Variant report

Variant	rs13054555
Chromosome Location	chr22:31055131-31055132
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	CEBPB	chr22:31054978-31055184	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31054805..31058867-chr22:31060590..31064602,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250318	TF binding region
ENSG00000167065	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2078976	0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2240002	0.87[AMR][1000 genomes]
rs5753265	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5997731	0.82[AMR][1000 genomes]
rs713853	0.86[AMR][1000 genomes]
rs757027	0.92[AMR][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	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
2	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31033400-31058200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr22:31033600-31058000	Weak transcription	Adipose Nuclei	Adipose
3	chr22:31033600-31058000	Weak transcription	Fetal Lung	lung
4	chr22:31033800-31057600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:31034000-31059400	Weak transcription	Aorta	Aorta
6	chr22:31034200-31057800	Weak transcription	Colon Smooth Muscle	Colon
7	chr22:31034200-31058800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr22:31040200-31060800	Weak transcription	Fetal Brain Male	brain
9	chr22:31040600-31055800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr22:31043600-31055400	Weak transcription	Fetal Stomach	stomach
11	chr22:31044200-31057600	Weak transcription	Ovary	ovary
12	chr22:31044200-31058000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr22:31045200-31062800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr22:31045400-31057600	Weak transcription	Colonic Mucosa	Colon
15	chr22:31045400-31057600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr22:31045400-31062800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr22:31045400-31062800	Weak transcription	NH-A	brain
18	chr22:31045600-31058200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr22:31045600-31062800	Weak transcription	HSMMtube	muscle
20	chr22:31045800-31057600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr22:31045800-31057800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr22:31045800-31061400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr22:31045800-31062200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr22:31046000-31057600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:31046000-31057600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr22:31046000-31057600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr22:31046000-31057600	Weak transcription	NHDF-Ad	bronchial
28	chr22:31046000-31057800	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr22:31046000-31057800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:31046000-31057800	Weak transcription	Osteobl	bone
31	chr22:31046000-31058000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr22:31046000-31058400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr22:31046000-31062000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr22:31046000-31062200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr22:31046000-31062600	Weak transcription	HMEC	breast
36	chr22:31046000-31062600	Weak transcription	NHLF	lung
37	chr22:31046800-31057600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr22:31046800-31057600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:31046800-31057600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr22:31046800-31062000	Weak transcription	Stomach Mucosa	stomach
41	chr22:31047000-31055800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr22:31047000-31057600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr22:31047000-31057600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr22:31047000-31057600	Weak transcription	Fetal Intestine Large	intestine
45	chr22:31047000-31057600	Weak transcription	Fetal Muscle Leg	muscle
46	chr22:31047000-31057800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr22:31047000-31057800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr22:31047000-31058000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr22:31047000-31058200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:31047000-31058200	Weak transcription	Right Ventricle	heart

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