Variant report

Variant	rs58922799
Chromosome Location	chr11:46725196-46725197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46724997-46725646	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46722213..46727380-chr11:46743173..46747634,5	MCF-7	breast:

Variant related genes	Relation type
ARHGAP1	TF binding region
ENSG00000180210	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10838612	0.94[ASN][1000 genomes]
rs11038977	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11602036	0.81[AMR][1000 genomes]
rs11602537	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11604876	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12574512	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1799867	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2070850	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2070851	0.89[ASN][1000 genomes]
rs3136441	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3136447	0.89[ASN][1000 genomes]
rs3136449	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3136457	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3136458	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3136460	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3136499	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4076557	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4453193	0.84[AMR][1000 genomes]
rs4453194	0.83[AMR][1000 genomes]
rs4491174	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534535	0.84[AMR][1000 genomes]
rs4603265	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4752927	0.82[ASN][1000 genomes]
rs4752931	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4752932	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4752933	0.81[AMR][1000 genomes]
rs57704144	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58561056	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5896	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61337452	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58922799	DDB2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46723400-46727200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:46723600-46726200	Weak transcription	Small Intestine	intestine
3	chr11:46723600-46728800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr11:46723600-46729600	Strong transcription	NHEK	skin
5	chr11:46723600-46730200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:46723600-46730200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:46723600-46732000	Weak transcription	Fetal Heart	heart
8	chr11:46723600-46739800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:46723800-46725200	Genic enhancers	Primary T cells from cord blood	blood
10	chr11:46723800-46729200	Strong transcription	Placenta	Placenta
11	chr11:46723800-46729800	Strong transcription	Fetal Lung	lung
12	chr11:46723800-46733000	Strong transcription	Fetal Stomach	stomach
13	chr11:46724000-46725200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:46724000-46725200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr11:46724000-46727800	Strong transcription	HUVEC	blood vessel
16	chr11:46724000-46728400	Strong transcription	HMEC	breast
17	chr11:46724000-46728600	Strong transcription	NHDF-Ad	bronchial
18	chr11:46724000-46728800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:46724000-46728800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:46724000-46728800	Strong transcription	Primary hematopoietic stem cells	blood
21	chr11:46724000-46729000	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr11:46724000-46729000	Strong transcription	HSMMtube	muscle
23	chr11:46724000-46729000	Strong transcription	NH-A	brain
24	chr11:46724000-46729200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:46724000-46729200	Strong transcription	Thymus	Thymus
26	chr11:46724000-46729200	Strong transcription	K562	blood
27	chr11:46724000-46729400	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:46724000-46729600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:46724000-46729600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:46724000-46730000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:46724000-46730200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:46724000-46730200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr11:46724000-46731000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:46724200-46725600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:46724200-46726000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr11:46724200-46726400	Strong transcription	HSMM	muscle
37	chr11:46724200-46727200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:46724200-46727600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:46724200-46727800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:46724200-46728800	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr11:46724200-46728800	Strong transcription	Left Ventricle	heart
42	chr11:46724200-46729200	Strong transcription	Placenta Amnion	Placenta Amnion
43	chr11:46724200-46729600	Strong transcription	NHLF	lung
44	chr11:46724200-46730000	Strong transcription	Adipose Nuclei	Adipose
45	chr11:46724400-46726600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:46724400-46727800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:46724400-46728400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr11:46724400-46728400	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr11:46724400-46729000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:46724400-46729200	Strong transcription	Fetal Intestine Large	intestine

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