Variant report

Variant	rs3758933
Chromosome Location	chr11:73590734-73590735
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73587661..73589707-chr11:73590191..73593433,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPL48-2	chr11:73589824-73591748	NONHSAT022860

Variant related genes	Relation type
ENSG00000181924	Chromatin interaction
ENSG00000175575	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11235911	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235918	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11235928	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11235950	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11235951	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11534587	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12277859	0.82[AMR][1000 genomes]
rs1474417	0.82[EUR][1000 genomes]
rs1670536	0.88[ASN][1000 genomes]
rs1792163	0.88[ASN][1000 genomes]
rs3758932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56307666	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5792633	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59187119	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60280069	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66465726	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7104794	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7130191	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72982946	0.90[ASN][1000 genomes]
rs72982956	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72982960	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72989216	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72989220	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72989224	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72989263	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7924705	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7927396	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7931143	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7937366	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9666440	0.88[EUR][1000 genomes];0.85[ASN][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	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
4	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
5	nsv1035977	chr11:73581224-73617653	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3758933	UCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73588600-73591000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:73588600-73591000	Weak transcription	Esophagus	oesophagus
3	chr11:73588600-73594800	Weak transcription	Ovary	ovary
4	chr11:73588600-73599400	Weak transcription	Left Ventricle	heart
5	chr11:73588600-73610200	Weak transcription	Gastric	stomach
6	chr11:73588600-73610200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:73588600-73611200	Weak transcription	Aorta	Aorta
8	chr11:73588800-73590800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:73588800-73590800	Weak transcription	Fetal Stomach	stomach
10	chr11:73588800-73590800	Weak transcription	Pancreas	Pancrea
11	chr11:73588800-73591000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:73588800-73594400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:73588800-73594400	Weak transcription	Fetal Brain Female	brain
14	chr11:73588800-73594600	Weak transcription	Placenta	Placenta
15	chr11:73588800-73594800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:73588800-73594800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:73588800-73595000	Weak transcription	Thymus	Thymus
18	chr11:73588800-73595200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:73588800-73597000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:73588800-73597800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr11:73588800-73598000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:73588800-73598200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:73588800-73598400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr11:73588800-73598400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:73588800-73598400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr11:73588800-73599400	Weak transcription	Fetal Heart	heart
27	chr11:73588800-73599400	Weak transcription	Psoas Muscle	Psoas
28	chr11:73588800-73599400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:73588800-73599400	Weak transcription	HSMMtube	muscle
30	chr11:73588800-73599800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:73588800-73599800	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:73588800-73599800	Weak transcription	NHLF	lung
33	chr11:73588800-73600000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:73588800-73600000	Weak transcription	HMEC	breast
35	chr11:73588800-73600000	Weak transcription	NHDF-Ad	bronchial
36	chr11:73588800-73600200	Weak transcription	Brain Angular Gyrus	brain
37	chr11:73588800-73600200	Weak transcription	NH-A	brain
38	chr11:73588800-73600600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr11:73588800-73600800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:73588800-73604200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr11:73588800-73604800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:73588800-73606200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:73588800-73607000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:73588800-73610200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:73588800-73610600	Weak transcription	Spleen	Spleen
46	chr11:73588800-73610800	Weak transcription	Lung	lung
47	chr11:73588800-73610800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:73588800-73611200	Weak transcription	Right Ventricle	heart
49	chr11:73588800-73622000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:73588800-73623000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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