Variant report

Variant	rs715572
Chromosome Location	chr22:33234931-33234932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33234675..33236559-chr22:33386766..33389702,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs130270	0.84[JPT][hapmap]
rs130274	0.88[CHD][hapmap];0.94[JPT][hapmap]
rs130275	0.84[CHD][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap]
rs130287	0.87[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap]
rs130303	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs130560	0.83[JPT][hapmap]
rs1962223	0.84[JPT][hapmap]
rs4504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749526	1.00[YRI][hapmap]
rs5749530	1.00[YRI][hapmap]
rs5754280	1.00[YRI][hapmap]
rs5754320	1.00[YRI][hapmap]
rs80269	0.84[JPT][hapmap]

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	nsv3599	chr22:33230106-33274789	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs715572	OSBP2	cis	cerebellum	SCAN
rs715572	SLC5A1	cis	cerebellum	SCAN
rs715572	INPP5J	cis	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33211000-33240400	Genic enhancers	Left Ventricle	heart
2	chr22:33217800-33248600	Weak transcription	Gastric	stomach
3	chr22:33222200-33236000	Enhancers	Right Atrium	heart
4	chr22:33222600-33240400	Genic enhancers	Adipose Nuclei	Adipose
5	chr22:33222600-33258800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr22:33222800-33238200	Genic enhancers	Fetal Muscle Leg	muscle
7	chr22:33223400-33235400	Weak transcription	Fetal Intestine Large	intestine
8	chr22:33226200-33236200	Weak transcription	Fetal Intestine Small	intestine
9	chr22:33226600-33235600	Weak transcription	NH-A	brain
10	chr22:33226600-33238000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr22:33226600-33238400	Enhancers	Fetal Heart	heart
12	chr22:33227000-33235000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:33227400-33235400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:33227600-33237200	Strong transcription	HepG2	liver
16	chr22:33227600-33248800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr22:33227600-33249400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:33227800-33236800	Weak transcription	Liver	Liver
19	chr22:33227800-33252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr22:33227800-33253200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr22:33228000-33236800	Weak transcription	Brain Angular Gyrus	brain
22	chr22:33228000-33245000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:33228000-33252200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:33228000-33252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr22:33228600-33235600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:33228800-33236800	Genic enhancers	Right Ventricle	heart
27	chr22:33229000-33235400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:33231200-33245400	Weak transcription	NHLF	lung
29	chr22:33231800-33240400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr22:33232200-33237400	Enhancers	Rectal Smooth Muscle	rectum
31	chr22:33232200-33239800	Genic enhancers	Fetal Stomach	stomach
32	chr22:33232400-33235800	Enhancers	Spleen	Spleen
33	chr22:33232400-33236000	Genic enhancers	Placenta Amnion	Placenta Amnion
34	chr22:33232400-33239200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:33232400-33245600	Weak transcription	HSMMtube	muscle
36	chr22:33232600-33235400	Enhancers	Esophagus	oesophagus
37	chr22:33232600-33235800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr22:33232600-33236000	Genic enhancers	Placenta	Placenta
39	chr22:33232600-33236000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr22:33232600-33237400	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr22:33232600-33237600	Enhancers	Brain Anterior Caudate	brain
42	chr22:33232600-33238400	Genic enhancers	Lung	lung
43	chr22:33232800-33235000	Weak transcription	Colonic Mucosa	Colon
44	chr22:33233000-33237200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr22:33233000-33239400	Weak transcription	Psoas Muscle	Psoas
46	chr22:33233200-33235000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:33233400-33235400	Weak transcription	Fetal Thymus	thymus
48	chr22:33233600-33235000	Weak transcription	HMEC	breast
49	chr22:33233800-33237000	Enhancers	Ovary	ovary
50	chr22:33233800-33237600	Enhancers	Brain Hippocampus Middle	brain

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