Variant report

Variant	rs12366072
Chromosome Location	chr11:77345071-77345072
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10466710	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10793257	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12290511	0.83[ASN][1000 genomes]
rs1945747	0.83[ASN][1000 genomes]
rs28451110	0.83[ASN][1000 genomes]
rs4366508	0.84[ASN][1000 genomes]
rs4944164	0.82[ASN][1000 genomes]
rs4945178	0.83[ASN][1000 genomes]
rs4945185	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6592728	0.83[ASN][1000 genomes]
rs6592730	0.84[ASN][1000 genomes]
rs6592737	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7114468	0.83[ASN][1000 genomes]
rs7117344	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7934977	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7943055	0.83[ASN][1000 genomes]
rs7943742	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv468641	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv555452	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv1035494	chr11:77309696-77431228	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77301400-77346000	Weak transcription	Small Intestine	intestine
2	chr11:77301800-77345800	Weak transcription	Spleen	Spleen
3	chr11:77313000-77345200	Weak transcription	Gastric	stomach
4	chr11:77313000-77347400	Weak transcription	Colonic Mucosa	Colon
5	chr11:77314000-77345800	Weak transcription	Pancreas	Pancrea
6	chr11:77314000-77347400	Weak transcription	Fetal Heart	heart
7	chr11:77316400-77346800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:77316600-77347000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:77321000-77347800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:77323400-77348000	Weak transcription	Aorta	Aorta
11	chr11:77323600-77347200	Weak transcription	Fetal Brain Male	brain
12	chr11:77326600-77347200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:77328200-77347200	Weak transcription	Psoas Muscle	Psoas
14	chr11:77330200-77347400	Weak transcription	Brain Substantia Nigra	brain
15	chr11:77330400-77347400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:77330600-77347400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:77333200-77346600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:77333200-77348000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:77333600-77347600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:77333800-77347800	Weak transcription	Esophagus	oesophagus
21	chr11:77335000-77347000	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:77335200-77347200	Weak transcription	Brain Germinal Matrix	brain
23	chr11:77335400-77347600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:77335800-77346800	Weak transcription	Fetal Brain Female	brain
25	chr11:77336600-77346800	Weak transcription	NHDF-Ad	bronchial
26	chr11:77336600-77347400	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:77336800-77345200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:77336800-77345800	Weak transcription	Left Ventricle	heart
29	chr11:77336800-77346800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:77336800-77346800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:77336800-77346800	Weak transcription	Brain Angular Gyrus	brain
32	chr11:77336800-77346800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr11:77336800-77347400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr11:77336800-77347400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:77336800-77347400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:77336800-77347400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:77336800-77347400	Weak transcription	NH-A	brain
38	chr11:77336800-77347400	Weak transcription	NHLF	lung
39	chr11:77336800-77347600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:77337000-77345200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr11:77337200-77345200	Weak transcription	Adipose Nuclei	Adipose
42	chr11:77337200-77347000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:77337200-77347200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr11:77337200-77347200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr11:77337200-77347400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr11:77337200-77347400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:77337200-77347400	Weak transcription	Brain Anterior Caudate	brain
48	chr11:77337200-77347800	Weak transcription	Lung	lung
49	chr11:77337400-77345800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:77337400-77347200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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