Variant report

Variant	rs12272365
Chromosome Location	chr11:57496185-57496186
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57494567..57497294-chr11:57512020..57513679,2	K562	blood:
2	chr11:57489018..57490635-chr11:57493896..57496421,2	K562	blood:
3	chr11:57495776..57498306-chr11:57507374..57510314,2	K562	blood:
4	chr11:57494675..57496703-chr11:57498004..57500040,2	K562	blood:

Variant related genes	Relation type
ENSG00000211450	Chromatin interaction
ENSG00000254732	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11229129	0.84[AFR][1000 genomes]
rs11229138	0.84[AFR][1000 genomes]
rs11229168	0.84[AFR][1000 genomes]
rs12269967	0.84[AFR][1000 genomes]
rs12277841	0.92[AFR][1000 genomes]
rs12278162	0.84[AFR][1000 genomes]
rs12287051	0.84[AFR][1000 genomes]
rs12289980	0.92[AFR][1000 genomes]
rs12292079	0.84[AFR][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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57481000-57496200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:57481000-57508400	Weak transcription	Aorta	Aorta
3	chr11:57481200-57508400	Weak transcription	Fetal Brain Male	brain
4	chr11:57481400-57496400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:57481400-57500200	Weak transcription	Esophagus	oesophagus
6	chr11:57481400-57503200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:57481400-57505000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:57481400-57506000	Weak transcription	Pancreas	Pancrea
9	chr11:57481600-57505000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:57481600-57505000	Weak transcription	Fetal Kidney	kidney
11	chr11:57481600-57505000	Weak transcription	NH-A	brain
12	chr11:57481600-57506200	Weak transcription	Colonic Mucosa	Colon
13	chr11:57481600-57508400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:57481800-57503000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:57481800-57503000	Weak transcription	HSMM	muscle
16	chr11:57481800-57505000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:57481800-57505000	Weak transcription	Fetal Lung	lung
18	chr11:57482000-57505000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:57482000-57505000	Weak transcription	NHLF	lung
20	chr11:57482000-57505200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:57482000-57505200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:57482000-57508200	Weak transcription	Brain Substantia Nigra	brain
23	chr11:57482200-57496400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:57482200-57498000	Weak transcription	HUVEC	blood vessel
25	chr11:57482200-57505000	Weak transcription	Brain Anterior Caudate	brain
26	chr11:57482200-57505000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:57482200-57505200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr11:57482200-57508200	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:57482400-57500400	Weak transcription	Hela-S3	cervix
30	chr11:57482400-57503000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:57482400-57504800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:57482400-57505000	Weak transcription	Brain Angular Gyrus	brain
33	chr11:57482400-57508000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr11:57482400-57508200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:57482400-57508200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:57482400-57508200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr11:57482600-57499800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:57482600-57503000	Weak transcription	Fetal Heart	heart
39	chr11:57482600-57508000	Weak transcription	Small Intestine	intestine
40	chr11:57482800-57499600	Weak transcription	Psoas Muscle	Psoas
41	chr11:57486000-57496200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:57486000-57502000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:57486000-57502800	Weak transcription	Right Ventricle	heart
44	chr11:57486000-57504800	Weak transcription	Primary B cells from cord blood	blood
45	chr11:57486000-57505000	Weak transcription	Adipose Nuclei	Adipose
46	chr11:57486000-57505200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:57486000-57505200	Weak transcription	Spleen	Spleen
48	chr11:57486000-57505800	Weak transcription	Gastric	stomach
49	chr11:57486000-57508400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:57486200-57498600	Weak transcription	Ovary	ovary

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