Variant report

Variant	rs7851185
Chromosome Location	chr9:117956828-117956829
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1000109	0.85[TSI][hapmap]
rs10759757	0.85[TSI][hapmap]
rs10817716	0.85[TSI][hapmap]
rs10817718	0.88[CHB][hapmap];0.82[GIH][hapmap];0.85[TSI][hapmap];0.88[YRI][hapmap]
rs10817723	0.81[ASN][1000 genomes]
rs10982557	1.00[CHB][hapmap]
rs10982572	1.00[CHB][hapmap]
rs10982598	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1111784	0.85[TSI][hapmap]
rs11788578	0.80[CEU][hapmap]
rs11793679	0.85[TSI][hapmap]
rs11794627	0.86[CHB][hapmap]
rs1335349	0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1335350	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1414145	0.84[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1414146	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16936516	0.85[TSI][hapmap]
rs2012566	0.85[TSI][hapmap]
rs2012775	0.85[TSI][hapmap]
rs4978627	0.84[CEU][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4979506	1.00[CHB][hapmap]
rs62577989	1.00[ASN][1000 genomes]
rs7029482	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7032660	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7040243	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7849266	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7849460	0.82[TSI][hapmap]
rs7849467	0.85[TSI][hapmap]
rs7850000	0.88[CHB][hapmap]
rs7865971	0.86[CHB][hapmap]
rs7866695	0.81[CEU][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv893769	chr9:117936903-117985886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7851185	C9orf80	cis	cerebellum	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117930000-117964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:117945600-117959400	Weak transcription	Fetal Kidney	kidney
3	chr9:117945800-117959600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:117954400-117957400	Enhancers	Colon Smooth Muscle	Colon
5	chr9:117954600-117957000	Enhancers	NHLF	lung
6	chr9:117954600-117957400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:117954600-117959400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:117955000-117957400	Enhancers	NHDF-Ad	bronchial
9	chr9:117955200-117957200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:117955200-117957200	Enhancers	Adipose Nuclei	Adipose
11	chr9:117955400-117957200	Enhancers	Osteobl	bone
12	chr9:117955600-117957200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:117955600-117959000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr9:117955600-117959400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:117955600-117960200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:117955600-117960400	Weak transcription	Fetal Stomach	stomach
17	chr9:117955600-117960400	Weak transcription	Spleen	Spleen
18	chr9:117955600-117969000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:117955800-117957000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr9:117955800-117957400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:117955800-117960200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:117956600-117957000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr9:117956600-117957000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:117956600-117957000	Enhancers	NH-A	brain
25	chr9:117956600-117958400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:117956600-117959400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr9:117956800-117957000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:117956800-117957000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:117956800-117957200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:117956800-117957400	ZNF genes & repeats	Fetal Lung	lung
31	chr9:117956800-117959000	Weak transcription	Fetal Muscle Leg	muscle
32	chr9:117956800-117960000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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