Variant report

Variant	rs12941158
Chromosome Location	chr17:15299575-15299576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2875119	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4792591	1.00[AMR][1000 genomes]
rs59768556	1.00[AMR][1000 genomes]
rs73280339	1.00[AMR][1000 genomes]
rs73280922	1.00[AMR][1000 genomes]
rs73978001	1.00[AMR][1000 genomes]
rs9891798	1.00[AMR][1000 genomes]
rs9895397	0.91[AFR][1000 genomes];1.00[AMR][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	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv907703	chr17:15199907-15370701	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv949172	chr17:15206970-15416808	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15292400-15301000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr17:15292400-15301000	Weak transcription	Fetal Muscle Leg	muscle
3	chr17:15296200-15301400	Weak transcription	HSMMtube	muscle
4	chr17:15296400-15301200	Weak transcription	NHLF	lung
5	chr17:15296400-15301400	Weak transcription	Osteobl	bone
6	chr17:15296600-15301000	Weak transcription	HSMM	muscle
7	chr17:15296600-15301200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr17:15296600-15301200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:15296600-15301200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:15296600-15301400	Weak transcription	NHDF-Ad	bronchial
11	chr17:15296800-15301000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr17:15296800-15301400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:15297200-15301000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:15297200-15301000	Weak transcription	HMEC	breast
15	chr17:15297200-15301200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:15298200-15300800	Weak transcription	Pancreas	Pancrea
17	chr17:15298200-15301000	Weak transcription	NHEK	skin
18	chr17:15298400-15301200	Weak transcription	Fetal Lung	lung
19	chr17:15298600-15301000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr17:15299000-15301000	Weak transcription	Colon Smooth Muscle	Colon
21	chr17:15299000-15301000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr17:15299200-15300800	Weak transcription	Fetal Stomach	stomach
23	chr17:15299400-15299600	Enhancers	Right Ventricle	heart
24	chr17:15299400-15299600	Enhancers	Skeletal Muscle Female	skeletal muscle

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