Variant report

Variant	rs56307666
Chromosome Location	chr11:73553812-73553813
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11235911	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11235918	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235928	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235950	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11235951	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11534587	0.87[EUR][1000 genomes]
rs12277859	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1474417	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1670536	1.00[ASN][1000 genomes]
rs1792163	1.00[ASN][1000 genomes]
rs3758932	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3758933	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5792633	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57974546	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59187119	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60280069	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66465726	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7104794	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130191	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72976884	0.84[ASN][1000 genomes]
rs72982956	0.84[EUR][1000 genomes]
rs72982960	0.83[EUR][1000 genomes]
rs72989216	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72989220	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72989224	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72989263	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7924705	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7927396	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7931143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937366	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9666440	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	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
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56307666	UCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
2	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
3	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
4	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
5	chr11:73500800-73558800	Weak transcription	NHEK	skin
6	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
7	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
9	chr11:73508800-73575400	Weak transcription	Gastric	stomach
10	chr11:73517000-73562800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:73517000-73565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
13	chr11:73531800-73555600	Weak transcription	Fetal Kidney	kidney
14	chr11:73533000-73580400	Weak transcription	Stomach Mucosa	stomach
15	chr11:73537200-73559800	Weak transcription	Small Intestine	intestine
16	chr11:73537400-73582600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:73539000-73577200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:73539200-73574200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:73539200-73583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:73540000-73571200	Weak transcription	NHDF-Ad	bronchial
21	chr11:73540800-73577400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:73541200-73554200	Weak transcription	Placenta	Placenta
23	chr11:73541400-73554000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:73541600-73567000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:73541800-73574000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:73541800-73583600	Weak transcription	Esophagus	oesophagus
27	chr11:73542400-73577400	Weak transcription	HUVEC	blood vessel
28	chr11:73542600-73554000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:73542600-73555000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:73542600-73577200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:73543600-73554000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr11:73543800-73555200	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:73543800-73560400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:73544000-73555400	Weak transcription	Brain Germinal Matrix	brain
35	chr11:73544400-73554000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:73548800-73554000	Weak transcription	Adipose Nuclei	Adipose
37	chr11:73548800-73554000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:73548800-73558200	Weak transcription	K562	blood
39	chr11:73548800-73582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:73549400-73567000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:73549800-73554000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:73549800-73562400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:73549800-73562600	Weak transcription	Brain Anterior Caudate	brain
44	chr11:73549800-73567200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:73549800-73583600	Weak transcription	GM12878-XiMat	blood
46	chr11:73550000-73554000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:73550000-73554600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:73550000-73554600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr11:73550000-73555400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:73550000-73555400	Weak transcription	Brain Cingulate Gyrus	brain

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