
8	chr2:172373600-172377800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:172373600-172377800	Weak transcription	NHDF-Ad	bronchial
10	chr2:172373600-172378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:172373600-172378200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:172373600-172378200	Weak transcription	NH-A	brain
13	chr2:172373600-172378400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:172373600-172378800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:172373800-172377800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:172374400-172378400	Weak transcription	Placenta	Placenta
17	chr2:172375800-172377800	Enhancers	HSMMtube	muscle
18	chr2:172375800-172377800	Enhancers	K562	blood
19	chr2:172375800-172378000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:172375800-172378000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:172376200-172378000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:172376200-172378000	Enhancers	GM12878-XiMat	blood
23	chr2:172376400-172378400	Enhancers	Fetal Muscle Leg	muscle
24	chr2:172376400-172378400	Enhancers	Left Ventricle	heart
25	chr2:172376600-172378000	Enhancers	Brain Hippocampus Middle	brain
26	chr2:172376600-172378400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr2:172376600-172378400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:172376800-172378000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:172376800-172378000	Weak transcription	Ovary	ovary
30	chr2:172376800-172378200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:172376800-172378200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:172377000-172378200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:172377000-172378400	Enhancers	Fetal Thymus	thymus
34	chr2:172377200-172378200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:172377200-172378200	Weak transcription	Right Atrium	heart
36	chr2:172377200-172378400	Enhancers	Brain Anterior Caudate	brain
37	chr2:172377400-172377800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:172377400-172378200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr2:172377400-172378200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
40	chr2:172377400-172378200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:172377400-172378200	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr2:172377400-172378600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:172377600-172377800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:172377600-172378000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:172377600-172378000	Weak transcription	Brain Substantia Nigra	brain
46	chr2:172377600-172378200	Enhancers	Primary hematopoietic stem cells	blood
47	chr2:172377600-172378400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr2:172377600-172378400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:172377600-172378400	Enhancers	Primary monocytes fromperipheralblood	blood

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