Variant report

Variant	rs7040712
Chromosome Location	chr9:14994221-14994222
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10114147	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10756632	0.84[EUR][1000 genomes]
rs10756640	0.87[ASN][1000 genomes]
rs10810307	0.84[EUR][1000 genomes]
rs10810308	0.84[EUR][1000 genomes]
rs10961811	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10961817	0.84[EUR][1000 genomes]
rs10961819	0.92[CEU][hapmap];0.85[GIH][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs10961820	0.86[EUR][1000 genomes]
rs12340301	0.84[EUR][1000 genomes]
rs1412720	0.82[AMR][1000 genomes]
rs1412724	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1464607	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1464608	0.81[AMR][1000 genomes]
rs1855140	0.86[EUR][1000 genomes]
rs1880012	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1880013	0.86[EUR][1000 genomes]
rs2140322	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2140326	0.86[EUR][1000 genomes]
rs4008009	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4382569	0.81[AMR][1000 genomes]
rs4535838	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4548277	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4553007	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs6415721	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6474876	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6474878	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7018678	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7020107	0.84[EUR][1000 genomes]
rs7026072	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7027560	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7028104	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs7028702	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7029010	0.96[ASN][1000 genomes]
rs7030516	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7030620	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7037967	0.96[CEU][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7044666	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7048248	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7048509	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs7848522	0.83[EUR][1000 genomes]
rs7855093	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7857763	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7865132	0.82[EUR][1000 genomes]
rs9298710	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9969815	0.86[EUR][1000 genomes]

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	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv613647	chr9:14852141-15016475	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv892620	chr9:14922877-15086021	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv892621	chr9:14928013-15043692	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2761503	chr9:14960217-15049343	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv892622	chr9:14960217-15055607	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7040712	C9orf150	cis	parietal	SCAN

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14991600-14994400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:14991800-14994400	Active TSS	NHDF-Ad	bronchial
3	chr9:14992000-14994400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr9:14992200-14994400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr9:14992200-14994800	Active TSS	Psoas Muscle	Psoas
6	chr9:14992200-14995000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:14992400-14994400	Enhancers	Small Intestine	intestine
8	chr9:14992400-14995000	Flanking Active TSS	Dnd41	blood
9	chr9:14992800-14994400	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr9:14992800-14994400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:14992800-14994400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr9:14993000-14994400	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr9:14993000-14994600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:14993000-14994800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr9:14993000-14994800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:14993200-14994600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr9:14993400-14994600	Flanking Active TSS	HUVEC	blood vessel
18	chr9:14993600-14994600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
19	chr9:14993800-14994400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr9:14993800-14994400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr9:14993800-14994400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr9:14993800-14994400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr9:14993800-14994400	Flanking Active TSS	Fetal Kidney	kidney
24	chr9:14993800-14994400	Flanking Active TSS	Fetal Lung	lung
25	chr9:14993800-14994600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr9:14993800-14994600	Enhancers	Placenta	Placenta
27	chr9:14993800-14994800	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr9:14993800-14994800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr9:14993800-15002400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr9:14994000-14994400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:14994000-14994400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr9:14994000-14994400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr9:14994000-14994400	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr9:14994000-14994400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:14994000-14994400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr9:14994000-14994400	Enhancers	Brain Angular Gyrus	brain
37	chr9:14994000-14994400	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr9:14994000-14994400	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr9:14994000-14994400	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr9:14994000-14994400	Enhancers	Fetal Heart	heart
41	chr9:14994000-14994400	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr9:14994000-14994400	Enhancers	Right Atrium	heart
43	chr9:14994000-14994600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:14994000-14994600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:14994000-14994600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr9:14994000-14994600	Enhancers	Fetal Stomach	stomach
47	chr9:14994000-14994800	Enhancers	HSMMtube	muscle
48	chr9:14994000-14995000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:14994000-14995000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr9:14994000-14995000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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