Variant report

Variant	rs9644995
Chromosome Location	chr9:73094745-73094746
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:73030761..73038680-chr9:73091043..73101036,27	MCF-7	breast:
2	chr9:73026617..73037908-chr9:73091853..73102499,30	K562	blood:
3	chr9:73023348..73025257-chr9:73094505..73097293,2	K562	blood:
4	chr9:73030963..73039331-chr9:73089885..73101071,36	MCF-7	breast:
5	chr9:73025336..73030126-chr9:73090773..73099381,13	MCF-7	breast:
6	chr9:73094287..73096539-chr9:73098438..73101365,3	K562	blood:
7	chr9:73094687..73096290-chr9:73106130..73108014,2	MCF-7	breast:
8	chr9:73093971..73096517-chr9:73098061..73099840,2	MCF-7	breast:
9	chr9:73033693..73034516-chr9:73094323..73094824,2	MCF-7	breast:
10	chr9:73025505..73030167-chr9:73091131..73097285,11	MCF-7	breast:
11	chr9:73032264..73037880-chr9:73093717..73104954,17	K562	blood:
12	chr9:73094287..73096782-chr9:73098912..73101911,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119138	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11142420	0.81[EUR][1000 genomes]
rs11142431	0.84[EUR][1000 genomes]
rs11142434	0.84[EUR][1000 genomes]
rs11142435	0.83[EUR][1000 genomes]
rs11142441	0.87[EUR][1000 genomes]
rs11142443	0.87[EUR][1000 genomes]
rs11142451	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11142452	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11142453	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11142454	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11142462	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11142464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11142465	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11142467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12238429	0.87[EUR][1000 genomes]
rs13291393	0.83[EUR][1000 genomes]
rs13298975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556739	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34775197	0.81[EUR][1000 genomes]
rs4744598	0.87[EUR][1000 genomes]
rs4745011	0.87[EUR][1000 genomes]
rs4745012	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv428219	chr9:73006269-73192535	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv831616	chr9:73077855-73220928	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9644995	C9orf85	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73086600-73097400	Enhancers	Left Ventricle	heart
2	chr9:73086800-73095800	Enhancers	Pancreas	Pancrea
3	chr9:73087200-73097000	Enhancers	Right Atrium	heart
4	chr9:73088600-73107200	Weak transcription	Gastric	stomach
5	chr9:73091800-73094800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:73091800-73095200	Enhancers	Psoas Muscle	Psoas
7	chr9:73092200-73095000	Enhancers	Colon Smooth Muscle	Colon
8	chr9:73092600-73096800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:73092800-73094800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr9:73092800-73094800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:73092800-73094800	Enhancers	Right Ventricle	heart
12	chr9:73092800-73095000	Enhancers	Brain Anterior Caudate	brain
13	chr9:73092800-73095200	Enhancers	Adipose Nuclei	Adipose
14	chr9:73092800-73095400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:73093000-73095200	Enhancers	Brain Hippocampus Middle	brain
16	chr9:73093000-73095400	Enhancers	Fetal Lung	lung
17	chr9:73093000-73095600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:73093000-73096800	Enhancers	Stomach Mucosa	stomach
19	chr9:73093000-73097600	Enhancers	Ovary	ovary
20	chr9:73093200-73095600	Enhancers	Brain Cingulate Gyrus	brain
21	chr9:73093400-73095200	Weak transcription	Fetal Heart	heart
22	chr9:73093400-73095200	Enhancers	Lung	lung
23	chr9:73093400-73095400	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr9:73093600-73100800	Enhancers	Brain Substantia Nigra	brain
25	chr9:73093800-73094800	Enhancers	Duodenum Mucosa	Duodenum
26	chr9:73093800-73094800	Enhancers	HSMM	muscle
27	chr9:73093800-73095000	Enhancers	Brain Angular Gyrus	brain
28	chr9:73093800-73095200	Enhancers	Esophagus	oesophagus
29	chr9:73093800-73095400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr9:73093800-73095400	Bivalent Enhancer	HepG2	liver
31	chr9:73093800-73095400	Enhancers	NHDF-Ad	bronchial
32	chr9:73093800-73095800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:73093800-73095800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr9:73093800-73096000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr9:73093800-73096000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr9:73093800-73096200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:73093800-73096200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:73093800-73096200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr9:73093800-73096200	Enhancers	HMEC	breast
40	chr9:73093800-73096800	Enhancers	Small Intestine	intestine
41	chr9:73093800-73096800	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr9:73093800-73097000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr9:73093800-73097000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr9:73094000-73094800	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr9:73094000-73095400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:73094000-73095400	Enhancers	HSMMtube	muscle
47	chr9:73094000-73095800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:73094000-73095800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:73094000-73096000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr9:73094000-73096200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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