Variant report

Variant	rs72923987
Chromosome Location	chr11:57195720-57195721
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:57194159-57195792	IMR90	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

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	chr11:57194058..57195845-chr11:57267357..57269723,2	K562	blood:
5	chr11:57195352..57196928-chr11:57214427..57216091,2	K562	blood:
6	chr11:57094351..57096693-chr11:57193203..57197242,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254979	TF binding region
SLC43A3	TF binding region
ENSG00000149150	Chromatin interaction
ENSG00000186907	Chromatin interaction
ENSG00000238692	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000156599	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[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]
rs72923988	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57194400-57197000	Weak transcription	HepG2	liver
2	chr11:57194600-57195800	Enhancers	Lung	lung
3	chr11:57194600-57196000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:57194600-57198400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:57195000-57195800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:57195000-57195800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:57195000-57195800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:57195000-57195800	Enhancers	Adipose Nuclei	Adipose
9	chr11:57195000-57195800	Enhancers	Brain Substantia Nigra	brain
10	chr11:57195000-57195800	Enhancers	Esophagus	oesophagus
11	chr11:57195000-57195800	Enhancers	Fetal Brain Male	brain
12	chr11:57195000-57195800	Enhancers	Left Ventricle	heart
13	chr11:57195000-57195800	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr11:57195000-57196000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr11:57195000-57196000	Enhancers	HMEC	breast
16	chr11:57195000-57196200	Enhancers	NHLF	lung
17	chr11:57195000-57196400	Enhancers	Fetal Muscle Leg	muscle
18	chr11:57195000-57196600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:57195000-57198200	Enhancers	Liver	Liver
20	chr11:57195000-57198600	Enhancers	Right Atrium	heart
21	chr11:57195000-57199200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:57195000-57200000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:57195000-57201800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:57195000-57202400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:57195200-57195800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:57195200-57195800	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:57195200-57195800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr11:57195200-57195800	Flanking Active TSS	NHDF-Ad	bronchial
29	chr11:57195200-57196000	Enhancers	Fetal Lung	lung
30	chr11:57195200-57197200	Enhancers	K562	blood
31	chr11:57195200-57198200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:57195400-57195800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr11:57195400-57195800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:57195400-57195800	Enhancers	Aorta	Aorta
35	chr11:57195400-57195800	Enhancers	Brain Hippocampus Middle	brain
36	chr11:57195400-57195800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr11:57195400-57196000	Enhancers	HSMMtube	muscle
38	chr11:57195400-57196000	Enhancers	Osteobl	bone
39	chr11:57195400-57196200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:57195400-57198200	Weak transcription	Gastric	stomach
41	chr11:57195400-57198200	Weak transcription	A549	lung
42	chr11:57195400-57198600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:57195400-57198600	Weak transcription	GM12878-XiMat	blood
44	chr11:57195400-57199200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:57195400-57199800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:57195400-57199800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:57195400-57199800	Weak transcription	Fetal Thymus	thymus
48	chr11:57195600-57195800	Enhancers	Stomach Smooth Muscle	stomach
49	chr11:57195600-57195800	Enhancers	NHEK	skin
50	chr11:57195600-57196000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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