Variant report

Variant	rs9898218
Chromosome Location	chr17:46106634-46106635
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 9 )

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

rs_ID	r²[population]
rs12051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12601350	0.94[ASN][1000 genomes]
rs12602131	0.94[ASN][1000 genomes]
rs12602670	0.98[ASN][1000 genomes]
rs1473117	0.93[ASN][1000 genomes]
rs2240119	0.93[CHB][hapmap];1.00[CHD][hapmap];0.93[JPT][hapmap];0.98[ASN][1000 genomes]
rs58554000	0.93[ASN][1000 genomes]
rs72823528	0.98[ASN][1000 genomes]
rs72823532	0.98[ASN][1000 genomes]
rs72823533	0.94[ASN][1000 genomes]
rs757353	0.93[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs9898218	ATXN7L3	cis	cerebellum	SCAN
rs9898218	HOXB2	cis	multi-tissue	Pritchard
rs9898218	PNPO	cis	cerebellum	SCAN
rs9898218	C17orf57	cis	parietal	SCAN
rs9898218	NFE2L1	cis	cerebellum	SCAN
rs9898218	OSBPL7	cis	cerebellum	SCAN
rs9898218	G6PC	cis	parietal	SCAN
rs9898218	PNPO	cis	parietal	SCAN
rs9898218	HOXB6	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46103600-46110600	Weak transcription	Aorta	Aorta
2	chr17:46103800-46107800	Weak transcription	HUVEC	blood vessel
3	chr17:46104200-46113800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr17:46104400-46107800	Weak transcription	Adipose Nuclei	Adipose
5	chr17:46104400-46107800	Weak transcription	Brain Germinal Matrix	brain
6	chr17:46104400-46109200	Weak transcription	Left Ventricle	heart
7	chr17:46104400-46109400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:46104400-46109600	Weak transcription	Ovary	ovary
9	chr17:46104400-46110600	Weak transcription	Spleen	Spleen
10	chr17:46104400-46111000	Weak transcription	Lung	lung
11	chr17:46104400-46114000	Weak transcription	Liver	Liver
12	chr17:46104400-46114000	Weak transcription	Right Ventricle	heart
13	chr17:46104400-46114200	Weak transcription	Brain Substantia Nigra	brain
14	chr17:46104600-46107200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:46104600-46107600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:46104600-46107600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:46104600-46107600	Weak transcription	Esophagus	oesophagus
18	chr17:46104600-46107800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr17:46104600-46107800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr17:46104600-46107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:46104600-46107800	Weak transcription	Colon Smooth Muscle	Colon
22	chr17:46104600-46107800	Weak transcription	NH-A	brain
23	chr17:46104600-46107800	Weak transcription	NHLF	lung
24	chr17:46104600-46107800	Weak transcription	Osteobl	bone
25	chr17:46104600-46109000	Weak transcription	Fetal Stomach	stomach
26	chr17:46104600-46109200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:46104600-46109200	Weak transcription	Stomach Smooth Muscle	stomach
28	chr17:46104600-46113800	Weak transcription	HSMM	muscle
29	chr17:46104600-46114000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:46104600-46114000	Weak transcription	Brain Hippocampus Middle	brain
31	chr17:46104800-46107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:46104800-46107800	Weak transcription	Hela-S3	cervix
33	chr17:46104800-46107800	Weak transcription	HMEC	breast
34	chr17:46104800-46108000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:46104800-46109400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr17:46104800-46111000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:46104800-46113800	Weak transcription	NHDF-Ad	bronchial
38	chr17:46104800-46114000	Weak transcription	HSMMtube	muscle
39	chr17:46105000-46107600	Weak transcription	NHEK	skin
40	chr17:46105000-46107800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:46105000-46107800	Weak transcription	Fetal Muscle Leg	muscle
42	chr17:46105000-46113800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr17:46105200-46107800	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr17:46105200-46109400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:46105400-46107800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr17:46105400-46114000	Weak transcription	K562	blood
47	chr17:46105600-46114000	Weak transcription	Pancreas	Pancrea
48	chr17:46106000-46107800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:46106200-46107800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr17:46106400-46107600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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