Variant report

Variant	rs1018847
Chromosome Location	chr9:108335214-108335215
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	chr9:108330989..108333120-chr9:108334347..108336541,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10491808	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12115847	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17250623	1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs17251166	0.88[EUR][1000 genomes]
rs17308339	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17309137	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17309319	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17309806	0.94[EUR][1000 genomes]
rs2068267	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2771028	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2771037	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2771039	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2771044	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2771045	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2812298	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2812299	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2812300	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2812301	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2812302	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2812304	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2812306	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2812309	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2812311	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2812312	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34787999	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41277785	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4742649	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4742651	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742653	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742654	0.88[EUR][1000 genomes]
rs4742946	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4742949	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4742950	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4742952	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742953	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742954	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4742955	0.91[EUR][1000 genomes]
rs4742956	0.94[EUR][1000 genomes]
rs57432946	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57597571	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59474306	0.89[EUR][1000 genomes]
rs60126815	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62575093	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62575095	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62575101	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62575102	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62575104	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62575105	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62575106	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62575112	0.84[EUR][1000 genomes]
rs62575114	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62575144	0.93[EUR][1000 genomes]
rs62575145	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7024265	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7035783	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7037972	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7851777	0.90[EUR][1000 genomes]
rs7872377	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9408799	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9409062	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049133	chr9:108292302-108356068	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1018847	FSD1L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108321200-108335600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:108321600-108336000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:108321600-108336800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:108321600-108336800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr9:108321600-108338000	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:108321600-108353600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:108321600-108354000	Weak transcription	Right Ventricle	heart
8	chr9:108321600-108360200	Weak transcription	HSMM	muscle
9	chr9:108321600-108397200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:108324800-108353800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr9:108325400-108337800	Weak transcription	Dnd41	blood
12	chr9:108325400-108339200	Weak transcription	Fetal Brain Male	brain
13	chr9:108325400-108357200	Weak transcription	A549	lung
14	chr9:108325600-108336600	Weak transcription	Fetal Lung	lung
15	chr9:108325600-108353200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr9:108325600-108353200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr9:108325600-108353800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:108325800-108353800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:108326000-108338200	Weak transcription	Ovary	ovary
20	chr9:108328000-108372800	Weak transcription	NHEK	skin
21	chr9:108330800-108366200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr9:108331000-108337400	Weak transcription	Adipose Nuclei	Adipose
23	chr9:108331200-108340000	Weak transcription	NH-A	brain
24	chr9:108332800-108337200	Weak transcription	Osteobl	bone
25	chr9:108333200-108337800	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:108333200-108338200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr9:108333200-108400400	Weak transcription	HMEC	breast
28	chr9:108333400-108335400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr9:108333400-108336800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:108333400-108352600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:108333400-108352600	Weak transcription	Fetal Kidney	kidney
32	chr9:108333600-108337600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:108333800-108335800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr9:108334000-108335600	Strong transcription	Left Ventricle	heart
35	chr9:108334000-108337200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr9:108334200-108368200	Weak transcription	Gastric	stomach
37	chr9:108334400-108336800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr9:108334600-108335400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:108334600-108335400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr9:108334600-108335400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr9:108334600-108337800	Weak transcription	Fetal Intestine Large	intestine
42	chr9:108334600-108338400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:108334800-108335800	ZNF genes & repeats	Brain Germinal Matrix	brain
44	chr9:108334800-108337400	Weak transcription	Brain Anterior Caudate	brain
45	chr9:108334800-108353000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr9:108335000-108335600	Strong transcription	Fetal Muscle Leg	muscle
47	chr9:108335000-108336000	Weak transcription	Primary T cells from cord blood	blood
48	chr9:108335000-108336000	Weak transcription	Fetal Brain Female	brain
49	chr9:108335000-108336600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:108335000-108336800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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