Variant report

Variant	rs12210561
Chromosome Location	chr6:163926730-163926731
allele	A/T
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:
2	chr6:163913424..163915892-chr6:163926474..163929271,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1230320	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1234977	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1572434	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1614869	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1737610	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1744929	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2259476	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2259477	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2475390	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2757575	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2757576	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2757584	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2757585	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2759386	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2759396	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6939187	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73021476	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7450397	0.94[ASN][1000 genomes]
rs783137	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs783139	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs803612	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9347752	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9347758	1.00[ASN][1000 genomes]
rs9347765	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347766	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365575	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9458843	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12210561	QKI	Cis_1M	lymphoblastoid	RTeQTL
rs12210561	QKI	cis	Whole Blood	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163911600-163928000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:163911800-163934800	Weak transcription	Pancreas	Pancrea
3	chr6:163913000-163928000	Weak transcription	HUVEC	blood vessel
4	chr6:163915600-163928000	Weak transcription	Osteobl	bone
5	chr6:163915800-163927400	Weak transcription	HSMM	muscle
6	chr6:163916000-163929200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:163916200-163928200	Enhancers	Brain Substantia Nigra	brain
8	chr6:163917000-163928000	Weak transcription	Liver	Liver
9	chr6:163920200-163934800	Weak transcription	Ovary	ovary
10	chr6:163921400-163928000	Weak transcription	NHLF	lung
11	chr6:163922200-163928000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr6:163922800-163927000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:163922800-163928000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:163922800-163928400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:163923000-163927400	Weak transcription	Fetal Lung	lung
16	chr6:163923000-163927800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:163923000-163928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:163923800-163929800	Enhancers	Brain Hippocampus Middle	brain
19	chr6:163924400-163931600	Weak transcription	Aorta	Aorta
20	chr6:163924600-163926800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
21	chr6:163925000-163927000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:163925000-163927000	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr6:163925000-163929400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr6:163925200-163926800	Enhancers	Adipose Nuclei	Adipose
25	chr6:163925200-163926800	Enhancers	Brain Angular Gyrus	brain
26	chr6:163925200-163928600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:163925200-163928800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:163925400-163928600	Enhancers	Fetal Heart	heart
29	chr6:163925400-163931000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:163925600-163926800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:163925600-163927000	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr6:163925600-163929400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:163925600-163929600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
34	chr6:163925600-163929600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr6:163925600-163930600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:163925800-163928600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:163925800-163929600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
38	chr6:163926000-163926800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:163926000-163926800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
40	chr6:163926000-163926800	Enhancers	Right Ventricle	heart
41	chr6:163926000-163927200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:163926000-163927200	Enhancers	Left Ventricle	heart
43	chr6:163926000-163929200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr6:163926000-163929400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:163926000-163930600	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr6:163926200-163927400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr6:163926400-163927000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr6:163926400-163928600	ZNF genes & repeats	GM12878-XiMat	blood
49	chr6:163926600-163926800	Enhancers	Brain Anterior Caudate	brain
50	chr6:163926600-163928000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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