Variant report

Variant	rs72923988
Chromosome Location	chr11:57195866-57195867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57194115..57196219-chr11:57423627..57426056,2	K562	blood:
2	chr11:57194854..57196805-chr11:57435548..57437119,2	K562	blood:
3	chr11:57194318..57196008-chr11:57227438..57230083,2	K562	blood:
4	chr11:57195352..57196928-chr11:57214427..57216091,2	K562	blood:
5	chr11:57094351..57096693-chr11:57193203..57197242,3	K562	blood:

Variant related genes	Relation type
ENSG00000186907	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000238692	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2584857	1.00[EUR][1000 genomes]
rs3851116	0.89[EUR][1000 genomes]
rs62640922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6591424	0.89[EUR][1000 genomes]
rs6591426	0.86[EUR][1000 genomes]
rs72923979	0.89[EUR][1000 genomes]
rs72923987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72923992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57194400-57197000	Weak transcription	HepG2	liver
2	chr11:57194600-57196000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:57194600-57198400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:57195000-57196000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr11:57195000-57196000	Enhancers	HMEC	breast
6	chr11:57195000-57196200	Enhancers	NHLF	lung
7	chr11:57195000-57196400	Enhancers	Fetal Muscle Leg	muscle
8	chr11:57195000-57196600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:57195000-57198200	Enhancers	Liver	Liver
10	chr11:57195000-57198600	Enhancers	Right Atrium	heart
11	chr11:57195000-57199200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:57195000-57200000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:57195000-57201800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:57195000-57202400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr11:57195200-57196000	Enhancers	Fetal Lung	lung
16	chr11:57195200-57197200	Enhancers	K562	blood
17	chr11:57195200-57198200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:57195400-57196000	Enhancers	HSMMtube	muscle
19	chr11:57195400-57196000	Enhancers	Osteobl	bone
20	chr11:57195400-57196200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:57195400-57198200	Weak transcription	Gastric	stomach
22	chr11:57195400-57198200	Weak transcription	A549	lung
23	chr11:57195400-57198600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:57195400-57198600	Weak transcription	GM12878-XiMat	blood
25	chr11:57195400-57199200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:57195400-57199800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:57195400-57199800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:57195400-57199800	Weak transcription	Fetal Thymus	thymus
29	chr11:57195600-57196000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:57195600-57196000	Enhancers	Colon Smooth Muscle	Colon
31	chr11:57195600-57196000	Enhancers	Ovary	ovary
32	chr11:57195600-57196000	Enhancers	HSMM	muscle
33	chr11:57195600-57196200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:57195600-57196600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:57195600-57196600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:57195600-57196600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr11:57195600-57197000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:57195600-57197000	Weak transcription	Right Ventricle	heart
39	chr11:57195600-57197200	Weak transcription	Stomach Mucosa	stomach
40	chr11:57195600-57197600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:57195600-57198200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:57195600-57198200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:57195600-57198200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr11:57195600-57198400	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr11:57195600-57198400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr11:57195600-57199400	Weak transcription	Brain Anterior Caudate	brain
47	chr11:57195600-57199400	Weak transcription	Spleen	Spleen
48	chr11:57195600-57199600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:57195600-57202400	Weak transcription	Pancreas	Pancrea
50	chr11:57195800-57196600	Enhancers	NHDF-Ad	bronchial

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