Variant report

Variant	rs7751784
Chromosome Location	chr6:163930187-163930188
allele	A/G
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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL078585.1-4	chr6:163930139-163932378	ENSG00000251068

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1016501	0.85[EUR][1000 genomes]
rs1016502	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1040514	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1234603	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1234976	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1238371	0.86[EUR][1000 genomes]
rs1614795	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1619076	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1619863	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1737601	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1737603	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1737604	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1737606	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1737609	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1737611	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1744924	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1744925	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1744926	0.82[EUR][1000 genomes]
rs1744927	0.82[EUR][1000 genomes]
rs1744928	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1744933	0.84[EUR][1000 genomes]
rs2038146	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2038147	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2038148	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2057003	0.94[EUR][1000 genomes]
rs2092406	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2092407	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2103671	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2179523	0.85[EUR][1000 genomes]
rs2179524	0.85[EUR][1000 genomes]
rs2321700	0.84[EUR][1000 genomes]
rs2321702	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2745364	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2757582	0.81[EUR][1000 genomes]
rs2757583	0.91[EUR][1000 genomes]
rs2757586	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2757587	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2759381	0.85[EUR][1000 genomes]
rs2759382	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2759383	0.82[EUR][1000 genomes]
rs2759384	0.82[EUR][1000 genomes]
rs2759389	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2759393	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2759395	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2874602	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4708997	0.83[EUR][1000 genomes]
rs6455900	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6455901	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6455902	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6455903	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6455904	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6905852	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6906008	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6909364	0.93[EUR][1000 genomes]
rs6913113	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6914387	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6915247	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6924130	0.83[EUR][1000 genomes]
rs6926584	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6927417	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6931049	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs721190	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs721191	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7749189	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7751779	0.81[EUR][1000 genomes]
rs7761088	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7768051	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7769145	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7775850	0.85[EUR][1000 genomes]
rs783138	0.82[EUR][1000 genomes]
rs809155	0.82[EUR][1000 genomes]
rs814143	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9295222	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9295223	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9347754	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9347755	0.85[EUR][1000 genomes]
rs9347756	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9347759	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9356117	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9356120	0.81[EUR][1000 genomes]
rs9365572	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9365573	0.85[EUR][1000 genomes]
rs9365574	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9456866	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9456869	0.85[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	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
rs7751784	QKI	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163911800-163934800	Weak transcription	Pancreas	Pancrea
2	chr6:163920200-163934800	Weak transcription	Ovary	ovary
3	chr6:163924400-163931600	Weak transcription	Aorta	Aorta
4	chr6:163925400-163931000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:163925600-163930600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:163926000-163930600	ZNF genes & repeats	Fetal Muscle Leg	muscle
7	chr6:163926600-163934800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:163926600-163934800	Weak transcription	Lung	lung
9	chr6:163926600-163934800	Weak transcription	Psoas Muscle	Psoas
10	chr6:163926600-163934800	Weak transcription	Right Atrium	heart
11	chr6:163926600-163946200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:163926600-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
14	chr6:163926800-163930200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:163926800-163931400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr6:163926800-163934800	Weak transcription	Right Ventricle	heart
17	chr6:163927200-163931000	Weak transcription	Left Ventricle	heart
18	chr6:163927200-163951600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:163928000-163930400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:163928000-163930600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr6:163928200-163951600	Weak transcription	Spleen	Spleen
22	chr6:163928400-163931800	Weak transcription	NH-A	brain
23	chr6:163928600-163931000	Enhancers	Brain Substantia Nigra	brain
24	chr6:163928600-163931200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:163928600-163934000	Weak transcription	Fetal Heart	heart
26	chr6:163928600-163938400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:163928600-163941000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:163928800-163930400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:163928800-163934800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr6:163928800-163942800	Weak transcription	HSMM	muscle
31	chr6:163928800-163944000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:163928800-163946600	Weak transcription	HUVEC	blood vessel
33	chr6:163929000-163930200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:163929000-163930400	Weak transcription	Osteobl	bone
35	chr6:163929000-163933200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:163929000-163938000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:163929000-163947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:163929200-163933200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:163929200-163946600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:163929200-163946800	Weak transcription	HMEC	breast
41	chr6:163929400-163943800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr6:163929400-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:163929600-163930200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:163929600-163933200	Weak transcription	K562	blood
45	chr6:163929600-163934200	Weak transcription	HepG2	liver
46	chr6:163929600-163934800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:163929600-163940000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:163929600-163947200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:163929600-163950800	Weak transcription	Fetal Lung	lung
50	chr6:163929600-163951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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