Variant report

Variant	rs11619052
Chromosome Location	chr13:49785877-49785878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11616334	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11619052	MAZ	trans	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
2	chr13:49737800-49788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:49739600-49786400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:49740200-49786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:49740600-49786600	Strong transcription	Placenta	Placenta
6	chr13:49748800-49790600	Weak transcription	K562	blood
7	chr13:49753200-49787600	Weak transcription	Psoas Muscle	Psoas
8	chr13:49756600-49786400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:49762800-49789200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:49763000-49788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr13:49763400-49789200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr13:49765600-49793800	Weak transcription	A549	lung
13	chr13:49768600-49786600	Strong transcription	HSMM	muscle
14	chr13:49771000-49786600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:49772800-49788600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:49772800-49789000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr13:49772800-49789000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:49773000-49789600	Weak transcription	NHEK	skin
19	chr13:49773400-49788000	Weak transcription	NHLF	lung
20	chr13:49773400-49788800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:49773400-49789200	Weak transcription	Brain Angular Gyrus	brain
22	chr13:49773600-49788800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr13:49773800-49788800	Weak transcription	Gastric	stomach
24	chr13:49773800-49788800	Weak transcription	Spleen	Spleen
25	chr13:49774000-49789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr13:49776400-49786800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr13:49777200-49789000	Weak transcription	Small Intestine	intestine
28	chr13:49777400-49788800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr13:49778000-49793800	Weak transcription	Right Ventricle	heart
30	chr13:49778200-49786400	Weak transcription	Aorta	Aorta
31	chr13:49778200-49787600	Weak transcription	Brain Substantia Nigra	brain
32	chr13:49778200-49788800	Weak transcription	Pancreas	Pancrea
33	chr13:49778200-49789200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr13:49778200-49789200	Weak transcription	Esophagus	oesophagus
35	chr13:49778600-49788800	Weak transcription	Fetal Heart	heart
36	chr13:49779400-49787200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr13:49779400-49788800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr13:49781200-49786400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr13:49781400-49787400	Weak transcription	Brain Hippocampus Middle	brain
40	chr13:49781400-49788800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr13:49781400-49789200	Weak transcription	Primary T cells from cord blood	blood
42	chr13:49781600-49787800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr13:49781600-49788800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr13:49781600-49790000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:49781600-49790000	Weak transcription	Brain Germinal Matrix	brain
46	chr13:49781800-49788600	Weak transcription	Fetal Kidney	kidney
47	chr13:49781800-49789000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr13:49781800-49789000	Weak transcription	GM12878-XiMat	blood
49	chr13:49782000-49787800	Weak transcription	Fetal Brain Female	brain
50	chr13:49782000-49788800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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