Variant report

Variant	rs16961599
Chromosome Location	chr17:17259231-17259232
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17257302..17260550-chr17:17346867..17350783,4	MCF-7	breast:
2	chr17:17257283..17262950-chr17:17394435..17403102,12	MCF-7	breast:
3	chr17:17259108..17259812-chr17:17516987..17517700,3	MCF-7	breast:
4	chr17:17259064..17259998-chr17:17516662..17517563,5	K562	blood:
5	chr17:17259223..17259968-chr17:17404096..17405018,2	MCF-7	breast:
6	chr17:17257977..17259755-chr17:17472841..17474511,6	MCF-7	breast:
7	chr17:17255222..17260572-chr17:17470526..17473773,6	MCF-7	breast:
8	chr17:17255931..17259232-chr17:17416483..17420040,4	K562	blood:
9	chr17:17259077..17259971-chr17:17474407..17475371,2	MCF-7	breast:
10	chr17:17259111..17259919-chr17:17399843..17400794,5	MCF-7	breast:
11	chr17:17257184..17259677-chr17:17398327..17400617,4	MCF-7	breast:
12	chr17:17258751..17260211-chr17:17291478..17292805,6	MCF-7	breast:
13	chr17:17257197..17259273-chr17:17614438..17616951,2	K562	blood:
14	chr17:17254086..17257181-chr17:17257878..17260264,3	K562	blood:
15	chr17:17259051..17260073-chr17:17399842..17400699,3	MCF-7	breast:
16	chr17:17258945..17259870-chr17:17545084..17545743,2	MCF-7	breast:
17	chr17:17259010..17260210-chr17:17473024..17474162,6	MCF-7	breast:
18	chr17:17259080..17260060-chr17:17564872..17565799,3	K562	blood:
19	chr17:17258257..17260021-chr17:17471821..17472953,10	MCF-7	breast:
20	chr17:17259089..17260385-chr17:17544622..17546177,9	MCF-7	breast:
21	chr17:17258537..17261520-chr17:17290146..17293123,2	MCF-7	breast:
22	chr17:17254651..17257477-chr17:17257484..17259992,4	K562	blood:
23	chr17:17259024..17260086-chr17:17544806..17545860,9	K562	blood:
24	chr17:17258968..17259852-chr17:17343043..17343948,2	K562	blood:
25	chr17:17258752..17260284-chr17:17398889..17401777,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10521328	0.85[ASN][1000 genomes]
rs16961593	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs242251	1.00[ASN][1000 genomes]
rs242252	1.00[ASN][1000 genomes]
rs6502581	0.85[ASN][1000 genomes]
rs6502582	0.85[ASN][1000 genomes]
rs6502583	0.85[ASN][1000 genomes]
rs7210856	0.85[ASN][1000 genomes]
rs7216091	0.85[ASN][1000 genomes]
rs7222318	0.85[ASN][1000 genomes]
rs7223820	0.85[ASN][1000 genomes]
rs73981909	1.00[ASN][1000 genomes]
rs73981911	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8075306	0.85[ASN][1000 genomes]
rs955893	0.85[ASN][1000 genomes]
rs9912286	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 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	chr17:17250800-17265400	Weak transcription	Fetal Brain Female	brain
2	chr17:17254200-17259800	Weak transcription	A549	lung
3	chr17:17256000-17259400	Weak transcription	Osteobl	bone
4	chr17:17256000-17259600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:17256000-17259600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr17:17256000-17264600	Weak transcription	NHDF-Ad	bronchial
7	chr17:17256000-17265000	Weak transcription	Left Ventricle	heart
8	chr17:17256200-17259800	Weak transcription	Placenta	Placenta
9	chr17:17256400-17259600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr17:17256600-17259800	Weak transcription	HSMMtube	muscle
11	chr17:17257800-17260000	Enhancers	Fetal Heart	heart
12	chr17:17258000-17259600	Enhancers	Fetal Muscle Leg	muscle
13	chr17:17258000-17259800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:17258000-17260400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr17:17258000-17260600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:17258000-17260600	Enhancers	Dnd41	blood
17	chr17:17258200-17259400	Enhancers	Brain Anterior Caudate	brain
18	chr17:17258200-17260000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr17:17258200-17260200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:17258200-17260200	Enhancers	Fetal Brain Male	brain
21	chr17:17258400-17259800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr17:17258400-17259800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr17:17258400-17260000	Enhancers	Adipose Nuclei	Adipose
24	chr17:17258400-17260400	Enhancers	Hela-S3	cervix
25	chr17:17258400-17262000	Enhancers	Fetal Thymus	thymus
26	chr17:17258600-17259800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr17:17258600-17260200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:17258600-17260200	Enhancers	Brain Germinal Matrix	brain
29	chr17:17258600-17260400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:17258800-17259600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:17258800-17259600	Weak transcription	HUVEC	blood vessel
32	chr17:17258800-17259800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr17:17258800-17261200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr17:17258800-17265600	Weak transcription	Right Ventricle	heart
35	chr17:17259000-17259400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr17:17259000-17259400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:17259000-17259400	Enhancers	Brain Cingulate Gyrus	brain
38	chr17:17259000-17259400	Weak transcription	Thymus	Thymus
39	chr17:17259000-17259600	Weak transcription	NHLF	lung
40	chr17:17259200-17259800	Enhancers	Fetal Stomach	stomach
41	chr17:17259200-17260000	Enhancers	Fetal Muscle Trunk	muscle
42	chr17:17259200-17265000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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