Variant report

Variant	rs55568
Chromosome Location	chr17:15167975-15167976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr17:15167792-15168858	A549	lung:	n/a	chr17:15168161-15168168

No.	Distal block	Cell Line	Cell type
1	chr17:15140658..15142879-chr17:15167225..15168851,2	K562	blood:
2	chr17:15166284..15168477-chr17:15174435..15176206,2	MCF-7	breast:
3	chr17:15166025..15168279-chr17:15170899..15173519,3	MCF-7	breast:

Variant related genes	Relation type
PMP22	TF binding region
ENSG00000238806	Chromatin interaction
ENSG00000230971	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs231015	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs231016	0.83[EUR][1000 genomes]
rs231017	0.89[EUR][1000 genomes]
rs231018	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs231020	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs231023	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs231025	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs231027	0.88[EUR][1000 genomes]
rs231028	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs231029	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs231030	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs66507245	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15163200-15168400	Active TSS	Right Atrium	heart
2	chr17:15163400-15168000	Active TSS	Left Ventricle	heart
3	chr17:15166400-15168000	Weak transcription	Gastric	stomach
4	chr17:15166800-15168000	Weak transcription	Esophagus	oesophagus
5	chr17:15166800-15168000	Active TSS	Fetal Stomach	stomach
6	chr17:15166800-15168000	Weak transcription	Lung	lung
7	chr17:15166800-15168600	Enhancers	Hela-S3	cervix
8	chr17:15166800-15168800	Active TSS	Colonic Mucosa	Colon
9	chr17:15166800-15168800	Flanking Active TSS	A549	lung
10	chr17:15167000-15168000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr17:15167000-15168000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr17:15167000-15168000	Weak transcription	Ovary	ovary
13	chr17:15167000-15168000	Weak transcription	Right Ventricle	heart
14	chr17:15167000-15168200	Weak transcription	Placenta	Placenta
15	chr17:15167000-15168600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr17:15167000-15168800	Enhancers	Pancreas	Pancrea
17	chr17:15167000-15169000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr17:15167200-15168000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr17:15167200-15168200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr17:15167200-15171800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr17:15167400-15168000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:15167400-15168000	Enhancers	Brain Anterior Caudate	brain
23	chr17:15167400-15168000	Enhancers	Brain Substantia Nigra	brain
24	chr17:15167400-15168000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr17:15167400-15168000	Active TSS	Stomach Smooth Muscle	stomach
26	chr17:15167400-15168200	Weak transcription	Brain Angular Gyrus	brain
27	chr17:15167400-15168200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr17:15167400-15168400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr17:15167400-15168600	Active TSS	Fetal Intestine Small	intestine
30	chr17:15167400-15168800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:15167400-15168800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:15167400-15168800	Active TSS	Colon Smooth Muscle	Colon
33	chr17:15167400-15168800	Active TSS	Rectal Smooth Muscle	rectum
34	chr17:15167600-15168000	Active TSS	Brain Hippocampus Middle	brain
35	chr17:15167600-15168000	Enhancers	Fetal Heart	heart
36	chr17:15167600-15168200	Bivalent Enhancer	Fetal Lung	lung
37	chr17:15167600-15168200	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr17:15167600-15168400	Active TSS	NHDF-Ad	bronchial
39	chr17:15167800-15168000	Flanking Active TSS	Brain Cingulate Gyrus	brain
40	chr17:15167800-15168000	Active TSS	Duodenum Mucosa	Duodenum
41	chr17:15167800-15168000	Active TSS	Psoas Muscle	Psoas
42	chr17:15167800-15168000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr17:15167800-15168200	Active TSS	NHLF	lung
44	chr17:15167800-15168600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr17:15167800-15168600	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr17:15167800-15168600	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr17:15167800-15168800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr17:15167800-15168800	Flanking Bivalent TSS/Enh	Osteobl	bone
49	chr17:15167800-15169000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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