Variant report

Variant	rs9347759
Chromosome Location	chr6:163953202-163953203
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163952879..163955434-chr6:163961662..163963741,2	K562	blood:
2	chr6:163947867..163950430-chr6:163952220..163954736,3	K562	blood:
3	chr6:163832850..163838270-chr6:163950827..163956360,5	K562	blood:
4	chr6:163951535..163954078-chr6:163954622..163957067,3	K562	blood:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction
ENSG00000270419	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1003528	1.00[ASN][1000 genomes]
rs1016501	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1016502	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040514	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047944	1.00[ASN][1000 genomes]
rs11752044	1.00[ASN][1000 genomes]
rs12194023	1.00[ASN][1000 genomes]
rs1230321	1.00[ASN][1000 genomes]
rs1234603	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234604	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1234976	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1238371	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1614795	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619076	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619863	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629251	1.00[ASN][1000 genomes]
rs1737329	1.00[ASN][1000 genomes]
rs1737333	1.00[ASN][1000 genomes]
rs1737600	1.00[ASN][1000 genomes]
rs1737601	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737603	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737604	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737606	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737607	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1737609	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737611	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737612	1.00[ASN][1000 genomes]
rs1744924	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744925	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744926	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744927	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744928	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744933	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1745094	1.00[ASN][1000 genomes]
rs2038146	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038147	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038148	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2057003	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092407	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103671	0.96[EUR][1000 genomes]
rs2179523	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179524	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321698	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2321700	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321701	1.00[ASN][1000 genomes]
rs2321702	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2484877	1.00[ASN][1000 genomes]
rs2744420	1.00[ASN][1000 genomes]
rs2744421	1.00[ASN][1000 genomes]
rs2745364	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2745365	1.00[ASN][1000 genomes]
rs2757579	1.00[ASN][1000 genomes]
rs2757580	1.00[ASN][1000 genomes]
rs2757581	1.00[ASN][1000 genomes]
rs2757582	1.00[ASN][1000 genomes]
rs2757583	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757586	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757587	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757589	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759381	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759382	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2759383	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759384	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759385	1.00[ASN][1000 genomes]
rs2759387	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759388	1.00[ASN][1000 genomes]
rs2759389	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759390	1.00[ASN][1000 genomes]
rs2759391	1.00[ASN][1000 genomes]
rs2759392	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2759393	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759395	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759398	1.00[ASN][1000 genomes]
rs2759399	1.00[ASN][1000 genomes]
rs2784865	1.00[ASN][1000 genomes]
rs2784867	1.00[ASN][1000 genomes]
rs2784873	1.00[ASN][1000 genomes]
rs2874602	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708996	1.00[ASN][1000 genomes]
rs4708997	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455900	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455901	0.84[EUR][1000 genomes]
rs6455902	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455903	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455904	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905852	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6906008	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6909364	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913113	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914387	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915247	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924130	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926584	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927417	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931049	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721190	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721191	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746116	1.00[ASN][1000 genomes]
rs7749189	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751784	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7752945	1.00[ASN][1000 genomes]
rs7761088	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768051	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769145	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775850	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776279	1.00[ASN][1000 genomes]
rs783136	1.00[ASN][1000 genomes]
rs783138	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783140	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs803613	1.00[ASN][1000 genomes]
rs809155	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs813640	1.00[ASN][1000 genomes]
rs814143	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295222	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295223	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295224	1.00[ASN][1000 genomes]
rs9347754	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347755	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347756	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347763	1.00[ASN][1000 genomes]
rs9356117	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356120	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356121	1.00[ASN][1000 genomes]
rs9365572	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365573	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365574	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365577	1.00[ASN][1000 genomes]
rs9456866	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9456869	0.96[AMR][1000 genomes];0.99[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	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
2	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
3	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
4	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
5	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
rs9347759	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
2	chr6:163929800-163957000	Weak transcription	Primary B cells from cord blood	blood
3	chr6:163935200-163958800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr6:163935200-163959400	Weak transcription	Lung	lung
5	chr6:163936800-163953600	Enhancers	Brain Hippocampus Middle	brain
6	chr6:163936800-163957400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:163939800-163956200	Enhancers	Brain Anterior Caudate	brain
8	chr6:163940200-163983000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:163944200-163953600	Weak transcription	GM12878-XiMat	blood
10	chr6:163944200-163957400	Enhancers	Brain Substantia Nigra	brain
11	chr6:163945000-163957400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:163945800-163955800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:163946200-163955800	Enhancers	Liver	Liver
14	chr6:163947200-163953600	Enhancers	Adipose Nuclei	Adipose
15	chr6:163947800-163953600	Enhancers	HSMMtube	muscle
16	chr6:163948400-163958400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:163948600-163959000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:163948600-163964600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:163949000-163958000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:163949200-163955800	Enhancers	Brain Germinal Matrix	brain
21	chr6:163949400-163959200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:163949600-163953400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:163949600-163975200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:163949600-163992000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:163949600-163995400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:163950000-163954400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:163950200-163954200	Enhancers	Fetal Muscle Leg	muscle
28	chr6:163950600-163954000	Enhancers	Psoas Muscle	Psoas
29	chr6:163950800-163956200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:163951000-163978800	Weak transcription	Fetal Kidney	kidney
31	chr6:163951200-163953600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:163951200-163953600	Weak transcription	HUVEC	blood vessel
33	chr6:163951200-163954600	Enhancers	HepG2	liver
34	chr6:163951200-163956000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:163951200-163956000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:163951200-163956000	Enhancers	NHLF	lung
37	chr6:163951200-163993200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:163951400-163954600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:163951400-163956200	Enhancers	HSMM	muscle
40	chr6:163951600-163953400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:163951600-163953600	Weak transcription	Stomach Mucosa	stomach
42	chr6:163951600-163953800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:163951600-163954000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr6:163951600-163985800	Weak transcription	Hela-S3	cervix
45	chr6:163951800-163953600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:163951800-163956200	Enhancers	NHDF-Ad	bronchial
47	chr6:163951800-163973400	Weak transcription	Fetal Stomach	stomach
48	chr6:163952000-163953600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr6:163952000-163956000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:163952000-163956200	Enhancers	Muscle Satellite Cultured Cells	--

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