Variant report

Variant	rs10103995
Chromosome Location	chr8:129879753-129879754
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:129872569..129876540-chr8:129878616..129881184,3	K562	blood:
2	chr8:129865860..129869579-chr8:129877876..129880689,4	K562	blood:
3	chr8:129878873..129881112-chr8:129881741..129884417,2	K562	blood:
4	chr8:129868858..129872488-chr8:129878808..129881369,3	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[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10094688	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10447999	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10956447	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10956448	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10956449	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10956450	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11776624	0.85[ASN][1000 genomes]
rs11782234	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11785020	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12547429	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12550594	0.95[EUR][1000 genomes]
rs12675522	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12676288	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12677710	0.88[EUR][1000 genomes]
rs12677712	0.88[EUR][1000 genomes]
rs12678715	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12679405	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12680246	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13276570	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13277797	0.95[EUR][1000 genomes]
rs13281755	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1356763	0.89[EUR][1000 genomes]
rs1441992	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1519839	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1519853	0.82[EUR][1000 genomes]
rs1519854	0.82[EUR][1000 genomes]
rs1519855	0.82[EUR][1000 genomes]
rs17239733	0.89[EUR][1000 genomes]
rs17240568	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17240784	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17241323	1.00[CEU][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17819852	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1879165	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2056313	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2894458	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35902990	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4593504	1.00[CEU][hapmap];0.80[MEX][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs4733652	0.89[EUR][1000 genomes]
rs4733656	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4733657	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6995598	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6996154	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6999288	0.89[EUR][1000 genomes]
rs7831440	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7842437	0.88[EUR][1000 genomes]
rs7845615	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs871502	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9656973	0.83[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
rs10103995	KCNQ3	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:129874600-129886200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:129875000-129887000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:129876200-129886200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:129877000-129885000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr8:129878600-129879800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:129878600-129880000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:129878800-129879800	Enhancers	NH-A	brain
8	chr8:129879000-129879800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:129879000-129880000	Enhancers	HSMM	muscle
10	chr8:129879000-129880200	Enhancers	NHDF-Ad	bronchial
11	chr8:129879000-129881400	Enhancers	Osteobl	bone
12	chr8:129879000-129881600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:129879200-129879800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:129879200-129879800	Enhancers	HMEC	breast
15	chr8:129879200-129879800	Enhancers	NHEK	skin
16	chr8:129879600-129880800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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