Variant report

Variant	rs1744928
Chromosome Location	chr6:163908388-163908389
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163906959..163909795-chr6:163909978..163912213,2	K562	blood:
2	chr6:163907164..163909341-chr6:163918489..163921263,2	K562	blood:
3	chr6:163906576..163909444-chr6:163912230..163915189,4	K562	blood:

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

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

rs_ID	r²[population]
rs1003528	1.00[ASN][1000 genomes]
rs1016501	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1016502	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1040514	0.89[AMR][1000 genomes];0.89[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	0.83[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1234603	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234604	1.00[ASN][1000 genomes]
rs1234976	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1614795	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619076	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619863	0.89[AMR][1000 genomes];0.90[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	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737603	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737604	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737606	0.82[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737607	1.00[ASN][1000 genomes]
rs1737609	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737611	0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737612	1.00[ASN][1000 genomes]
rs1744924	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744925	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744926	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744927	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744933	0.95[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1745094	1.00[ASN][1000 genomes]
rs2038146	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038147	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038148	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2057003	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092406	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092407	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103671	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2179523	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179524	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321698	1.00[ASN][1000 genomes]
rs2321700	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321701	1.00[ASN][1000 genomes]
rs2321702	0.89[AMR][1000 genomes];0.87[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	0.90[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	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757586	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757587	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757589	1.00[ASN][1000 genomes]
rs2759381	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759382	0.88[EUR][1000 genomes]
rs2759383	1.00[ASN][1000 genomes]
rs2759384	1.00[ASN][1000 genomes]
rs2759385	1.00[ASN][1000 genomes]
rs2759387	1.00[ASN][1000 genomes]
rs2759388	0.81[YRI][hapmap];1.00[ASN][1000 genomes]
rs2759389	0.89[AMR][1000 genomes];0.90[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	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759395	0.87[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	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708996	1.00[ASN][1000 genomes]
rs4708997	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5008180	0.81[AFR][1000 genomes]
rs56721804	1.00[ASN][1000 genomes]
rs6455900	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455901	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6455902	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455903	0.81[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6455904	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905852	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6906008	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6909364	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913113	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914387	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915247	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6924130	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926584	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927417	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931049	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721190	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs721191	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746116	1.00[ASN][1000 genomes]
rs7749189	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751784	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7752945	1.00[ASN][1000 genomes]
rs7761088	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768051	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769145	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775850	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7776279	1.00[ASN][1000 genomes]
rs783136	1.00[ASN][1000 genomes]
rs783138	1.00[ASN][1000 genomes]
rs783140	1.00[ASN][1000 genomes]
rs803613	1.00[ASN][1000 genomes]
rs809155	1.00[ASN][1000 genomes]
rs813640	1.00[ASN][1000 genomes]
rs814143	1.00[ASN][1000 genomes]
rs9295222	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295223	0.91[CEU][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295224	1.00[ASN][1000 genomes]
rs9347754	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347755	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347756	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347759	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347763	1.00[ASN][1000 genomes]
rs9356117	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356120	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9356121	1.00[ASN][1000 genomes]
rs9365572	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365573	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365574	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365577	1.00[ASN][1000 genomes]
rs9456866	0.85[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9456869	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1744928	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163878800-163910200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:163881800-163910800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:163890800-163911400	Weak transcription	Osteobl	bone
4	chr6:163891400-163910200	Weak transcription	HUVEC	blood vessel
5	chr6:163892200-163911400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr6:163892600-163910400	Weak transcription	HMEC	breast
7	chr6:163893000-163912800	Weak transcription	Fetal Brain Male	brain
8	chr6:163893400-163912000	Weak transcription	Fetal Lung	lung
9	chr6:163893600-163910200	Weak transcription	HSMMtube	muscle
10	chr6:163896600-163910800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:163898400-163909000	Weak transcription	Fetal Brain Female	brain
12	chr6:163898400-163911600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:163898400-163926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:163899200-163910200	Weak transcription	Hela-S3	cervix
15	chr6:163899600-163910400	Weak transcription	NHLF	lung
16	chr6:163899800-163911000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:163899800-163911600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:163901000-163910400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr6:163901400-163908600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:163901600-163910200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:163901600-163910200	Weak transcription	NH-A	brain
22	chr6:163901600-163910400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:163902200-163913600	Enhancers	Brain Anterior Caudate	brain
24	chr6:163902400-163908400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:163902600-163909400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:163902600-163921800	Weak transcription	HepG2	liver
27	chr6:163902800-163912200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr6:163903000-163909200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr6:163903000-163909200	Weak transcription	HSMM	muscle
30	chr6:163903000-163915000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:163903000-163924200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:163903200-163910600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:163903400-163910400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:163903600-163911400	Weak transcription	Fetal Thymus	thymus
35	chr6:163903600-163926000	Weak transcription	Lung	lung
36	chr6:163903800-163912200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:163904000-163908400	Weak transcription	Primary B cells from cord blood	blood
38	chr6:163904000-163917400	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:163904400-163910200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:163904400-163910200	Enhancers	Brain Hippocampus Middle	brain
41	chr6:163904800-163910400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:163904800-163910400	Weak transcription	NHDF-Ad	bronchial
43	chr6:163904800-163912200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:163905000-163918400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:163905200-163909400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:163905200-163910200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:163905200-163910400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr6:163905200-163910800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:163905200-163915400	Enhancers	Fetal Heart	heart
50	chr6:163905600-163909600	Enhancers	Brain Inferior Temporal Lobe	brain

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