Variant report

Variant	rs13375894
Chromosome Location	chr1:155613649-155613650
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10158935	0.97[AFR][1000 genomes]
rs13373934	0.89[MKK][hapmap]
rs13374779	0.88[AFR][1000 genomes]
rs13376498	0.89[MKK][hapmap];1.00[AMR][1000 genomes]
rs16836971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16837058	0.89[MKK][hapmap];1.00[AMR][1000 genomes]
rs34290183	1.00[AMR][1000 genomes]
rs57208252	0.88[AFR][1000 genomes]
rs57468684	1.00[AMR][1000 genomes]
rs57883269	1.00[AMR][1000 genomes]
rs58774418	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59287240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59992688	0.83[AFR][1000 genomes]
rs60777355	1.00[AMR][1000 genomes]
rs61375216	1.00[AMR][1000 genomes]
rs6663016	1.00[AMR][1000 genomes]
rs6673172	0.89[MKK][hapmap]
rs6699393	1.00[AMR][1000 genomes]
rs7519697	0.89[MKK][hapmap]
rs7548199	0.89[MKK][hapmap];1.00[AMR][1000 genomes]
rs7550827	1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv3431739	chr1:155514331-155664183	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv3388968	chr1:155532335-155658278	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv946419	chr1:155561148-155630744	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155605000-155618000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:155607400-155621200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:155610400-155614000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:155610600-155614200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:155611200-155613800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr1:155612400-155613800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:155612400-155615000	Weak transcription	Brain Angular Gyrus	brain
8	chr1:155612800-155614200	ZNF genes & repeats	NHEK	skin
9	chr1:155613000-155613800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:155613000-155613800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:155613000-155613800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:155613000-155613800	ZNF genes & repeats	HMEC	breast
13	chr1:155613000-155613800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr1:155613200-155617400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:155613400-155614800	Weak transcription	Hela-S3	cervix
16	chr1:155613400-155614800	Weak transcription	NH-A	brain
17	chr1:155613400-155614800	Weak transcription	Osteobl	bone
18	chr1:155613600-155614200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:155613600-155614600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:155613600-155614800	Weak transcription	A549	lung
21	chr1:155613600-155614800	Weak transcription	NHDF-Ad	bronchial
22	chr1:155613600-155615200	Weak transcription	HSMM	muscle

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