Variant report

Variant	rs9364691
Chromosome Location	chr6:163947424-163947425
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	chr6:163943184..163945151-chr6:163945835..163948340,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1047935	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11962088	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs13199835	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13202282	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16895015	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs1737328	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17591955	0.89[CHB][hapmap];0.91[JPT][hapmap]
rs1764011	0.81[JPT][hapmap]
rs2143358	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2294698	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2294703	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2294706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2294709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35442073	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3756879	0.84[CHB][hapmap];0.80[ASN][1000 genomes]
rs3763197	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs41268571	0.81[ASN][1000 genomes]
rs4263561	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs4708995	0.81[AFR][1000 genomes]
rs4709716	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4709717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4709718	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4709720	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4709722	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6455897	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs6931903	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs6939218	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs715020	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs724826	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7758706	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7772756	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs9346960	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9347760	0.96[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9364688	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9364689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9364692	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1019551	chr6:163842358-163965216	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1017495	chr6:163856399-163981095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1027863	chr6:163934616-163965216	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9364691	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
2	chr6:163927200-163951600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:163928200-163951600	Weak transcription	Spleen	Spleen
4	chr6:163929600-163950800	Weak transcription	Fetal Lung	lung
5	chr6:163929600-163951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:163929800-163957000	Weak transcription	Primary B cells from cord blood	blood
7	chr6:163930600-163950200	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:163934200-163949200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:163935200-163950600	Weak transcription	Ovary	ovary
10	chr6:163935200-163952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:163935200-163958800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:163935200-163959400	Weak transcription	Lung	lung
13	chr6:163935400-163951600	Weak transcription	Pancreas	Pancrea
14	chr6:163936800-163953600	Enhancers	Brain Hippocampus Middle	brain
15	chr6:163936800-163957400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:163938200-163951000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr6:163939800-163956200	Enhancers	Brain Anterior Caudate	brain
18	chr6:163940200-163983000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr6:163940400-163947600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:163940400-163949000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr6:163940400-163950200	Weak transcription	Fetal Brain Female	brain
22	chr6:163941800-163949400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:163943200-163947800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr6:163943600-163951200	Weak transcription	HepG2	liver
25	chr6:163944000-163949400	Enhancers	Brain Cingulate Gyrus	brain
26	chr6:163944000-163950600	Weak transcription	Small Intestine	intestine
27	chr6:163944000-163952200	Weak transcription	Gastric	stomach
28	chr6:163944000-163952200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:163944200-163952200	Weak transcription	K562	blood
30	chr6:163944200-163953600	Weak transcription	GM12878-XiMat	blood
31	chr6:163944200-163957400	Enhancers	Brain Substantia Nigra	brain
32	chr6:163944600-163949200	Weak transcription	Brain Germinal Matrix	brain
33	chr6:163944600-163952400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:163945000-163947800	Weak transcription	HSMMtube	muscle
35	chr6:163945000-163949400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr6:163945000-163951800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr6:163945000-163957400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr6:163945200-163951600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr6:163945800-163955800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr6:163946000-163947800	Weak transcription	Brain Angular Gyrus	brain
41	chr6:163946000-163949400	Enhancers	Fetal Heart	heart
42	chr6:163946200-163947800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:163946200-163955800	Enhancers	Liver	Liver
44	chr6:163946400-163950600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr6:163946600-163947800	Enhancers	NHEK	skin
46	chr6:163946600-163948200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:163946600-163948400	Enhancers	A549	lung
48	chr6:163946600-163948600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:163946600-163949600	Enhancers	NHDF-Ad	bronchial
50	chr6:163946600-163950400	Enhancers	Muscle Satellite Cultured Cells	--

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