Variant report

Variant	rs12276166
Chromosome Location	chr11:18398004-18398005
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	chr11:18393586..18398285-chr11:18414518..18419763,6	K562	blood:
2	chr11:18396368..18398704-chr11:18415798..18418891,3	K562	blood:

Variant related genes	Relation type
ENSG00000134333	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10832925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10832928	0.93[EUR][1000 genomes]
rs11024637	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11024642	0.93[EUR][1000 genomes]
rs11024644	0.93[EUR][1000 genomes]
rs12269752	0.93[EUR][1000 genomes]
rs12273776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274651	0.93[EUR][1000 genomes]
rs12275692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12284013	0.93[EUR][1000 genomes]
rs12284667	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12287183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12804008	0.93[EUR][1000 genomes]
rs7932887	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv933836	chr11:18300254-18440933	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription 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 miRNA target site	58 gene(s)	inside rSNPs	diseases
6	nsv523373	chr11:18382911-18401531	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	esv1811183	chr11:18389643-18432437	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18345000-18405000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:18387600-18398600	Weak transcription	Ovary	ovary
3	chr11:18387600-18404200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:18387600-18404400	Weak transcription	Esophagus	oesophagus
5	chr11:18387600-18404800	Weak transcription	Pancreas	Pancrea
6	chr11:18387800-18404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:18388000-18405000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:18388400-18402600	Weak transcription	Hela-S3	cervix
9	chr11:18388800-18404400	Weak transcription	Brain Anterior Caudate	brain
10	chr11:18389200-18404600	Weak transcription	Thymus	Thymus
11	chr11:18390000-18404400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:18390000-18404400	Weak transcription	Fetal Brain Female	brain
13	chr11:18390200-18404200	Weak transcription	Fetal Thymus	thymus
14	chr11:18390400-18399800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:18390400-18400000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr11:18390400-18404000	Weak transcription	NHDF-Ad	bronchial
17	chr11:18390400-18404200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:18390400-18404200	Weak transcription	HMEC	breast
19	chr11:18390400-18404600	Weak transcription	Primary B cells from cord blood	blood
20	chr11:18390400-18404800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:18390600-18404200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:18390600-18404200	Weak transcription	Adipose Nuclei	Adipose
23	chr11:18390600-18404200	Weak transcription	Osteobl	bone
24	chr11:18390800-18404200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:18391200-18404200	Weak transcription	HSMM	muscle
26	chr11:18391400-18400000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:18391600-18404200	Weak transcription	A549	lung
28	chr11:18391800-18399200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:18393000-18404200	Weak transcription	HSMMtube	muscle
30	chr11:18393000-18404400	Weak transcription	Primary T cells from cord blood	blood
31	chr11:18393600-18404200	Weak transcription	HepG2	liver

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