Variant report

Variant	rs12417424
Chromosome Location	chr11:73751481-73751482
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73750992..73751492-chr11:108337720..108338436,2	MCF-7	breast:
2	chr11:73751293..73752862-chr11:73761257..73763074,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166323	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12419308	0.96[LWK][hapmap];1.00[MKK][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes]
rs17132555	0.93[LWK][hapmap]
rs17132707	1.00[CHB][hapmap]
rs17310472	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4944877	0.98[ASN][1000 genomes]
rs7110607	0.96[LWK][hapmap]
rs72984825	0.88[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12417424	UCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73722200-73767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:73728000-73755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:73730800-73800800	Weak transcription	Fetal Heart	heart
4	chr11:73732000-73752400	Weak transcription	Small Intestine	intestine
5	chr11:73734600-73754400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:73737000-73753400	Strong transcription	Fetal Muscle Trunk	muscle
7	chr11:73737000-73760400	Weak transcription	Psoas Muscle	Psoas
8	chr11:73738600-73753200	Strong transcription	Fetal Intestine Large	intestine
9	chr11:73738600-73754600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:73738600-73754600	Strong transcription	Dnd41	blood
11	chr11:73738600-73754800	Strong transcription	Stomach Smooth Muscle	stomach
12	chr11:73738800-73753200	Strong transcription	Brain Germinal Matrix	brain
13	chr11:73738800-73753400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:73739000-73753600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:73739000-73753600	Strong transcription	HSMMtube	muscle
16	chr11:73739200-73753600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:73739600-73753200	Strong transcription	Thymus	Thymus
18	chr11:73739600-73753800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:73740000-73753200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:73740000-73753400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr11:73740000-73771000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:73740200-73753400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr11:73740600-73753400	Strong transcription	Ovary	ovary
24	chr11:73741400-73753200	Strong transcription	Primary hematopoietic stem cells	blood
25	chr11:73741400-73753200	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr11:73742600-73753600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr11:73742600-73758000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:73742800-73753200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:73742800-73754600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr11:73743000-73753200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:73743000-73755200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:73743200-73753000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:73743400-73754400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:73743600-73753200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:73744600-73753200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr11:73745000-73758200	Weak transcription	NHDF-Ad	bronchial
37	chr11:73745200-73751800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:73745200-73752200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr11:73745400-73752400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:73745400-73752400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:73745400-73752400	Weak transcription	Fetal Kidney	kidney
42	chr11:73745400-73752400	Weak transcription	Gastric	stomach
43	chr11:73745400-73758200	Weak transcription	Esophagus	oesophagus
44	chr11:73745400-73764800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:73745600-73752400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:73746000-73752400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr11:73746000-73768000	Weak transcription	NHEK	skin
48	chr11:73746200-73753200	Strong transcription	Aorta	Aorta
49	chr11:73746400-73766000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:73746800-73753400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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