Variant report

Variant	rs137500
Chromosome Location	chr22:33276686-33276687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:33275938..33278080-chr22:33280895..33283450,2	K562	blood:
2	22:32920308-32927723..22:33273392-33279610	K562	blood:
3	22:32292186-32294405..22:33273392-33279610	K562	blood:
4	chr22:33265719..33267942-chr22:33275448..33277147,2	K562	blood:

Variant related genes	Relation type
ENSG00000100150	Chromatin interaction
ENSG00000185666	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13054818	0.84[CHB][hapmap]
rs137498	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs137503	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs137506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs137515	0.92[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs137520	0.96[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs137528	0.96[CEU][hapmap];0.84[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs137538	0.96[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs137548	0.85[CEU][hapmap];0.85[CHD][hapmap];0.84[JPT][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4448	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4450	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4451	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs137500	OSBP2	cis	cerebellum	SCAN
rs137500	SYN3	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33237400-33282200	Weak transcription	Fetal Brain Female	brain
2	chr22:33257800-33282000	Weak transcription	HepG2	liver
3	chr22:33265200-33282000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr22:33265600-33287000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:33270800-33287200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:33274200-33286200	Enhancers	Fetal Heart	heart
7	chr22:33274400-33277600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:33275000-33280200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:33275400-33277200	Enhancers	Fetal Thymus	thymus
10	chr22:33275400-33279600	Enhancers	Primary hematopoietic stem cells	blood
11	chr22:33275400-33279600	Enhancers	Fetal Muscle Leg	muscle
12	chr22:33275400-33285400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr22:33275600-33277600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:33275800-33277000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:33275800-33284000	Enhancers	Fetal Stomach	stomach
16	chr22:33276000-33276800	Enhancers	HSMM	muscle
17	chr22:33276000-33277600	Enhancers	Stomach Smooth Muscle	stomach
18	chr22:33276000-33277800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:33276000-33277800	Enhancers	Fetal Intestine Large	intestine
20	chr22:33276000-33277800	Enhancers	Fetal Intestine Small	intestine
21	chr22:33276000-33279600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr22:33276200-33277600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:33276200-33277600	Enhancers	Left Ventricle	heart
24	chr22:33276200-33277600	Enhancers	Lung	lung
25	chr22:33276200-33277600	Enhancers	Right Atrium	heart
26	chr22:33276200-33277600	Enhancers	HSMMtube	muscle
27	chr22:33276200-33278200	Enhancers	Right Ventricle	heart
28	chr22:33276200-33278400	Enhancers	Placenta	Placenta
29	chr22:33276200-33279000	Enhancers	Fetal Muscle Trunk	muscle
30	chr22:33276200-33279400	Enhancers	Fetal Lung	lung
31	chr22:33276400-33277000	Enhancers	Ovary	ovary
32	chr22:33276400-33277400	Flanking Active TSS	K562	blood
33	chr22:33276400-33277600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr22:33276400-33277600	Enhancers	Duodenum Mucosa	Duodenum
35	chr22:33276400-33277600	Enhancers	Spleen	Spleen
36	chr22:33276600-33277600	Enhancers	Brain Germinal Matrix	brain
37	chr22:33276600-33277600	Enhancers	Brain Hippocampus Middle	brain
38	chr22:33276600-33278000	Enhancers	Thymus	Thymus

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