Variant report

Variant	rs12084043
Chromosome Location	chr1:94730188-94730189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11165098	0.94[ASN][1000 genomes]
rs11165104	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165105	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165111	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11165120	0.91[YRI][hapmap]
rs11587699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12069420	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090310	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12090491	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12096115	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1330855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1687949	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17111360	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17111482	0.81[YRI][hapmap]
rs1756254	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2150269	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2774923	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28613199	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35493159	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3789688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[ASN][1000 genomes]
rs3814019	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3827751	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs58466782	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59960594	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs722296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7525008	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7528831	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7530160	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7535547	0.91[YRI][hapmap]
rs7538484	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7540684	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7548951	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][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	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12084043	WDR41	cis	Temporal Cortex	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94725200-94730600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:94725400-94730200	Weak transcription	NHEK	skin
3	chr1:94725400-94730400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:94725400-94730600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:94725400-94730800	Weak transcription	Psoas Muscle	Psoas
6	chr1:94725600-94730800	Weak transcription	A549	lung
7	chr1:94725800-94730200	Weak transcription	HMEC	breast
8	chr1:94725800-94730400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:94725800-94730600	Weak transcription	Adipose Nuclei	Adipose
10	chr1:94725800-94730800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:94725800-94742600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:94726000-94730400	Weak transcription	NH-A	brain
13	chr1:94726000-94731400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:94726200-94730200	Weak transcription	NHLF	lung
15	chr1:94726200-94730200	Weak transcription	Osteobl	bone
16	chr1:94726600-94731000	Weak transcription	HSMMtube	muscle
17	chr1:94726800-94730400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:94728600-94732400	Enhancers	NHDF-Ad	bronchial
19	chr1:94729400-94732200	Enhancers	HUVEC	blood vessel
20	chr1:94729400-94733200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:94729600-94730400	Enhancers	Fetal Heart	heart
22	chr1:94729600-94732600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:94729800-94732400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:94729800-94732400	Enhancers	Fetal Muscle Leg	muscle
25	chr1:94730000-94731600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:94730000-94731800	Enhancers	Spleen	Spleen
27	chr1:94730000-94731800	Enhancers	HSMM	muscle
28	chr1:94730000-94732200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:94730000-94732200	Enhancers	Muscle Satellite Cultured Cells	--

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