Variant report

Variant	rs72862323
Chromosome Location	chr11:10618750-10618751
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:10617278..10621445-chr11:10622664..10626512,4	K562	blood:
2	chr11:10613275..10616271-chr11:10616850..10619846,3	K562	blood:
3	chr11:10618512..10620959-chr11:10622664..10624993,2	K562	blood:
4	chr11:10618598..10620933-chr11:10630778..10632492,2	K562	blood:
5	chr11:10613644..10615789-chr11:10618346..10620167,2	K562	blood:

Variant related genes	Relation type
ENSG00000177112	Chromatin interaction
ENSG00000072952	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10500728	0.90[EUR][1000 genomes]
rs11821864	1.00[EUR][1000 genomes]
rs12099382	0.90[EUR][1000 genomes]
rs16907959	0.90[EUR][1000 genomes]
rs2403331	0.90[EUR][1000 genomes]
rs55637826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55657367	0.90[EUR][1000 genomes]
rs55676441	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55897150	0.90[EUR][1000 genomes]
rs56070854	1.00[EUR][1000 genomes]
rs56399907	1.00[AMR][1000 genomes]
rs72859111	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859115	0.90[EUR][1000 genomes]
rs72859152	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859180	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859181	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859188	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72859201	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72861010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861016	1.00[EUR][1000 genomes]
rs72861018	1.00[EUR][1000 genomes]
rs72861030	1.00[EUR][1000 genomes]
rs72861037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861079	1.00[EUR][1000 genomes]
rs72861081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861083	1.00[EUR][1000 genomes]
rs72861085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72861101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862310	1.00[EUR][1000 genomes]
rs72862320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862327	1.00[EUR][1000 genomes]
rs72862332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862333	1.00[EUR][1000 genomes]
rs72862335	1.00[EUR][1000 genomes]
rs72862385	0.90[EUR][1000 genomes]
rs72862390	0.81[EUR][1000 genomes]
rs9292	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv832063	chr11:10618485-10785281	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10586400-10620400	Weak transcription	Brain Anterior Caudate	brain
2	chr11:10592400-10622600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:10595000-10629600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:10595000-10632800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:10597200-10625800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:10603600-10621800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:10605200-10620400	Weak transcription	Fetal Thymus	thymus
8	chr11:10605800-10622200	Weak transcription	Spleen	Spleen
9	chr11:10606000-10620400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:10607400-10626000	Weak transcription	Fetal Lung	lung
11	chr11:10608800-10625400	Weak transcription	Adipose Nuclei	Adipose
12	chr11:10609600-10619600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr11:10609600-10620800	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:10610800-10618800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:10611600-10625000	Weak transcription	Brain Substantia Nigra	brain
16	chr11:10613400-10619400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:10613400-10620600	Weak transcription	Lung	lung
18	chr11:10613600-10619400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr11:10613800-10620600	Weak transcription	Psoas Muscle	Psoas
20	chr11:10614000-10621200	Weak transcription	HSMMtube	muscle
21	chr11:10614400-10619400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:10614800-10619200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:10614800-10620000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:10615000-10621000	Weak transcription	Fetal Kidney	kidney
25	chr11:10615000-10621200	Weak transcription	NHLF	lung
26	chr11:10615000-10625600	Weak transcription	Osteobl	bone
27	chr11:10615200-10620600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:10615200-10625600	Weak transcription	NHDF-Ad	bronchial
29	chr11:10615800-10619200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:10615800-10625600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:10616000-10619000	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:10616000-10619400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr11:10616000-10620600	Weak transcription	Ovary	ovary
34	chr11:10616000-10620800	Weak transcription	Fetal Intestine Large	intestine
35	chr11:10616000-10621000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:10616000-10621400	Weak transcription	Fetal Intestine Small	intestine
37	chr11:10616000-10622200	Weak transcription	Esophagus	oesophagus
38	chr11:10616200-10618800	Weak transcription	Fetal Stomach	stomach
39	chr11:10616200-10619400	Weak transcription	K562	blood
40	chr11:10616200-10621400	Weak transcription	Hela-S3	cervix
41	chr11:10616400-10620200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:10616800-10625400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:10616800-10625400	Weak transcription	HMEC	breast
44	chr11:10617000-10621000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:10617200-10619000	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:10617400-10623400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:10617600-10619400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:10617600-10626800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr11:10617600-10627600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:10617800-10618800	Enhancers	Monocytes-CD14+_RO01746	blood

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