Variant report

Variant	rs2812311
Chromosome Location	chr9:108246084-108246085
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:108245164..108247258-chr9:108249628..108251228,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1018847	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10491808	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12115847	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17250623	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs17251166	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs17308339	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17309137	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17309319	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17309806	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2068267	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2771028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2771037	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2771039	1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2771044	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2771045	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2812298	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2812299	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2812300	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2812301	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2812302	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2812304	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2812306	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2812309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2812312	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34787999	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41277785	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4742649	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4742651	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4742653	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4742654	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs4742946	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742949	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4742950	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4742952	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4742953	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4742954	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4742955	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs4742956	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs57432946	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57597571	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59474306	0.85[EUR][1000 genomes]
rs60126815	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62575093	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62575095	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62575101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62575102	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62575104	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62575105	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62575106	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62575112	0.83[EUR][1000 genomes]
rs62575114	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62575144	0.88[EUR][1000 genomes]
rs62575145	0.90[EUR][1000 genomes]
rs7024265	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7035783	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7037972	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7851777	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs7872377	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9408799	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9409062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1053973	chr9:108199177-108300186	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv615115	chr9:108205262-108298183	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv893692	chr9:108218852-108320988	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
5	nsv1050141	chr9:108219667-108317424	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2812311	FSD1L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108211000-108248000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:108214600-108309800	Weak transcription	HUVEC	blood vessel
3	chr9:108220400-108252600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr9:108221000-108257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:108221000-108257200	Weak transcription	Fetal Stomach	stomach
6	chr9:108221000-108266000	Weak transcription	NHEK	skin
7	chr9:108221000-108277200	Weak transcription	Left Ventricle	heart
8	chr9:108222200-108259000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:108222200-108277000	Weak transcription	Ovary	ovary
10	chr9:108222400-108259000	Weak transcription	HSMMtube	muscle
11	chr9:108222600-108311400	Weak transcription	Fetal Heart	heart
12	chr9:108223200-108252600	Weak transcription	K562	blood
13	chr9:108223600-108255200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr9:108225000-108249200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:108227400-108271600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:108227600-108278400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:108228000-108258800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr9:108228200-108250200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:108228400-108252400	Weak transcription	Fetal Intestine Large	intestine
20	chr9:108228400-108257600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:108231400-108250200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr9:108231400-108257000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:108231600-108249800	Weak transcription	NHLF	lung
24	chr9:108231800-108247000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr9:108231800-108254400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr9:108231800-108296800	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr9:108232000-108252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr9:108232200-108246800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:108232400-108248400	Weak transcription	Primary B cells from cord blood	blood
30	chr9:108232400-108249400	Weak transcription	HMEC	breast
31	chr9:108232400-108249800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr9:108232600-108268800	Weak transcription	Fetal Brain Female	brain
33	chr9:108233000-108255000	Weak transcription	Dnd41	blood
34	chr9:108233400-108253000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr9:108233400-108253000	Weak transcription	Hela-S3	cervix
36	chr9:108233600-108246600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:108233600-108247000	Weak transcription	NH-A	brain
38	chr9:108233600-108247400	Weak transcription	Osteobl	bone
39	chr9:108233600-108250200	Weak transcription	A549	lung
40	chr9:108233600-108250400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:108233600-108269200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:108233600-108272000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:108233600-108272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:108233600-108277000	Weak transcription	Adipose Nuclei	Adipose
45	chr9:108233800-108249600	Weak transcription	Fetal Muscle Leg	muscle
46	chr9:108234800-108247000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr9:108235000-108247400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:108235400-108250200	Weak transcription	HSMM	muscle
49	chr9:108235600-108247400	Weak transcription	HepG2	liver
50	chr9:108235800-108249000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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