Variant report

Variant	rs9368966
Chromosome Location	chr6:36825430-36825431
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:36763716..36766678-chr6:36824320..36826178,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1150784	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2116447	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293393	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2303993	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs236349	0.89[ASN][1000 genomes]
rs236352	0.98[ASN][1000 genomes]
rs3756905	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3778016	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3778017	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3846871	0.97[ASN][1000 genomes]
rs449840	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4594944	0.83[ASN][1000 genomes]
rs4714018	0.96[ASN][1000 genomes]
rs58214515	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs62406643	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6457963	0.86[ASN][1000 genomes]
rs6909988	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6910832	0.94[ASN][1000 genomes]
rs6914008	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6934844	0.96[ASN][1000 genomes]
rs8472	0.88[ASN][1000 genomes]
rs9366920	0.96[ASN][1000 genomes]
rs9380616	0.96[ASN][1000 genomes]
rs9380618	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380626	0.85[ASN][1000 genomes]
rs9470426	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[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	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv5262	chr6:36799329-36826210	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription 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 miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9368966	PPIL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36817000-36826200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:36817000-36841400	Weak transcription	Colonic Mucosa	Colon
3	chr6:36817200-36830200	Weak transcription	Fetal Lung	lung
4	chr6:36817200-36833400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:36817200-36841200	Weak transcription	Fetal Brain Male	brain
6	chr6:36817200-36842000	Weak transcription	Stomach Mucosa	stomach
7	chr6:36819000-36830000	Weak transcription	Fetal Kidney	kidney
8	chr6:36819000-36840400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr6:36819400-36834000	Strong transcription	Dnd41	blood
10	chr6:36819400-36841800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:36819600-36833400	Strong transcription	Primary T cells from cord blood	blood
12	chr6:36819800-36839800	Strong transcription	Fetal Thymus	thymus
13	chr6:36820000-36825800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr6:36820000-36826200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:36820200-36825800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr6:36820200-36827000	Strong transcription	Thymus	Thymus
17	chr6:36820400-36825600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr6:36820400-36825600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:36820400-36825600	Strong transcription	Hela-S3	cervix
20	chr6:36820400-36827000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr6:36820600-36826200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:36820600-36826800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:36821000-36841400	Weak transcription	Small Intestine	intestine
24	chr6:36821600-36826200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:36821600-36827000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:36821600-36827600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:36821600-36828600	Strong transcription	K562	blood
28	chr6:36821600-36830200	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:36821800-36825800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:36821800-36830600	Weak transcription	NHDF-Ad	bronchial
31	chr6:36821800-36839800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:36821800-36841400	Weak transcription	HSMMtube	muscle
33	chr6:36822000-36828600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr6:36822400-36826200	Weak transcription	Brain Anterior Caudate	brain
35	chr6:36822600-36826200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:36822800-36830400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr6:36823000-36825600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:36823000-36825800	Strong transcription	Lung	lung
39	chr6:36823000-36826200	Strong transcription	HepG2	liver
40	chr6:36823000-36827000	Strong transcription	GM12878-XiMat	blood
41	chr6:36823600-36826200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:36823600-36827000	Strong transcription	Fetal Intestine Small	intestine
43	chr6:36823600-36832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:36823600-36841400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr6:36823800-36829000	Weak transcription	Brain Germinal Matrix	brain
46	chr6:36823800-36830000	Weak transcription	Gastric	stomach
47	chr6:36823800-36831600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr6:36823800-36833600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:36824000-36826000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:36824000-36826200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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