Variant report

Variant	rs5752718
Chromosome Location	chr22:28691681-28691682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1072967	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs16986346	0.81[ASN][1000 genomes]
rs2064360	0.90[JPT][hapmap]
rs5762478	1.00[JPT][hapmap]
rs5762508	0.90[JPT][hapmap]
rs5762540	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs5762568	0.81[ASN][1000 genomes]
rs5762632	0.81[CHB][hapmap]
rs5997354	0.90[ASN][1000 genomes]
rs60891699	0.91[ASN][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs5752718	BCR	cis	cerebellum	SCAN
rs5752718	C22orf15	cis	cerebellum	SCAN
rs5752718	TFIP11	cis	cerebellum	SCAN
rs5752718	GAL3ST1	cis	cerebellum	SCAN
rs5752718	SF3A1	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28679200-28693200	Weak transcription	Fetal Stomach	stomach
2	chr22:28679400-28695800	Weak transcription	Aorta	Aorta
3	chr22:28680000-28692800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr22:28680000-28693400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:28680200-28693400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:28680200-28696000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr22:28680200-28696000	Weak transcription	NHDF-Ad	bronchial
8	chr22:28680200-28702000	Weak transcription	Osteobl	bone
9	chr22:28681600-28695200	Weak transcription	Fetal Lung	lung
10	chr22:28683400-28698200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr22:28685000-28704400	Weak transcription	Fetal Intestine Small	intestine
12	chr22:28686400-28695400	Weak transcription	Fetal Muscle Leg	muscle
13	chr22:28688600-28695400	Weak transcription	Ovary	ovary
14	chr22:28688800-28695000	Weak transcription	Fetal Brain Female	brain
15	chr22:28689200-28693600	Weak transcription	Left Ventricle	heart
16	chr22:28689600-28693600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:28690000-28693600	Weak transcription	NHLF	lung
18	chr22:28690000-28702200	Weak transcription	Fetal Intestine Large	intestine
19	chr22:28690200-28692000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:28690400-28693400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr22:28690600-28695800	Strong transcription	Dnd41	blood
22	chr22:28691000-28693800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:28691200-28692000	Strong transcription	Adipose Nuclei	Adipose
24	chr22:28691600-28692600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr22:28691600-28693800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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