Variant report

Variant	rs508485
Chromosome Location	chr11:94354479-94354480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94352776..94354932-chr11:94361106..94363864,2	K562	blood:
2	chr11:94352894..94355627-chr11:94704967..94707555,2	MCF-7	breast:
3	chr11:94354386..94356364-chr11:94503854..94506706,2	K562	blood:

Variant related genes	Relation type
ENSG00000186280	Chromatin interaction
ENSG00000150316	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs504010	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584426	0.82[CEU][hapmap]
rs621425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs621922	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs656244	0.82[CEU][hapmap]
rs7933369	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs508485	SNORA40	cis	cerebellum	SCAN
rs508485	RP11-685N10.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94325200-94357600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:94341600-94355200	Weak transcription	Ovary	ovary
3	chr11:94341600-94355200	Weak transcription	Pancreas	Pancrea
4	chr11:94341600-94355400	Weak transcription	Gastric	stomach
5	chr11:94345000-94354800	Weak transcription	Left Ventricle	heart
6	chr11:94347000-94355400	Weak transcription	Brain Substantia Nigra	brain
7	chr11:94347000-94355600	Weak transcription	Brain Hippocampus Middle	brain
8	chr11:94347000-94355800	Weak transcription	NHDF-Ad	bronchial
9	chr11:94347400-94354800	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:94347400-94356600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:94347600-94357200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:94347600-94359600	Weak transcription	Adipose Nuclei	Adipose
13	chr11:94347800-94355600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr11:94348000-94355200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:94348200-94358400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:94348600-94355400	Weak transcription	Spleen	Spleen
17	chr11:94349000-94356000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:94349400-94355400	Weak transcription	Primary T cells from cord blood	blood
19	chr11:94349600-94355400	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr11:94349600-94357000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:94349800-94355600	Strong transcription	Fetal Intestine Large	intestine
22	chr11:94350200-94358000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:94350200-94358200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:94350600-94355600	Weak transcription	Lung	lung
25	chr11:94351000-94354800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:94351400-94356200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:94352200-94357200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:94353800-94356600	Weak transcription	Fetal Intestine Small	intestine
29	chr11:94354000-94355800	Weak transcription	Brain Anterior Caudate	brain
30	chr11:94354000-94359600	Weak transcription	Aorta	Aorta
31	chr11:94354200-94356000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:94354200-94356200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:94354200-94356400	Weak transcription	Fetal Stomach	stomach
34	chr11:94354200-94356600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:94354200-94359400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:94354400-94357400	Weak transcription	Rectal Mucosa Donor 31	rectum

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