Variant report

Variant	rs10956448
Chromosome Location	chr8:129854369-129854370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10092273	1.00[CEU][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10094688	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10103995	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10447999	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10956447	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956449	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10956450	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11782234	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11785020	0.89[EUR][1000 genomes]
rs12547429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550594	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12675522	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12676288	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677710	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12677712	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12678715	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12679405	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12680246	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13276570	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13277797	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13281755	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1356763	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1441992	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1519839	0.89[EUR][1000 genomes]
rs1519853	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1519854	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1519855	0.85[EUR][1000 genomes]
rs17239733	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17240568	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17240784	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17241323	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17819852	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1879165	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2056313	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2894458	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35526947	0.82[EUR][1000 genomes]
rs35902990	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4593504	1.00[CEU][hapmap];0.95[GIH][hapmap];0.80[JPT][hapmap];0.83[LWK][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4733652	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4733656	0.96[EUR][1000 genomes]
rs4733657	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6995598	0.96[EUR][1000 genomes]
rs6996154	0.96[EUR][1000 genomes]
rs6999288	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7831440	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7842437	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs871502	0.96[EUR][1000 genomes]
rs9656973	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612212	chr8:129851646-129861039	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv612213	chr8:129851646-129862009	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv612214	chr8:129851646-129862252	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10956448	KCNQ3	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129843800-129863600	Weak transcription	Dnd41	blood
2	chr8:129848000-129857200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:129849600-129854800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:129852200-129857200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:129853400-129856800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:129853400-129856800	Weak transcription	HSMM	muscle
7	chr8:129853400-129856800	Weak transcription	Osteobl	bone
8	chr8:129853400-129857000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:129853400-129857600	Weak transcription	NHLF	lung
10	chr8:129853600-129857000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:129853600-129857000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:129853600-129857000	Weak transcription	NHDF-Ad	bronchial
13	chr8:129853600-129857200	Weak transcription	HSMMtube	muscle
14	chr8:129854200-129854400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:129854200-129854600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:129854200-129854800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:129854200-129854800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:129854200-129854800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:129854200-129854800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr8:129854200-129854800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:129854200-129854800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:129854200-129855000	Enhancers	H1 Cell Line	embryonic stem cell

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