Variant report

Variant	rs72923992
Chromosome Location	chr11:57196949-57196950
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr11:57196910-57197098	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:57196020..57198487-chr11:57226269..57229140,2	K562	blood:
2	chr11:57194860..57196606-chr11:57196687..57198293,2	MCF-7	breast:
3	chr11:57094351..57096693-chr11:57193203..57197242,3	K562	blood:

Variant related genes	Relation type
SLC43A3	TF binding region
ENSG00000238692	Chromatin interaction
ENSG00000186907	Chromatin interaction
ENSG00000134802	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]
rs72923987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72923988	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57194400-57197000	Weak transcription	HepG2	liver
2	chr11:57194600-57198400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:57195000-57198200	Enhancers	Liver	Liver
4	chr11:57195000-57198600	Enhancers	Right Atrium	heart
5	chr11:57195000-57199200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:57195000-57200000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:57195000-57201800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:57195000-57202400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:57195200-57197200	Enhancers	K562	blood
10	chr11:57195200-57198200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:57195400-57198200	Weak transcription	Gastric	stomach
12	chr11:57195400-57198200	Weak transcription	A549	lung
13	chr11:57195400-57198600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:57195400-57198600	Weak transcription	GM12878-XiMat	blood
15	chr11:57195400-57199200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:57195400-57199800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:57195400-57199800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:57195400-57199800	Weak transcription	Fetal Thymus	thymus
19	chr11:57195600-57197000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:57195600-57197000	Weak transcription	Right Ventricle	heart
21	chr11:57195600-57197200	Weak transcription	Stomach Mucosa	stomach
22	chr11:57195600-57197600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:57195600-57198200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:57195600-57198200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:57195600-57198200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr11:57195600-57198400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr11:57195600-57198400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr11:57195600-57199400	Weak transcription	Brain Anterior Caudate	brain
29	chr11:57195600-57199400	Weak transcription	Spleen	Spleen
30	chr11:57195600-57199600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:57195600-57202400	Weak transcription	Pancreas	Pancrea
32	chr11:57195800-57197000	Weak transcription	Lung	lung
33	chr11:57195800-57198800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:57195800-57199000	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:57195800-57199400	Weak transcription	Adipose Nuclei	Adipose
36	chr11:57195800-57199600	Weak transcription	Brain Substantia Nigra	brain
37	chr11:57195800-57200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:57195800-57200200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:57195800-57202000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr11:57195800-57202000	Weak transcription	NHEK	skin
41	chr11:57195800-57202400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:57195800-57202400	Weak transcription	Esophagus	oesophagus
43	chr11:57196000-57197000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:57196000-57199400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:57196000-57199400	Weak transcription	Osteobl	bone
46	chr11:57196000-57199600	Weak transcription	HMEC	breast
47	chr11:57196000-57200000	Weak transcription	HSMM	muscle
48	chr11:57196000-57200200	Weak transcription	HSMMtube	muscle
49	chr11:57196000-57200400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:57196000-57201800	Weak transcription	Colon Smooth Muscle	Colon

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