Variant report

Variant	rs2759382
Chromosome Location	chr6:163905372-163905373
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163835241..163837515-chr6:163904579..163906300,2	K562	blood:
2	chr6:163896776..163899468-chr6:163904713..163906625,2	K562	blood:
3	chr6:163887956..163890806-chr6:163903233..163905754,2	K562	blood:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1016501	0.88[EUR][1000 genomes]
rs1016502	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1040514	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1234603	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1234976	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1238371	0.85[EUR][1000 genomes]
rs1614795	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1619076	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1619863	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1737601	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1737603	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1737604	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1737606	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1737609	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1737611	0.88[EUR][1000 genomes]
rs1744924	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1744925	0.96[EUR][1000 genomes]
rs1744926	0.85[EUR][1000 genomes]
rs1744927	0.85[EUR][1000 genomes]
rs1744928	0.88[EUR][1000 genomes]
rs1744933	0.86[EUR][1000 genomes]
rs2038146	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2038147	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2038148	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2057003	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2092406	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2092407	0.98[EUR][1000 genomes]
rs2103671	0.98[EUR][1000 genomes]
rs2179523	0.85[EUR][1000 genomes]
rs2179524	0.85[EUR][1000 genomes]
rs2321700	0.87[EUR][1000 genomes]
rs2321702	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2745364	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2757582	0.81[EUR][1000 genomes]
rs2757583	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2757586	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2757587	0.96[EUR][1000 genomes]
rs2757589	0.82[EUR][1000 genomes]
rs2759381	0.88[EUR][1000 genomes]
rs2759383	0.85[EUR][1000 genomes]
rs2759384	0.85[EUR][1000 genomes]
rs2759387	0.82[EUR][1000 genomes]
rs2759389	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2759393	0.96[EUR][1000 genomes]
rs2759395	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2874602	0.98[EUR][1000 genomes]
rs4708997	0.83[EUR][1000 genomes]
rs6455900	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6455901	0.84[EUR][1000 genomes]
rs6455902	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6455903	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6455904	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6905852	0.97[EUR][1000 genomes]
rs6906008	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6909364	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6913113	0.97[EUR][1000 genomes]
rs6914387	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6915247	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6924130	0.86[EUR][1000 genomes]
rs6926584	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6927417	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6931049	0.93[EUR][1000 genomes]
rs721190	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs721191	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7749189	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7751784	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7761088	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7768051	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7769145	0.94[EUR][1000 genomes]
rs7775850	0.85[EUR][1000 genomes]
rs783138	0.85[EUR][1000 genomes]
rs809155	0.85[EUR][1000 genomes]
rs814143	0.84[EUR][1000 genomes]
rs9295222	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9295223	0.83[EUR][1000 genomes]
rs9347754	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9347755	0.85[EUR][1000 genomes]
rs9347756	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9347759	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9356117	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9356120	0.81[EUR][1000 genomes]
rs9365572	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9365573	0.85[EUR][1000 genomes]
rs9365574	0.94[EUR][1000 genomes]
rs9456866	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9456869	0.92[AMR][1000 genomes];0.94[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	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	esv1797109	chr6:163834147-163908115	Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv523664	chr6:163858237-163907885	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2759382	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163878800-163910200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:163880600-163906600	Weak transcription	Gastric	stomach
3	chr6:163881800-163910800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:163882000-163906600	Weak transcription	Thymus	Thymus
5	chr6:163883000-163906800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr6:163888400-163908200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr6:163890000-163906200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:163890800-163911400	Weak transcription	Osteobl	bone
9	chr6:163891400-163906400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:163891400-163910200	Weak transcription	HUVEC	blood vessel
11	chr6:163892200-163911400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:163892600-163906600	Weak transcription	NHEK	skin
13	chr6:163892600-163910400	Weak transcription	HMEC	breast
14	chr6:163893000-163912800	Weak transcription	Fetal Brain Male	brain
15	chr6:163893400-163912000	Weak transcription	Fetal Lung	lung
16	chr6:163893600-163906200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:163893600-163906200	Weak transcription	A549	lung
18	chr6:163893600-163910200	Weak transcription	HSMMtube	muscle
19	chr6:163896000-163906400	Weak transcription	Aorta	Aorta
20	chr6:163896600-163910800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:163897600-163905800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:163898000-163907800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:163898200-163906600	Weak transcription	Spleen	Spleen
24	chr6:163898400-163906400	Weak transcription	Ovary	ovary
25	chr6:163898400-163908200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr6:163898400-163909000	Weak transcription	Fetal Brain Female	brain
27	chr6:163898400-163911600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:163898400-163926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:163898600-163907800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr6:163898800-163907200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr6:163898800-163908000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr6:163899200-163910200	Weak transcription	Hela-S3	cervix
33	chr6:163899600-163910400	Weak transcription	NHLF	lung
34	chr6:163899800-163911000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:163899800-163911600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:163900000-163905400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr6:163900000-163908000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:163900800-163906000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr6:163901000-163906400	Weak transcription	Colon Smooth Muscle	Colon
40	chr6:163901000-163910400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:163901200-163906600	Weak transcription	Placenta	Placenta
42	chr6:163901200-163907800	Weak transcription	Brain Germinal Matrix	brain
43	chr6:163901200-163908200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:163901400-163906400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr6:163901400-163906400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr6:163901400-163907000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:163901400-163908600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr6:163901600-163910200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr6:163901600-163910200	Weak transcription	NH-A	brain
50	chr6:163901600-163910400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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