Variant report

Variant	rs7288765
Chromosome Location	chr22:31281876-31281877
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	POLR2A	chr22:31281836-31281877	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:31281702-31281916	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr22:31279815-31282034	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr22:31281696-31281895	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31275934..31283484-chr22:31284259..31290179,9	K562	blood:

Variant related genes	Relation type
OSBP2	TF binding region
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11912471	1.00[EUR][1000 genomes]
rs57114503	1.00[EUR][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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31265200-31299400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:31266400-31295200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr22:31269400-31284200	Weak transcription	NHEK	skin
4	chr22:31269800-31283400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:31274200-31308400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr22:31275200-31284200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:31275600-31283400	Weak transcription	Brain Germinal Matrix	brain
8	chr22:31275800-31283600	Weak transcription	HSMM	muscle
9	chr22:31275800-31284800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:31275800-31285000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr22:31275800-31289400	Weak transcription	NHDF-Ad	bronchial
12	chr22:31276400-31283400	Weak transcription	Fetal Brain Female	brain
13	chr22:31276400-31283600	Weak transcription	Brain Substantia Nigra	brain
14	chr22:31277800-31295200	Weak transcription	Fetal Brain Male	brain
15	chr22:31278000-31283400	Weak transcription	Brain Hippocampus Middle	brain
16	chr22:31278000-31290000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr22:31278200-31283200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr22:31278200-31283400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:31278200-31284400	Weak transcription	Gastric	stomach
20	chr22:31278200-31285200	Weak transcription	Esophagus	oesophagus
21	chr22:31278200-31286600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr22:31278200-31288200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr22:31278400-31283400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr22:31278400-31283400	Weak transcription	Fetal Stomach	stomach
25	chr22:31278400-31283600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:31278400-31283600	Weak transcription	Pancreas	Pancrea
27	chr22:31278400-31286200	Weak transcription	Fetal Muscle Leg	muscle
28	chr22:31278400-31288600	Weak transcription	HSMMtube	muscle
29	chr22:31278400-31291800	Weak transcription	HMEC	breast
30	chr22:31278400-31292600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr22:31278400-31301600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:31278600-31285600	Weak transcription	Liver	Liver
33	chr22:31278600-31321400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:31278800-31295000	Weak transcription	Small Intestine	intestine
35	chr22:31278800-31301600	Weak transcription	A549	lung
36	chr22:31279400-31283600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr22:31279400-31288600	Weak transcription	Hela-S3	cervix
38	chr22:31279600-31283600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr22:31279600-31285600	Weak transcription	HepG2	liver
40	chr22:31280000-31283400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr22:31280000-31285000	Weak transcription	Right Ventricle	heart
42	chr22:31280000-31285200	Weak transcription	Left Ventricle	heart
43	chr22:31280200-31287200	Genic enhancers	Fetal Intestine Small	intestine
44	chr22:31280200-31288200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:31280600-31282200	Weak transcription	Fetal Heart	heart
46	chr22:31280600-31284600	Weak transcription	Fetal Lung	lung
47	chr22:31281000-31283400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr22:31281200-31283200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:31281200-31283400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr22:31281400-31288800	Weak transcription	Lung	lung

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