Variant report

Variant	rs480700
Chromosome Location	chr9:14079067-14079068
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	chr9:14074317..14076748-chr9:14077516..14080431,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10756530	0.85[CEU][hapmap]
rs10810093	0.86[CEU][hapmap];0.83[TSI][hapmap]
rs1689280	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1689282	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs484555	0.85[CEU][hapmap];0.81[GIH][hapmap];0.84[MEX][hapmap]
rs497789	0.82[CEU][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes]
rs510777	0.81[EUR][1000 genomes]
rs516075	0.83[EUR][1000 genomes]
rs516090	0.83[EUR][1000 genomes]
rs516325	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs574460	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs580501	0.91[CEU][hapmap]
rs580845	0.86[ASW][hapmap];0.91[GIH][hapmap];1.00[YRI][hapmap]
rs7019649	0.86[CEU][hapmap];0.86[GIH][hapmap];0.82[TSI][hapmap]
rs7034211	0.82[CEU][hapmap];0.84[GIH][hapmap];0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs480700	C9orf93	cis	cerebellum	SCAN
rs480700	CCDC92	trans	parietal	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14073400-14092600	Weak transcription	Aorta	Aorta
2	chr9:14074800-14090400	Weak transcription	Adipose Nuclei	Adipose
3	chr9:14075400-14116000	Weak transcription	Gastric	stomach
4	chr9:14075600-14082800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:14075800-14079600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:14075800-14080400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:14076000-14079600	Weak transcription	HMEC	breast
8	chr9:14076000-14079800	Weak transcription	NHEK	skin
9	chr9:14076000-14080600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:14076000-14083600	Weak transcription	Fetal Heart	heart
11	chr9:14076600-14084400	Weak transcription	Left Ventricle	heart
12	chr9:14077000-14079600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr9:14077200-14079800	Enhancers	Fetal Lung	lung
14	chr9:14077800-14080800	Weak transcription	HSMM	muscle
15	chr9:14077800-14084400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:14077800-14084400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:14077800-14088800	Weak transcription	Fetal Brain Female	brain
18	chr9:14078000-14080800	Weak transcription	Osteobl	bone
19	chr9:14078000-14112800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr9:14078200-14085200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:14078600-14079600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr9:14078600-14081200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:14078600-14088000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:14078800-14079200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr9:14078800-14079400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:14078800-14079400	Enhancers	H9 Cell Line	embryonic stem cell
27	chr9:14078800-14079600	Strong transcription	Fetal Muscle Leg	muscle
28	chr9:14078800-14079800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:14078800-14079800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:14078800-14080000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr9:14078800-14081000	Weak transcription	Fetal Stomach	stomach
32	chr9:14079000-14079800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr9:14079000-14080000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr9:14079000-14084400	Weak transcription	Lung	lung

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