Variant report

Variant	rs1980345
Chromosome Location	chr11:73391422-73391423
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	chr11:73385994..73387956-chr11:73388947..73391693,2	K562	blood:
2	chr11:72478740..72480809-chr11:73389809..73392340,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10898932	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12576616	0.89[ASN][1000 genomes]
rs4261305	0.84[ASN][1000 genomes]
rs7123598	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7124775	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126049	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71479542	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7940395	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv390	chr11:73388188-73432899	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1980345	UCP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73372400-73395400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:73372600-73394800	Weak transcription	Brain Germinal Matrix	brain
3	chr11:73374200-73391800	Weak transcription	Hela-S3	cervix
4	chr11:73374400-73427200	Weak transcription	A549	lung
5	chr11:73375200-73404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:73375800-73400000	Weak transcription	Lung	lung
7	chr11:73375800-73416200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:73376200-73395600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:73376200-73398400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:73376600-73399200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:73376600-73400000	Weak transcription	Spleen	Spleen
12	chr11:73377000-73400000	Weak transcription	Psoas Muscle	Psoas
13	chr11:73381800-73400000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:73382200-73399000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:73382200-73436000	Weak transcription	Small Intestine	intestine
16	chr11:73382200-73441200	Weak transcription	Stomach Mucosa	stomach
17	chr11:73382400-73421600	Weak transcription	Gastric	stomach
18	chr11:73382800-73400400	Weak transcription	Pancreas	Pancrea
19	chr11:73383200-73399000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:73383400-73427200	Weak transcription	Fetal Heart	heart
21	chr11:73383800-73395200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:73384000-73427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:73384800-73401800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:73385000-73449800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr11:73385200-73392000	Strong transcription	Placenta	Placenta
26	chr11:73385200-73393600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:73385600-73395400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr11:73385600-73398800	Weak transcription	Aorta	Aorta
29	chr11:73385800-73411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:73386200-73392400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:73386400-73395200	Weak transcription	Thymus	Thymus
32	chr11:73386400-73397800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:73386600-73399400	Weak transcription	Esophagus	oesophagus
34	chr11:73386800-73399400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr11:73387000-73393000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:73387000-73395200	Weak transcription	Ovary	ovary
37	chr11:73387400-73410800	Weak transcription	Colonic Mucosa	Colon
38	chr11:73387600-73393000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:73387600-73393400	Strong transcription	Liver	Liver
40	chr11:73387800-73392600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:73387800-73393400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:73387800-73393400	Strong transcription	Fetal Intestine Large	intestine
43	chr11:73388000-73396000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:73388200-73391600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:73388200-73392000	Strong transcription	Primary B cells from peripheral blood	blood
46	chr11:73388200-73392800	Strong transcription	HSMM	muscle
47	chr11:73388200-73393200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr11:73388200-73393400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:73388200-73393400	Strong transcription	Adipose Nuclei	Adipose
50	chr11:73388200-73393400	Strong transcription	Duodenum Mucosa	Duodenum

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