Variant report

Variant	rs73977985
Chromosome Location	chr17:15172125-15172126
allele	C/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	REST	chr17:15171970-15172279	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15164336..15168726-chr17:15169806..15174602,5	K562	blood:
2	chr17:15166025..15168279-chr17:15170899..15173519,3	MCF-7	breast:

Variant related genes	Relation type
PMP22	TF binding region
ENSG00000109099	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10468477	1.00[EUR][1000 genomes]
rs16951111	1.00[EUR][1000 genomes]
rs16951173	1.00[EUR][1000 genomes]
rs16951182	1.00[EUR][1000 genomes]
rs16951185	1.00[EUR][1000 genomes]
rs16951193	1.00[EUR][1000 genomes]
rs16951242	1.00[EUR][1000 genomes]
rs16951244	1.00[EUR][1000 genomes]
rs4791616	1.00[EUR][1000 genomes]
rs4792583	1.00[EUR][1000 genomes]
rs56041344	1.00[EUR][1000 genomes]
rs56396768	1.00[EUR][1000 genomes]
rs57135592	1.00[EUR][1000 genomes]
rs60259810	1.00[EUR][1000 genomes]
rs60339737	1.00[EUR][1000 genomes]
rs60442420	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7225695	1.00[EUR][1000 genomes]
rs73977983	1.00[EUR][1000 genomes]
rs73977987	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73977991	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73977993	1.00[EUR][1000 genomes]
rs73977994	1.00[EUR][1000 genomes]
rs73977997	1.00[EUR][1000 genomes]
rs73977998	1.00[EUR][1000 genomes]
rs8071793	1.00[EUR][1000 genomes]
rs8076198	1.00[EUR][1000 genomes]
rs9912273	1.00[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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15168600-15172800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:15168600-15173200	Enhancers	Fetal Muscle Leg	muscle
3	chr17:15168600-15174000	Weak transcription	Gastric	stomach
4	chr17:15168600-15174000	Weak transcription	Psoas Muscle	Psoas
5	chr17:15168800-15172200	Weak transcription	Brain Anterior Caudate	brain
6	chr17:15168800-15172800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr17:15168800-15173000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr17:15168800-15173000	Weak transcription	Pancreas	Pancrea
9	chr17:15169000-15172600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr17:15169000-15173600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr17:15169200-15176200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr17:15169400-15173200	Weak transcription	A549	lung
13	chr17:15169600-15172200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr17:15169800-15172400	Enhancers	Fetal Brain Female	brain
15	chr17:15169800-15172800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr17:15170000-15173000	Enhancers	Fetal Brain Male	brain
17	chr17:15170400-15173000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr17:15170600-15172800	Weak transcription	Right Atrium	heart
19	chr17:15170600-15175600	Weak transcription	Lung	lung
20	chr17:15171400-15173000	Enhancers	Colon Smooth Muscle	Colon
21	chr17:15171400-15173200	Enhancers	Fetal Stomach	stomach
22	chr17:15171400-15173600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr17:15171600-15172800	Weak transcription	Placenta	Placenta
24	chr17:15171800-15173000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr17:15171800-15173000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr17:15171800-15173000	Weak transcription	Fetal Heart	heart
27	chr17:15171800-15173200	Enhancers	Brain Angular Gyrus	brain
28	chr17:15171800-15173200	Enhancers	Brain Hippocampus Middle	brain
29	chr17:15171800-15173200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr17:15172000-15172200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:15172000-15172200	Enhancers	Left Ventricle	heart
32	chr17:15172000-15172200	Enhancers	Right Ventricle	heart
33	chr17:15172000-15172200	Enhancers	HSMMtube	muscle
34	chr17:15172000-15173200	Enhancers	Brain Cingulate Gyrus	brain
35	chr17:15172000-15173200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr17:15172000-15173200	Enhancers	Brain Substantia Nigra	brain
37	chr17:15172000-15173200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr17:15172000-15173200	Enhancers	Ovary	ovary
39	chr17:15172000-15173200	Enhancers	Stomach Smooth Muscle	stomach
40	chr17:15172000-15173800	Enhancers	Adipose Nuclei	Adipose
41	chr17:15172000-15174000	Enhancers	Fetal Lung	lung
42	chr17:15172000-15177200	Enhancers	Skeletal Muscle Male	skeletal muscle

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