Variant report

Variant	rs783137
Chromosome Location	chr6:163847852-163847853
allele	C/T
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	POLR2A	chr6:163847238-163848118	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:163846486..163849719-chr6:163934600..163936577,3	K562	blood:
2	chr6:163846244..163848845-chr6:163849876..163852594,2	MCF-7	breast:
3	chr6:163842546..163846148-chr6:163847006..163850145,4	K562	blood:
4	chr6:163832148..163835093-chr6:163846269..163848016,2	MCF-7	breast:

Variant related genes	Relation type
QKI	TF binding region
ENSG00000112531	Chromatin interaction
ENSG00000270419	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12210561	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1230320	0.82[ASW][hapmap];1.00[CEU][hapmap];0.89[GIH][hapmap];0.90[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1572434	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1614869	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737330	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1737331	1.00[CHB][hapmap]
rs1737610	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1744929	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764022	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1764023	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2259476	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2259477	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2475390	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2475877	0.87[EUR][1000 genomes]
rs2757573	1.00[CHB][hapmap]
rs2757575	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2757576	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2757584	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2757585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759386	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6939187	1.00[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73021476	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs783139	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs803612	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347747	0.87[EUR][1000 genomes]
rs9347752	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9347765	1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9347766	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9365575	1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9458843	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9458860	1.00[CHB][hapmap]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs783137	QKI	cis	Whole Blood	GTEx

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163837400-163857200	Weak transcription	Spleen	Spleen
2	chr6:163837800-163851000	Weak transcription	Small Intestine	intestine
3	chr6:163838000-163851600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:163838000-163860600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr6:163839800-163851600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:163840800-163865000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr6:163840800-163881400	Weak transcription	Fetal Stomach	stomach
8	chr6:163841600-163848000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:163841600-163848600	Weak transcription	HMEC	breast
10	chr6:163841600-163853200	Enhancers	Adipose Nuclei	Adipose
11	chr6:163841600-163858600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:163841600-163864400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:163841800-163848600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:163841800-163851000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:163842000-163848200	Weak transcription	GM12878-XiMat	blood
16	chr6:163842000-163850000	Weak transcription	HSMMtube	muscle
17	chr6:163842200-163851000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:163842400-163848000	Weak transcription	Fetal Lung	lung
19	chr6:163842400-163849800	Weak transcription	Primary T cells from cord blood	blood
20	chr6:163842600-163865200	Weak transcription	Fetal Kidney	kidney
21	chr6:163843200-163848600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:163843800-163856200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:163843800-163862600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr6:163844200-163848000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:163844200-163853600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:163844200-163860400	Weak transcription	Lung	lung
27	chr6:163844600-163848000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr6:163844600-163848600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:163844600-163848800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:163844600-163850800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:163844600-163851000	Weak transcription	Gastric	stomach
32	chr6:163844800-163849200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:163845000-163848600	Weak transcription	A549	lung
34	chr6:163845200-163848000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr6:163845400-163848600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:163845400-163848600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:163845400-163851600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:163845400-163877800	Weak transcription	Fetal Muscle Leg	muscle
39	chr6:163845600-163848000	Weak transcription	K562	blood
40	chr6:163845600-163848400	Weak transcription	NHDF-Ad	bronchial
41	chr6:163845600-163848400	Weak transcription	Osteobl	bone
42	chr6:163845600-163848600	Weak transcription	NHLF	lung
43	chr6:163845800-163848400	Weak transcription	NH-A	brain
44	chr6:163846000-163850000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr6:163846000-163861600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:163846400-163848400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:163846400-163849800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:163846400-163850800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:163846400-163851000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr6:163846400-163860000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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