Variant report

Variant	rs17240784
Chromosome Location	chr8:129873606-129873607
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	chr8:129872569..129876540-chr8:129878616..129881184,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10092273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10094688	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10103995	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10447999	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10956447	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10956448	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10956449	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10956450	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11776624	0.81[ASN][1000 genomes]
rs11782234	0.92[EUR][1000 genomes]
rs11785020	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12547429	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12550594	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12675522	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12676288	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12677710	0.89[EUR][1000 genomes]
rs12677712	0.89[EUR][1000 genomes]
rs12678715	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12679405	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12680246	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13276570	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13277797	0.96[EUR][1000 genomes]
rs13281755	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1356763	0.90[EUR][1000 genomes]
rs1441992	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1519839	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1519853	0.83[EUR][1000 genomes]
rs1519854	0.83[EUR][1000 genomes]
rs1519855	0.83[EUR][1000 genomes]
rs17239733	0.89[EUR][1000 genomes]
rs17240568	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17241323	1.00[CEU][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17819852	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1879165	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2056313	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2894458	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35526947	0.80[EUR][1000 genomes]
rs35902990	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4593504	1.00[CEU][hapmap];0.80[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs4733652	0.90[EUR][1000 genomes]
rs4733656	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4733657	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6995598	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6996154	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6999288	0.90[EUR][1000 genomes]
rs7831440	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7842437	0.89[EUR][1000 genomes]
rs871502	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9656973	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517445	chr8:129859924-129881299	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17240784	KCNQ3	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129871600-129875400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr8:129872000-129877000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr8:129872600-129875800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:129872600-129875800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:129872600-129877200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:129872800-129875600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:129872800-129875600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:129873000-129874000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:129873000-129875000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:129873000-129875200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:129873000-129875200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:129873000-129875600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:129873000-129876000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:129873000-129876200	Enhancers	Fetal Muscle Leg	muscle
15	chr8:129873200-129873800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:129873200-129874000	Enhancers	Fetal Muscle Trunk	muscle
17	chr8:129873200-129874200	Enhancers	Fetal Brain Male	brain
18	chr8:129873200-129874200	Flanking Active TSS	NHLF	lung
19	chr8:129873200-129874400	Flanking Active TSS	NHEK	skin
20	chr8:129873200-129874600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:129873200-129874800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:129873200-129874800	Flanking Active TSS	NHDF-Ad	bronchial
23	chr8:129873200-129876400	Enhancers	HSMM	muscle
24	chr8:129873200-129878000	Enhancers	Placenta	Placenta
25	chr8:129873400-129873800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:129873400-129873800	Enhancers	Brain Cingulate Gyrus	brain
27	chr8:129873400-129874200	Flanking Active TSS	HMEC	breast
28	chr8:129873400-129874400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:129873400-129874400	Weak transcription	Left Ventricle	heart
30	chr8:129873400-129874400	Weak transcription	Psoas Muscle	Psoas
31	chr8:129873400-129874600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:129873400-129877000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:129873600-129873800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr8:129873600-129873800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:129873600-129873800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr8:129873600-129873800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:129873600-129873800	Enhancers	Ovary	ovary
38	chr8:129873600-129874000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:129873600-129874000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:129873600-129874000	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr8:129873600-129874000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:129873600-129874000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:129873600-129874000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:129873600-129874000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:129873600-129874000	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr8:129873600-129874000	Active TSS	Fetal Kidney	kidney
47	chr8:129873600-129874200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr8:129873600-129874200	Flanking Active TSS	Fetal Stomach	stomach
49	chr8:129873600-129874200	Flanking Active TSS	HSMMtube	muscle
50	chr8:129873600-129874400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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