Variant report

Variant	rs13202282
Chromosome Location	chr6:163930243-163930244
allele	A/C
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: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1047935	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13199835	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17591955	0.80[ASN][1000 genomes]
rs2294698	0.83[ASN][1000 genomes]
rs2294706	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2294709	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35442073	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4708995	0.81[AFR][1000 genomes]
rs4709716	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4709717	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4709718	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4709720	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4709722	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59759961	0.87[ASN][1000 genomes]
rs715020	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs724826	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9346960	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9347760	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9364688	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9364689	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9364691	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9364692	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[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
rs13202282	QKI	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:52 , 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	chr6:163926800-163931400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:163926800-163934800	Weak transcription	Right Ventricle	heart
16	chr6:163927200-163931000	Weak transcription	Left Ventricle	heart
17	chr6:163927200-163951600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:163928000-163930400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:163928000-163930600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr6:163928200-163951600	Weak transcription	Spleen	Spleen
21	chr6:163928400-163931800	Weak transcription	NH-A	brain
22	chr6:163928600-163931000	Enhancers	Brain Substantia Nigra	brain
23	chr6:163928600-163931200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:163928600-163934000	Weak transcription	Fetal Heart	heart
25	chr6:163928600-163938400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr6:163928600-163941000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr6:163928800-163930400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:163928800-163934800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr6:163928800-163942800	Weak transcription	HSMM	muscle
30	chr6:163928800-163944000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:163928800-163946600	Weak transcription	HUVEC	blood vessel
32	chr6:163929000-163930400	Weak transcription	Osteobl	bone
33	chr6:163929000-163933200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:163929000-163938000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:163929000-163947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr6:163929200-163933200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:163929200-163946600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:163929200-163946800	Weak transcription	HMEC	breast
39	chr6:163929400-163943800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr6:163929400-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:163929600-163933200	Weak transcription	K562	blood
42	chr6:163929600-163934200	Weak transcription	HepG2	liver
43	chr6:163929600-163934800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:163929600-163940000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr6:163929600-163947200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:163929600-163950800	Weak transcription	Fetal Lung	lung
47	chr6:163929600-163951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr6:163929800-163957000	Weak transcription	Primary B cells from cord blood	blood
49	chr6:163930200-163930400	Enhancers	Brain Hippocampus Middle	brain
50	chr6:163930200-163933600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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