Variant report

Variant	rs2092407
Chromosome Location	chr6:163924579-163924580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163923513..163926538-chr6:163926650..163930288,4	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs1003528	1.00[ASN][1000 genomes]
rs1016501	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1016502	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040514	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[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	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234604	1.00[ASN][1000 genomes]
rs1234976	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1238371	0.86[EUR][1000 genomes]
rs1614795	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619076	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619863	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[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	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737603	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737604	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737606	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737607	1.00[ASN][1000 genomes]
rs1737609	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737611	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737612	1.00[ASN][1000 genomes]
rs1744924	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744925	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744926	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744927	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744928	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744933	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1745094	1.00[ASN][1000 genomes]
rs2038146	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038147	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038148	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2057003	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092406	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103671	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2179523	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179524	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321698	1.00[ASN][1000 genomes]
rs2321700	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321701	1.00[ASN][1000 genomes]
rs2321702	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[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	0.85[AMR][1000 genomes];0.99[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	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757583	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757586	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757587	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757589	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759381	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759382	0.98[EUR][1000 genomes]
rs2759383	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759384	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759385	1.00[ASN][1000 genomes]
rs2759387	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759388	1.00[ASN][1000 genomes]
rs2759389	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759390	1.00[ASN][1000 genomes]
rs2759391	1.00[ASN][1000 genomes]
rs2759392	1.00[ASN][1000 genomes]
rs2759393	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759395	0.81[AMR][1000 genomes];0.96[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	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708996	1.00[ASN][1000 genomes]
rs4708997	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56721804	1.00[ASN][1000 genomes]
rs6455900	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455901	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6455902	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455903	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455904	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905852	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6906008	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6909364	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913113	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914387	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915247	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924130	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926584	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927417	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931049	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721190	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721191	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746116	1.00[ASN][1000 genomes]
rs7749189	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751784	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7752945	1.00[ASN][1000 genomes]
rs7761088	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768051	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769145	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775850	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776279	1.00[ASN][1000 genomes]
rs783136	1.00[ASN][1000 genomes]
rs783138	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783140	1.00[ASN][1000 genomes]
rs803613	1.00[ASN][1000 genomes]
rs809155	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs813640	1.00[ASN][1000 genomes]
rs814143	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295222	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295223	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295224	1.00[ASN][1000 genomes]
rs9347754	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347755	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347756	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347759	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347763	1.00[ASN][1000 genomes]
rs9356117	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356120	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356121	1.00[ASN][1000 genomes]
rs9365572	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365573	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365574	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365577	1.00[ASN][1000 genomes]
rs9456866	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9456869	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	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	nsv524205	chr6:163919517-163938331	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv2763608	chr6:163920117-163943429	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2092407	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163898400-163926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:163903600-163926000	Weak transcription	Lung	lung
3	chr6:163907200-163925000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:163907200-163926000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:163911200-163926000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:163911200-163926200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:163911600-163928000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:163911800-163934800	Weak transcription	Pancreas	Pancrea
9	chr6:163912400-163926200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:163912600-163925200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:163913000-163928000	Weak transcription	HUVEC	blood vessel
12	chr6:163915600-163925400	Weak transcription	A549	lung
13	chr6:163915600-163926000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:163915600-163928000	Weak transcription	Osteobl	bone
15	chr6:163915800-163927400	Weak transcription	HSMM	muscle
16	chr6:163916000-163929200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:163916200-163928200	Enhancers	Brain Substantia Nigra	brain
18	chr6:163917000-163928000	Weak transcription	Liver	Liver
19	chr6:163917600-163925000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:163917800-163925000	Weak transcription	Right Atrium	heart
21	chr6:163919800-163925800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:163919800-163926400	Enhancers	Brain Anterior Caudate	brain
23	chr6:163920200-163934800	Weak transcription	Ovary	ovary
24	chr6:163921200-163926400	Weak transcription	Esophagus	oesophagus
25	chr6:163921400-163925600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:163921400-163925600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:163921400-163928000	Weak transcription	NHLF	lung
28	chr6:163922200-163928000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:163922400-163926600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:163922600-163926000	Weak transcription	Fetal Stomach	stomach
31	chr6:163922800-163925000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:163922800-163925200	Weak transcription	Primary B cells from cord blood	blood
33	chr6:163922800-163925800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:163922800-163926400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr6:163922800-163927000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:163922800-163928000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr6:163922800-163928400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr6:163923000-163925200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr6:163923000-163927400	Weak transcription	Fetal Lung	lung
40	chr6:163923000-163927800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:163923000-163928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:163923200-163924600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr6:163923200-163925200	Weak transcription	Adipose Nuclei	Adipose
44	chr6:163923400-163926000	Weak transcription	Psoas Muscle	Psoas
45	chr6:163923800-163925600	Enhancers	Brain Cingulate Gyrus	brain
46	chr6:163923800-163926000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:163923800-163929800	Enhancers	Brain Hippocampus Middle	brain
48	chr6:163924000-163925600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr6:163924000-163926000	Weak transcription	Right Ventricle	heart
50	chr6:163924200-163925400	Weak transcription	Fetal Heart	heart

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