Variant report

Variant	rs1997195
Chromosome Location	chr17:17324481-17324482
allele	G/T
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	MAZ	chr17:17324227-17324491	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17323645..17325361-chr17:17339131..17341105,2	MCF-7	breast:
2	chr17:17321962..17324766-chr17:17326555..17329436,3	K562	blood:

Variant related genes	Relation type
ENSG00000227158	TF binding region

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

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

rs_ID	r²[population]
rs56863923	0.81[ASN][1000 genomes]
rs59206606	0.81[ASN][1000 genomes]
rs61172106	0.96[EUR][1000 genomes]
rs7215537	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs73288430	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73288439	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73981949	1.00[EUR][1000 genomes]
rs9899041	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058849	chr17:17308009-17348548	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1058804	chr17:17308984-17348548	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1062207	chr17:17310099-17344599	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv543234	chr17:17310099-17344599	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv574523	chr17:17310886-17347995	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1056137	chr17:17311017-17348939	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv543235	chr17:17311017-17348939	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv515800	chr17:17322196-17344653	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17317000-17327200	Enhancers	Fetal Muscle Leg	muscle
2	chr17:17318400-17324600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:17319200-17325000	Enhancers	K562	blood
4	chr17:17319400-17324600	Enhancers	Right Ventricle	heart
5	chr17:17321200-17324600	Enhancers	NHDF-Ad	bronchial
6	chr17:17321400-17324600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr17:17321600-17325000	Enhancers	Placenta	Placenta
8	chr17:17321800-17324600	Enhancers	NHLF	lung
9	chr17:17322000-17324600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:17322000-17326800	Enhancers	Fetal Muscle Trunk	muscle
11	chr17:17322600-17327200	Weak transcription	Thymus	Thymus
12	chr17:17322800-17324600	Enhancers	Osteobl	bone
13	chr17:17323000-17324800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr17:17323200-17324600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr17:17323200-17324600	Enhancers	Spleen	Spleen
16	chr17:17323600-17324600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:17323600-17324600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr17:17323600-17324800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr17:17323800-17324600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:17323800-17327600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr17:17324000-17324600	Enhancers	Adipose Nuclei	Adipose
22	chr17:17324000-17324800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:17324200-17325000	Enhancers	Fetal Thymus	thymus
24	chr17:17324400-17324600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:17324400-17324600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr17:17324400-17325200	Weak transcription	HepG2	liver
27	chr17:17324400-17325400	Weak transcription	Left Ventricle	heart
28	chr17:17324400-17325600	Weak transcription	Right Atrium	heart

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