Variant report

Variant	rs2734827
Chromosome Location	chr11:73716277-73716278
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	GATA1	chr11:73716277-73716741	PBDE	blood:	n/a	chr11:73716497-73716504 chr11:73716497-73716504 chr11:73716497-73716504 chr11:73716497-73716506
2	CTCF	chr11:73716220-73716370	HepG2	liver:	n/a	n/a
3	MAX	chr11:73715995-73716745	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73715121..73717630-chr11:73768007..73770046,2	MCF-7	breast:
2	chr11:73714167..73717044-chr11:73777878..73780816,2	MCF-7	breast:
3	chr11:73709291..73711416-chr11:73716050..73718311,2	K562	blood:

Variant related genes	Relation type
UCP3	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11236006	0.93[JPT][hapmap]
rs11236008	0.93[JPT][hapmap]
rs11236028	0.93[JPT][hapmap]
rs11825568	0.93[JPT][hapmap]
rs15763	1.00[JPT][hapmap]
rs1626521	1.00[JPT][hapmap]
rs1685354	1.00[JPT][hapmap]
rs2632723	1.00[JPT][hapmap]
rs2848557	0.86[JPT][hapmap]
rs4944880	0.93[JPT][hapmap]
rs555964	0.93[JPT][hapmap]
rs668514	1.00[JPT][hapmap]
rs699142	0.80[JPT][hapmap]
rs7925988	0.93[JPT][hapmap]
rs826054	0.84[CHD][hapmap];0.93[JPT][hapmap]
rs826057	0.80[JPT][hapmap]
rs826058	0.80[JPT][hapmap]
rs866650	0.93[JPT][hapmap]
rs869616	0.93[JPT][hapmap]

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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2734827	PPME1	cis	cerebellum	SCAN
rs2734827	UCP2	Cis_1M	lymphoblastoid	RTeQTL
rs2734827	MRPL48	cis	cerebellum	SCAN
rs2734827	FGF4	cis	cerebellum	SCAN
rs2734827	UCP2	cis	multi-tissue	Pritchard

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73703000-73719400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:73707400-73719800	Weak transcription	Dnd41	blood
3	chr11:73708000-73717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:73708800-73729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:73709000-73724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:73709400-73716600	Weak transcription	Small Intestine	intestine
7	chr11:73710200-73728400	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
9	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
10	chr11:73710800-73717000	Enhancers	K562	blood
11	chr11:73710800-73717800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:73710800-73722400	Weak transcription	NHDF-Ad	bronchial
13	chr11:73711000-73718400	Strong transcription	Fetal Brain Female	brain
14	chr11:73711000-73721200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:73711000-73729200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:73711200-73718200	Strong transcription	Brain Germinal Matrix	brain
17	chr11:73711400-73717000	Strong transcription	Stomach Smooth Muscle	stomach
18	chr11:73711400-73717400	Strong transcription	Right Ventricle	heart
19	chr11:73711600-73716600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:73711800-73716600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:73711800-73717200	Strong transcription	Placenta	Placenta
22	chr11:73711800-73718200	Strong transcription	Lung	lung
23	chr11:73711800-73718200	Strong transcription	Spleen	Spleen
24	chr11:73711800-73720200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:73711800-73729200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:73712000-73716600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:73712000-73717200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:73712000-73721200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:73712200-73721200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:73712200-73726800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:73712200-73743600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:73712200-73743800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:73712400-73721800	Weak transcription	Colonic Mucosa	Colon
34	chr11:73712600-73722400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:73712800-73743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:73713000-73716600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr11:73713000-73716800	Strong transcription	Aorta	Aorta
38	chr11:73713600-73725000	Weak transcription	A549	lung
39	chr11:73713800-73716600	Weak transcription	Psoas Muscle	Psoas
40	chr11:73714000-73716400	Weak transcription	HepG2	liver
41	chr11:73714000-73726000	Weak transcription	Esophagus	oesophagus
42	chr11:73714200-73729800	Weak transcription	Hela-S3	cervix
43	chr11:73714600-73717600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:73714600-73727200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:73714800-73716600	Genic enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:73714800-73716800	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr11:73714800-73717400	Enhancers	Primary hematopoietic stem cells	blood
48	chr11:73714800-73717800	Weak transcription	Pancreas	Pancrea
49	chr11:73714800-73718400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:73714800-73719200	Weak transcription	Fetal Heart	heart

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