Variant report

Variant	rs2784867
Chromosome Location	chr6:163840529-163840530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr6:163840132-163840587	GM12878	blood:	n/a	chr6:163840474-163840488
2	TAL1	chr6:163840226-163841013	K562	blood:	n/a	n/a
3	TBL1XR1	chr6:163839505-163840983	K562	blood:	n/a	n/a
4	IRF1	chr6:163839808-163842261	K562	blood:	n/a	chr6:163841242-163841253 chr6:163840120-163840134 chr6:163841032-163841046 chr6:163840123-163840136 chr6:163841027-163841047 chr6:163841031-163841045 chr6:163840282-163840292 chr6:163842105-163842118 chr6:163840433-163840449 chr6:163840123-163840134 chr6:163840124-163840134 chr6:163842103-163842117 chr6:163841033-163841046 chr6:163840278-163840292 chr6:163842107-163842121 chr6:163841029-163841046 chr6:163840124-163840138 chr6:163841033-163841047 chr6:163842107-163842117
5	ARID3A	chr6:163839394-163841682	K562	blood:	n/a	chr6:163840686-163840702
6	EP300	chr6:163840520-163840829	GM12878	blood:	n/a	n/a
7	STAT3	chr6:163840173-163841079	MCF10A-Er-Src	breast:	n/a	chr6:163841042-163841053 chr6:163841010-163841018 chr6:163841044-163841067 chr6:163841034-163841045 chr6:163841008-163841019
8	STAT3	chr6:163840214-163840628	MCF10A-Er-Src	breast:	n/a	n/a
9	IRF1	chr6:163839848-163841224	K562	blood:	n/a	chr6:163840120-163840134 chr6:163841032-163841046 chr6:163840123-163840136 chr6:163841027-163841047 chr6:163841031-163841045 chr6:163840282-163840292 chr6:163840433-163840449 chr6:163840123-163840134 chr6:163840124-163840134 chr6:163841033-163841046 chr6:163840278-163840292 chr6:163841029-163841046 chr6:163840124-163840138 chr6:163841033-163841047

No.	Distal block	Cell Line	Cell type
1	chr6:163838578..163840743-chr6:164003751..164005658,2	K562	blood:
2	chr6:163838995..163843341-chr6:163850269..163853237,5	K562	blood:
3	chr6:163840085..163841837-chr6:163858856..163861674,2	MCF-7	breast:
4	chr6:163836144..163840696-chr6:163983068..163987938,4	K562	blood:
5	chr6:163602182..163604039-chr6:163839596..163841553,2	MCF-7	breast:

Variant related genes	Relation type
QKI	TF binding region
ENSG00000112531	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1003528	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1016501	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1016502	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1040514	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1047944	0.88[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752044	1.00[ASN][1000 genomes]
rs12194023	1.00[ASN][1000 genomes]
rs1230321	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234603	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1234604	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1234976	1.00[ASN][1000 genomes]
rs1614795	1.00[ASN][1000 genomes]
rs1619076	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1619863	1.00[ASN][1000 genomes]
rs1629251	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737317	1.00[CHB][hapmap]
rs1737323	1.00[CHB][hapmap]
rs1737329	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737333	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737600	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737601	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737603	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737604	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737606	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737607	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737609	1.00[ASN][1000 genomes]
rs1737611	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1737612	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1744924	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744925	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744926	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744927	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1744928	1.00[ASN][1000 genomes]
rs1744933	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1745094	0.89[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764008	1.00[CHB][hapmap]
rs2038146	1.00[ASN][1000 genomes]
rs2038147	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2057003	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2092406	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2092407	1.00[ASN][1000 genomes]
rs2179523	1.00[ASN][1000 genomes]
rs2179524	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2321698	1.00[ASN][1000 genomes]
rs2321700	1.00[ASN][1000 genomes]
rs2321701	0.85[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2321702	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2484877	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744420	1.00[ASN][1000 genomes]
rs2744421	1.00[ASN][1000 genomes]
rs2745364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2745365	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757578	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2757579	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757581	1.00[CHB][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757582	1.00[ASN][1000 genomes]
rs2757583	1.00[ASN][1000 genomes]
rs2757586	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757587	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2757588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2757589	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759381	1.00[ASN][1000 genomes]
rs2759383	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759384	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759385	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759387	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759389	1.00[ASN][1000 genomes]
rs2759390	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759391	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759392	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759393	1.00[ASN][1000 genomes]
rs2759395	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2759398	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759399	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2784865	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2784873	1.00[ASN][1000 genomes]
rs2784874	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2874602	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4708996	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708997	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs5008180	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56721804	1.00[ASN][1000 genomes]
rs6455900	1.00[ASN][1000 genomes]
rs6455902	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6455903	1.00[ASN][1000 genomes]
rs6455904	1.00[ASN][1000 genomes]
rs6909364	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6913113	1.00[ASN][1000 genomes]
rs6914387	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6915247	1.00[ASN][1000 genomes]
rs6924130	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6926584	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6927417	1.00[ASN][1000 genomes]
rs6931049	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs721190	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs721191	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7746116	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749189	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7752945	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7761088	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7768051	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7769145	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7775850	1.00[ASN][1000 genomes]
rs7776279	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs783138	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs783140	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs803613	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs809155	1.00[ASN][1000 genomes]
rs813640	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs814143	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9295222	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9295223	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9295224	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347754	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347755	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347756	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9347759	1.00[ASN][1000 genomes]
rs9347763	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9355427	1.00[CHB][hapmap]
rs9356117	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9356119	1.00[CHB][hapmap]
rs9356120	1.00[ASN][1000 genomes]
rs9356121	1.00[ASN][1000 genomes]
rs9365572	1.00[ASN][1000 genomes]
rs9365573	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9365574	1.00[ASN][1000 genomes]
rs9365577	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9456866	1.00[ASN][1000 genomes]
rs9456869	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2784867	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163832600-163841400	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr6:163833000-163843400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr6:163833200-163841000	Active TSS	Fetal Muscle Leg	muscle
4	chr6:163833200-163842000	Active TSS	HSMMtube	muscle
5	chr6:163833400-163840600	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr6:163833400-163841400	Active TSS	Stomach Smooth Muscle	stomach
7	chr6:163833400-163841400	Active TSS	NHLF	lung
8	chr6:163833400-163843600	Active TSS	Right Ventricle	heart
9	chr6:163833600-163841400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:163833600-163841400	Active TSS	HSMM	muscle
11	chr6:163833600-163842400	Active TSS	Psoas Muscle	Psoas
12	chr6:163833600-163843000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:163833800-163840800	Active TSS	K562	blood
14	chr6:163833800-163841600	Active TSS	Ovary	ovary
15	chr6:163834000-163840800	Active TSS	GM12878-XiMat	blood
16	chr6:163834200-163841000	Active TSS	HMEC	breast
17	chr6:163834200-163841400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr6:163835000-163841600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:163836200-163840800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr6:163836200-163840800	Active TSS	Fetal Heart	heart
21	chr6:163836200-163841400	Active TSS	Brain Anterior Caudate	brain
22	chr6:163836200-163841400	Active TSS	Brain Substantia Nigra	brain
23	chr6:163836200-163843400	Active TSS	Brain Angular Gyrus	brain
24	chr6:163836800-163841400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:163837000-163840600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:163837000-163841400	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr6:163837000-163843400	Active TSS	Right Atrium	heart
28	chr6:163837400-163857200	Weak transcription	Spleen	Spleen
29	chr6:163837800-163840800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:163837800-163840800	Weak transcription	Stomach Mucosa	stomach
31	chr6:163837800-163842000	Active TSS	Brain Cingulate Gyrus	brain
32	chr6:163837800-163842200	Active TSS	Brain Hippocampus Middle	brain
33	chr6:163837800-163843400	Weak transcription	Gastric	stomach
34	chr6:163837800-163851000	Weak transcription	Small Intestine	intestine
35	chr6:163838000-163840600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:163838000-163840600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:163838000-163841000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:163838000-163841400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:163838000-163841600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr6:163838000-163841800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr6:163838000-163841800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr6:163838000-163842000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr6:163838000-163843400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:163838000-163843400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr6:163838000-163843600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr6:163838000-163843600	Weak transcription	Esophagus	oesophagus
47	chr6:163838000-163843800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr6:163838000-163847600	Weak transcription	Pancreas	Pancrea
49	chr6:163838000-163851600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:163838000-163860600	Weak transcription	Primary B cells from peripheral blood	blood

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