Variant report

Variant	rs5753392
Chromosome Location	chr22:31319932-31319933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31218130..31220095-chr22:31317473..31320044,2	MCF-7	breast:
2	chr22:31319777..31322266-chr22:31479907..31481786,2	MCF-7	breast:
3	chr22:31318826..31320833-chr22:31327082..31329835,2	K562	blood:
4	chr22:31318522..31320087-chr22:31320410..31322859,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1003480	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1005252	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11089484	0.81[AFR][1000 genomes]
rs2074578	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2240182	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285918	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4820916	0.83[AFR][1000 genomes]
rs5749186	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5749194	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749195	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753388	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753389	0.81[AFR][1000 genomes]
rs5753398	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7291077	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31290800-31320600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:31295400-31321000	Weak transcription	HSMMtube	muscle
4	chr22:31300200-31320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:31304200-31320800	Weak transcription	Gastric	stomach
6	chr22:31304600-31320400	Weak transcription	Lung	lung
7	chr22:31305600-31320200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:31306800-31320200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:31306800-31320200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr22:31312000-31320000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr22:31312200-31320000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr22:31316200-31320600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:31316800-31323000	Weak transcription	Hela-S3	cervix
14	chr22:31317600-31320800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:31317600-31323000	Weak transcription	A549	lung
16	chr22:31317600-31324000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr22:31317600-31364000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr22:31317800-31323200	Weak transcription	HMEC	breast
19	chr22:31318200-31320800	Weak transcription	NH-A	brain
20	chr22:31318200-31320800	Weak transcription	NHEK	skin
21	chr22:31318200-31321600	Weak transcription	Esophagus	oesophagus
22	chr22:31318400-31320000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:31318400-31320400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:31318400-31320400	Weak transcription	Aorta	Aorta
25	chr22:31318400-31320800	Weak transcription	HSMM	muscle
26	chr22:31318400-31321200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:31318400-31321200	Weak transcription	Fetal Lung	lung
28	chr22:31318400-31321200	Weak transcription	Right Ventricle	heart
29	chr22:31318400-31321400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr22:31318400-31321400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr22:31318400-31322800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:31318400-31322800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr22:31318400-31324400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr22:31318400-31342200	Weak transcription	Right Atrium	heart
35	chr22:31318600-31320000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:31318600-31320000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr22:31318600-31320200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr22:31318600-31320200	Weak transcription	Brain Hippocampus Middle	brain
39	chr22:31318600-31320200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr22:31318600-31320200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr22:31318600-31320400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr22:31318600-31320400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr22:31318600-31320600	Weak transcription	Adipose Nuclei	Adipose
44	chr22:31318600-31320600	Weak transcription	Liver	Liver
45	chr22:31318600-31320600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr22:31318600-31320600	Weak transcription	Spleen	Spleen
47	chr22:31318600-31320800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:31318600-31320800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr22:31318600-31320800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr22:31318600-31320800	Weak transcription	Brain Angular Gyrus	brain

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