Variant report

Variant	rs7215472
Chromosome Location	chr17:17318901-17318902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:17308878..17311513-chr17:17316490..17320191,4	MCF-7	breast:
2	chr17:17313196..17314808-chr17:17317887..17319459,2	K562	blood:
3	chr17:17318799..17322004-chr17:17396586..17401319,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs28469179	0.95[AFR][1000 genomes]
rs28605635	0.95[AFR][1000 genomes]
rs56863923	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59206606	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7208538	1.00[EUR][1000 genomes]
rs7215537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73288417	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288419	0.95[AFR][1000 genomes]
rs9899041	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17308000-17322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr17:17313200-17319400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:17313600-17319200	Weak transcription	K562	blood
4	chr17:17315200-17320600	Enhancers	Dnd41	blood
5	chr17:17315400-17319600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr17:17315400-17322800	Enhancers	Fetal Thymus	thymus
7	chr17:17315600-17319600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:17316400-17319000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr17:17316800-17321000	Enhancers	Brain Substantia Nigra	brain
10	chr17:17317000-17327200	Enhancers	Fetal Muscle Leg	muscle
11	chr17:17317200-17320400	Enhancers	Hela-S3	cervix
12	chr17:17317200-17321000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:17317200-17324400	Enhancers	Left Ventricle	heart
14	chr17:17317400-17320600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr17:17317600-17319000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:17317600-17319800	Weak transcription	Psoas Muscle	Psoas
17	chr17:17317600-17319800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:17317600-17320000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:17317600-17322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:17317800-17319400	Weak transcription	Thymus	Thymus
21	chr17:17317800-17319800	Weak transcription	Esophagus	oesophagus
22	chr17:17317800-17319800	Weak transcription	Gastric	stomach
23	chr17:17317800-17319800	Weak transcription	Lung	lung
24	chr17:17317800-17319800	Weak transcription	Pancreas	Pancrea
25	chr17:17317800-17320400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr17:17317800-17320400	Enhancers	HMEC	breast
27	chr17:17317800-17320600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr17:17317800-17320800	Enhancers	NHDF-Ad	bronchial
29	chr17:17318000-17319000	Enhancers	Brain Germinal Matrix	brain
30	chr17:17318000-17319400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr17:17318000-17319600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr17:17318000-17320400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr17:17318000-17320600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr17:17318000-17321000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr17:17318200-17319200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr17:17318200-17319200	Weak transcription	HSMMtube	muscle
37	chr17:17318200-17319400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr17:17318200-17319600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr17:17318200-17319600	Weak transcription	Colon Smooth Muscle	Colon
40	chr17:17318200-17320000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr17:17318200-17320200	Enhancers	NHLF	lung
42	chr17:17318200-17320400	Enhancers	NH-A	brain
43	chr17:17318200-17320400	Enhancers	Osteobl	bone
44	chr17:17318200-17320600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:17318200-17320600	Enhancers	Adipose Nuclei	Adipose
46	chr17:17318200-17320600	Enhancers	Brain Angular Gyrus	brain
47	chr17:17318200-17321000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr17:17318400-17319000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:17318400-17319400	Weak transcription	Small Intestine	intestine
50	chr17:17318400-17319600	Enhancers	Muscle Satellite Cultured Cells	--

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