Variant report

Variant	rs7130191
Chromosome Location	chr11:73529296-73529297
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73512776..73515496-chr11:73527015..73529443,2	K562	blood:
2	chr11:73528552..73530776-chr11:73572316..73575159,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11235911	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11235918	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235928	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235950	0.87[AMR][1000 genomes]
rs11235951	0.85[EUR][1000 genomes]
rs11534587	0.86[EUR][1000 genomes]
rs12225286	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12277859	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1474417	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670536	0.94[ASN][1000 genomes]
rs1792163	0.94[ASN][1000 genomes]
rs3758932	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3758933	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56307666	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5792633	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57974546	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59187119	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60280069	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66465726	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7104794	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72976884	0.90[ASN][1000 genomes]
rs72982956	0.83[EUR][1000 genomes]
rs72982960	0.82[EUR][1000 genomes]
rs72989216	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72989220	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72989224	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72989263	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7924705	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7927396	0.86[EUR][1000 genomes]
rs7931143	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7937366	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9666440	0.83[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	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7130191	UCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
3	chr11:73499800-73529400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
5	chr11:73500400-73537000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:73500400-73542200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
8	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
9	chr11:73500600-73538800	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:73500600-73549200	Weak transcription	Osteobl	bone
11	chr11:73500600-73553800	Weak transcription	Fetal Lung	lung
12	chr11:73500800-73558800	Weak transcription	NHEK	skin
13	chr11:73503600-73532400	Weak transcription	Stomach Mucosa	stomach
14	chr11:73503600-73541200	Weak transcription	GM12878-XiMat	blood
15	chr11:73508200-73529400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
17	chr11:73508800-73533800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:73508800-73538200	Weak transcription	Placenta	Placenta
19	chr11:73508800-73538200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:73508800-73541400	Weak transcription	Esophagus	oesophagus
21	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
23	chr11:73508800-73575400	Weak transcription	Gastric	stomach
24	chr11:73509000-73530800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:73509000-73536800	Weak transcription	Adipose Nuclei	Adipose
26	chr11:73509000-73539400	Weak transcription	Ovary	ovary
27	chr11:73509000-73549400	Weak transcription	Brain Substantia Nigra	brain
28	chr11:73509000-73549600	Weak transcription	Brain Angular Gyrus	brain
29	chr11:73509000-73553200	Weak transcription	Lung	lung
30	chr11:73509200-73538400	Weak transcription	Brain Anterior Caudate	brain
31	chr11:73509600-73529600	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:73509600-73538200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:73509600-73541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:73511800-73529400	Weak transcription	Fetal Heart	heart
35	chr11:73511800-73529600	Weak transcription	Left Ventricle	heart
36	chr11:73516000-73553200	Weak transcription	HepG2	liver
37	chr11:73516200-73529800	Weak transcription	NH-A	brain
38	chr11:73516200-73532200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:73517000-73562800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:73517000-73565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:73517400-73538200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:73517600-73533400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr11:73517600-73549400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:73517800-73537400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:73518000-73536400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:73518200-73537600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr11:73518200-73541000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:73518400-73541000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
50	chr11:73518600-73538000	Weak transcription	Primary B cells from cord blood	blood

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