Variant report

Variant	rs762886
Chromosome Location	chr22:33148577-33148578
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	chr22:33144568..33146477-chr22:33146866..33149245,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10483165	0.82[JPT][hapmap]
rs1074421	0.82[JPT][hapmap]
rs11703138	0.82[JPT][hapmap]
rs11704261	0.82[JPT][hapmap]
rs5994622	0.82[JPT][hapmap]
rs5998614	0.82[JPT][hapmap]
rs5998623	0.82[JPT][hapmap]
rs5998625	0.82[JPT][hapmap]
rs5998629	0.82[JPT][hapmap]
rs7284103	0.82[JPT][hapmap]
rs7287772	0.82[JPT][hapmap]
rs7291454	0.82[JPT][hapmap]
rs738990	0.82[JPT][hapmap]
rs8136169	0.82[JPT][hapmap]
rs8139641	0.82[JPT][hapmap]
rs8142064	0.82[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	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs762886	MTMR3	cis	parietal	SCAN
rs762886	PISD	cis	cerebellum	SCAN
rs762886	CCDC117	cis	parietal	SCAN
rs762886	SMTN	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33141600-33150600	Weak transcription	Spleen	Spleen
2	chr22:33142600-33150600	Weak transcription	HMEC	breast
3	chr22:33143000-33148600	Weak transcription	Right Ventricle	heart
4	chr22:33143000-33149800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr22:33143000-33150400	Weak transcription	Lung	lung
6	chr22:33143000-33150600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr22:33143200-33148600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:33143200-33148600	Weak transcription	Fetal Muscle Leg	muscle
9	chr22:33143200-33150600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr22:33144000-33148600	Weak transcription	Adipose Nuclei	Adipose
11	chr22:33144000-33149200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:33144000-33149200	Weak transcription	Right Atrium	heart
13	chr22:33144000-33150400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:33144000-33150600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr22:33144800-33150400	Weak transcription	Left Ventricle	heart
16	chr22:33145800-33150400	Enhancers	HepG2	liver
17	chr22:33146600-33148600	Weak transcription	Fetal Thymus	thymus
18	chr22:33147600-33148600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:33147800-33150400	Weak transcription	Liver	Liver
20	chr22:33147800-33150400	Weak transcription	Hela-S3	cervix
21	chr22:33148000-33149800	Enhancers	NHDF-Ad	bronchial
22	chr22:33148000-33151200	Enhancers	HSMM	muscle
23	chr22:33148000-33151200	Enhancers	NH-A	brain
24	chr22:33148000-33151200	Enhancers	Osteobl	bone
25	chr22:33148000-33151400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:33148200-33149600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:33148200-33149800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr22:33148200-33150000	Enhancers	Fetal Stomach	stomach
29	chr22:33148400-33149200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:33148400-33149200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:33148400-33149400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr22:33148400-33149400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:33148400-33149600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr22:33148400-33149800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr22:33148400-33149800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr22:33148400-33151000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr22:33148400-33151200	Enhancers	Fetal Muscle Trunk	muscle

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