Variant report

Variant	rs505384
Chromosome Location	chr10:89923849-89923850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:89923474..89925922-chr10:89936717..89938550,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2162361	1.00[LWK][hapmap]
rs481840	0.90[EUR][1000 genomes]
rs490265	0.87[EUR][1000 genomes]
rs501751	0.87[EUR][1000 genomes]
rs510727	0.87[EUR][1000 genomes]
rs538292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539299	0.90[EUR][1000 genomes]
rs575865	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs577880	0.92[CEU][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs640906	0.90[EUR][1000 genomes]
rs642864	0.87[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	nsv831940	chr10:89811247-89989199	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs505384	LRIT2	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:89912800-89925000	Weak transcription	Left Ventricle	heart
2	chr10:89913000-89924400	Weak transcription	Right Atrium	heart
3	chr10:89915200-89929600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:89918200-89937600	Weak transcription	Aorta	Aorta
5	chr10:89918400-89925600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr10:89919000-89924200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:89919200-89924200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:89919200-89924200	Weak transcription	NHDF-Ad	bronchial
9	chr10:89919200-89924400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr10:89919200-89925200	Weak transcription	NH-A	brain
11	chr10:89919200-89925600	Weak transcription	NHEK	skin
12	chr10:89921600-89927000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr10:89922000-89924200	Weak transcription	Ovary	ovary
14	chr10:89922000-89937600	Weak transcription	Thymus	Thymus
15	chr10:89922800-89925600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:89923000-89924400	Weak transcription	NHLF	lung
17	chr10:89923000-89925400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr10:89923200-89925000	Weak transcription	HMEC	breast
19	chr10:89923200-89926600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr10:89923400-89927000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr10:89923600-89925600	Weak transcription	HUVEC	blood vessel
22	chr10:89923600-89927200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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