Variant report

Variant	rs10816561
Chromosome Location	chr9:110472452-110472453
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	chr9:110249469..110252928-chr9:110471140..110477348,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136826	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10979018	1.00[ASW][hapmap]
rs10979021	1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[ASN][1000 genomes]
rs2417804	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1808541	chr9:110444938-110488612	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv427850	chr9:110456613-110632324	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv428221	chr9:110456613-110632324	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10816561	ZNF462	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110466200-110474200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr9:110467200-110475800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:110467200-110475800	Enhancers	HMEC	breast
4	chr9:110468400-110473400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:110468400-110473400	Weak transcription	Fetal Intestine Small	intestine
6	chr9:110468400-110473600	Weak transcription	Fetal Intestine Large	intestine
7	chr9:110469000-110473400	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr9:110470000-110479600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:110470600-110472600	Weak transcription	Osteobl	bone
10	chr9:110470600-110473200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:110470600-110473200	Weak transcription	Hela-S3	cervix
12	chr9:110470600-110473600	Weak transcription	HSMMtube	muscle
13	chr9:110470600-110473800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr9:110470600-110474600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:110470800-110473400	Weak transcription	A549	lung
16	chr9:110470800-110473600	Weak transcription	Spleen	Spleen
17	chr9:110470800-110474000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:110470800-110474400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:110471200-110472800	Weak transcription	HSMM	muscle
20	chr9:110471200-110472800	Weak transcription	NHDF-Ad	bronchial
21	chr9:110471400-110472600	Weak transcription	NHLF	lung
22	chr9:110471400-110473200	Weak transcription	NHEK	skin
23	chr9:110471400-110473400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:110471800-110473400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr9:110471800-110473600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr9:110472200-110473400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:110472200-110483000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:110472400-110475200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr9:110472400-110475200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr9:110472400-110475600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:110472400-110475600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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