Variant report

Variant	rs9609018
Chromosome Location	chr22:31004632-31004633
allele	C/T
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	EBF1	chr22:31004621-31004965	GM12878	blood:	n/a	chr22:31004770-31004780 chr22:31004769-31004782 chr22:31004878-31004887 chr22:31004772-31004781 chr22:31004770-31004783
2	EBF1	chr22:31003850-31005054	GM12878	blood:	n/a	chr22:31004770-31004780 chr22:31004769-31004782 chr22:31004212-31004223 chr22:31004878-31004887 chr22:31004772-31004781 chr22:31004770-31004783
3	EBF1	chr22:31004588-31005053	GM12878	blood:	n/a	chr22:31004770-31004780 chr22:31004769-31004782 chr22:31004878-31004887 chr22:31004772-31004781 chr22:31004770-31004783

No.	Distal block	Cell Line	Cell type
1	chr22:31001781..31003310-chr22:31003828..31005439,2	K562	blood:
2	chr22:31001608..31004689-chr22:31008894..31012791,3	K562	blood:
3	chr22:30998699..31001313-chr22:31003661..31005659,2	K562	blood:
4	chr22:30986017..30988291-chr22:31003430..31005717,3	K562	blood:

Variant related genes	Relation type
PES1	TF binding region
ENSG00000100029	Chromatin interaction
ENSG00000185339	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28704032	1.00[AFR][1000 genomes]
rs9606758	1.00[AFR][1000 genomes]
rs9606763	1.00[AFR][1000 genomes]
rs9609030	1.00[AFR][1000 genomes]
rs9609033	1.00[AFR][1000 genomes]
rs9609038	1.00[AFR][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	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
3	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31001400-31006400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr22:31002000-31007000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:31002200-31004800	Weak transcription	Hela-S3	cervix
4	chr22:31002200-31005000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr22:31003000-31005000	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr22:31003000-31005600	Enhancers	Primary B cells from cord blood	blood
7	chr22:31003200-31005600	Enhancers	Primary B cells from peripheral blood	blood
8	chr22:31003200-31006000	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr22:31003200-31007000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr22:31003200-31031200	Weak transcription	Aorta	Aorta
11	chr22:31003400-31005200	Weak transcription	Ovary	ovary
12	chr22:31003400-31005400	Enhancers	Gastric	stomach
13	chr22:31003400-31005800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr22:31003400-31006000	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr22:31003400-31006400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:31003400-31006600	Enhancers	Fetal Thymus	thymus
17	chr22:31003400-31007000	Enhancers	Spleen	Spleen
18	chr22:31003600-31004800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr22:31003600-31004800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr22:31003600-31004800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr22:31003600-31004800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:31003600-31004800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:31003600-31004800	Enhancers	K562	blood
24	chr22:31003600-31004800	Weak transcription	NH-A	brain
25	chr22:31003600-31004800	Weak transcription	NHEK	skin
26	chr22:31003600-31005000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr22:31003600-31005000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:31003600-31005200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:31003600-31005200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:31003600-31005200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr22:31003600-31005400	Enhancers	Small Intestine	intestine
32	chr22:31003600-31005600	Enhancers	NHLF	lung
33	chr22:31003600-31006000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:31003600-31006000	Enhancers	Colonic Mucosa	Colon
35	chr22:31003600-31006000	Enhancers	Esophagus	oesophagus
36	chr22:31003600-31006000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr22:31003600-31006000	Enhancers	Stomach Mucosa	stomach
38	chr22:31003600-31006000	Enhancers	HSMM	muscle
39	chr22:31003600-31006200	Enhancers	Fetal Muscle Trunk	muscle
40	chr22:31003600-31006400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr22:31003600-31006400	Enhancers	NHDF-Ad	bronchial
42	chr22:31003600-31006600	Enhancers	Fetal Muscle Leg	muscle
43	chr22:31003800-31004800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr22:31003800-31004800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr22:31003800-31004800	Weak transcription	HMEC	breast
46	chr22:31003800-31005000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:31003800-31005000	Enhancers	Brain Angular Gyrus	brain
48	chr22:31003800-31005000	Enhancers	Lung	lung
49	chr22:31003800-31005000	Enhancers	Psoas Muscle	Psoas
50	chr22:31003800-31005200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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