Variant report

Variant	rs9420592
Chromosome Location	chr10:94514975-94514976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:94511052..94514419-chr10:94514793..94517097,3	K562	blood:
2	chr10:94513316..94515938-chr10:94534466..94536258,2	K562	blood:
3	chr10:94513991..94515865-chr10:94590437..94593141,2	K562	blood:
4	chr10:94454513..94457218-chr10:94513369..94516034,3	K562	blood:
5	chr10:94459361..94461445-chr10:94514300..94516299,2	K562	blood:
6	chr10:94514784..94516606-chr10:94517572..94519517,2	K562	blood:
7	chr10:94448814..94452346-chr10:94514330..94519117,6	K562	blood:
8	chr10:94448776..94451564-chr10:94514826..94518516,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138190	Chromatin interaction
ENSG00000152804	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1935492	0.88[EUR][1000 genomes]
rs2488062	0.88[AFR][1000 genomes]
rs2497346	0.87[EUR][1000 genomes]
rs2497347	0.87[AFR][1000 genomes]
rs2497349	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs2497350	1.00[YRI][hapmap];0.87[AFR][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	esv3446249	chr10:94374508-94549394	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9420592	DNTT	cis	cerebellum	SCAN
rs9420592	PDE6C	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94511200-94515600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:94511200-94515600	Weak transcription	Hela-S3	cervix
3	chr10:94511200-94516400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:94511400-94516200	Weak transcription	Osteobl	bone
5	chr10:94511400-94516400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:94511600-94515600	Weak transcription	Adipose Nuclei	Adipose
7	chr10:94511600-94515600	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:94511600-94515800	Weak transcription	A549	lung
9	chr10:94512200-94516600	Enhancers	Primary B cells from peripheral blood	blood
10	chr10:94513000-94515600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:94513000-94515600	Enhancers	K562	blood
12	chr10:94513000-94516000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:94513200-94515600	Enhancers	Primary hematopoietic stem cells	blood
14	chr10:94513200-94515600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr10:94513200-94515800	Enhancers	Primary B cells from cord blood	blood
16	chr10:94513400-94517200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr10:94513600-94515600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr10:94513800-94515600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr10:94514000-94516000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:94514400-94515600	Enhancers	HUVEC	blood vessel
21	chr10:94514400-94515800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr10:94514600-94518000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr10:94514800-94515600	Enhancers	GM12878-XiMat	blood
24	chr10:94514800-94515600	Enhancers	HepG2	liver
25	chr10:94514800-94518200	Enhancers	Skeletal Muscle Female	skeletal muscle

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