Variant report

Variant	rs11003242
Chromosome Location	chr10:54643260-54643261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10508976	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10762898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10824822	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10824823	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10824828	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10824829	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11003227	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11003232	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11003234	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11003235	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11003241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11003243	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11003245	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11003246	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11814215	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12570523	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12775588	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1891645	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1935933	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2211446	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35037013	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35256266	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35483275	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4935366	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4935367	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4935368	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4935369	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61846796	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67316945	0.84[AMR][1000 genomes]
rs7900222	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7905883	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7920023	0.82[ASN][1000 genomes]
rs7922561	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv831876	chr10:54492511-54649392	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv895404	chr10:54545590-54850707	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv831877	chr10:54565135-54764638	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv467200	chr10:54585401-54726056	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv550905	chr10:54585401-54726056	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1041940	chr10:54621342-54737528	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54634000-54643600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr10:54637600-54644000	Weak transcription	Fetal Intestine Large	intestine
3	chr10:54637800-54644000	Weak transcription	Fetal Stomach	stomach
4	chr10:54639200-54644000	Weak transcription	Ovary	ovary
5	chr10:54640000-54644200	Weak transcription	Fetal Brain Female	brain
6	chr10:54640200-54643800	Weak transcription	NH-A	brain
7	chr10:54640200-54644000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr10:54640400-54643800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:54641000-54653600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:54641200-54644600	Enhancers	HUVEC	blood vessel
11	chr10:54641400-54643800	Weak transcription	Fetal Heart	heart
12	chr10:54642400-54643800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr10:54642400-54643800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr10:54642400-54643800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr10:54642600-54643800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr10:54642600-54644000	Weak transcription	Fetal Brain Male	brain
17	chr10:54642600-54647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr10:54643000-54643800	Enhancers	NHEK	skin
19	chr10:54643000-54644000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:54643000-54644000	Enhancers	HMEC	breast
21	chr10:54643000-54644600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:54643200-54644400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr10:54643200-54644600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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