Variant report

Variant	rs28469179
Chromosome Location	chr17:17321706-17321707
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr17:17321081-17322099	K562	blood:	n/a	n/a
2	GATA1	chr17:17319700-17322427	PBDE	blood:	n/a	chr17:17322176-17322184
3	GATA2	chr17:17321641-17322091	K562	blood:	n/a	n/a
4	MAX	chr17:17321653-17322079	K562	blood:	n/a	n/a
5	CEBPD	chr17:17321672-17322064	K562	blood:	n/a	n/a
6	MAX	chr17:17321647-17322213	HepG2	liver:	n/a	n/a
7	JUN	chr17:17320944-17322407	K562	blood:	n/a	n/a
8	E2F6	chr17:17321705-17322224	K562	blood:	n/a	n/a
9	MAFK	chr17:17321680-17322077	K562	blood:	n/a	n/a
10	MAFF	chr17:17321702-17322048	K562	blood:	n/a	n/a
11	TEAD4	chr17:17321635-17322095	K562	blood:	n/a	n/a
12	IRF1	chr17:17321222-17322059	K562	blood:	n/a	n/a
13	ARID3A	chr17:17321122-17322055	K562	blood:	n/a	n/a
14	KAP1	chr17:17321310-17321863	K562	blood:	n/a	n/a
15	EP300	chr17:17321587-17322124	HepG2	liver:	n/a	n/a
16	TEAD4	chr17:17321622-17322148	K562	blood:	n/a	n/a
17	ARID3A	chr17:17321226-17322088	HepG2	liver:	n/a	n/a
18	IRF1	chr17:17321571-17321939	K562	blood:	n/a	n/a
19	GATA1	chr17:17321167-17322065	PBDEFetal	blood:	n/a	n/a
20	CUX1	chr17:17321122-17322015	K562	blood:	n/a	n/a
21	CEBPD	chr17:17321649-17322173	K562	blood:	n/a	n/a
22	EP300	chr17:17321081-17322078	K562	blood:	n/a	n/a
23	ZNF384	chr17:17321246-17322156	K562	blood:	n/a	n/a
24	RCOR1	chr17:17321182-17322086	K562	blood:	n/a	n/a
25	MYC	chr17:17321697-17322048	K562	blood:	n/a	n/a
26	ZMIZ1	chr17:17321191-17321980	K562	blood:	n/a	n/a
27	STAT3	chr17:17321366-17321738	MCF10A-Er-Src	breast:	n/a	n/a
28	JUND	chr17:17321691-17322144	K562	blood:	n/a	chr17:17321918-17321929
29	STAT5A	chr17:17321640-17321973	K562	blood:	n/a	n/a
30	CBX3	chr17:17321657-17322036	K562	blood:	n/a	n/a
31	MYC	chr17:17321129-17322110	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17318799..17322004-chr17:17396586..17401319,4	MCF-7	breast:
2	chr17:17321553..17324468-chr17:17587073..17589435,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227158	TF binding region
ENSG00000108551	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs28605635	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7215472	0.95[AFR][1000 genomes]
rs7215537	0.95[AFR][1000 genomes]
rs73288417	0.88[AFR][1000 genomes]
rs73288419	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9899041	0.91[AFR][1000 genomes]
rs9910270	0.82[AFR][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:54 , 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	chr17:17315400-17322800	Enhancers	Fetal Thymus	thymus
3	chr17:17317000-17327200	Enhancers	Fetal Muscle Leg	muscle
4	chr17:17317200-17324400	Enhancers	Left Ventricle	heart
5	chr17:17317600-17322200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:17318400-17322000	Enhancers	HSMM	muscle
7	chr17:17318400-17322800	Weak transcription	Fetal Brain Male	brain
8	chr17:17318400-17324600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr17:17318800-17322600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr17:17318800-17324400	Enhancers	HepG2	liver
11	chr17:17319200-17322200	Enhancers	HSMMtube	muscle
12	chr17:17319200-17325000	Enhancers	K562	blood
13	chr17:17319400-17324600	Enhancers	Right Ventricle	heart
14	chr17:17319600-17324000	Enhancers	Brain Cingulate Gyrus	brain
15	chr17:17319600-17324400	Enhancers	Right Atrium	heart
16	chr17:17319800-17322800	Enhancers	Fetal Intestine Large	intestine
17	chr17:17319800-17322800	Enhancers	Fetal Intestine Small	intestine
18	chr17:17319800-17323600	Enhancers	Pancreas	Pancrea
19	chr17:17320000-17322400	Enhancers	HUVEC	blood vessel
20	chr17:17320200-17321800	Weak transcription	NHLF	lung
21	chr17:17320200-17323800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr17:17320400-17321800	Weak transcription	Hela-S3	cervix
23	chr17:17320400-17321800	Weak transcription	NH-A	brain
24	chr17:17320400-17322000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr17:17320400-17322000	Weak transcription	HMEC	breast
26	chr17:17320400-17323400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:17320600-17321800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:17320600-17321800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr17:17320600-17321800	Weak transcription	Brain Angular Gyrus	brain
30	chr17:17320600-17322000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr17:17320600-17322000	Weak transcription	Brain Anterior Caudate	brain
32	chr17:17320600-17322000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr17:17320600-17322000	Weak transcription	Lung	lung
34	chr17:17320600-17322000	Weak transcription	Thymus	Thymus
35	chr17:17320600-17322200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr17:17320600-17322600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr17:17320600-17323200	Weak transcription	Spleen	Spleen
38	chr17:17320600-17323400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr17:17320600-17323400	Weak transcription	Esophagus	oesophagus
40	chr17:17320800-17322000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr17:17321000-17322000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:17321000-17322000	Weak transcription	Gastric	stomach
43	chr17:17321000-17322200	Enhancers	Duodenum Mucosa	Duodenum
44	chr17:17321200-17324600	Enhancers	NHDF-Ad	bronchial
45	chr17:17321400-17322400	Enhancers	Osteobl	bone
46	chr17:17321400-17322600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr17:17321400-17323400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr17:17321400-17323600	Enhancers	Brain Hippocampus Middle	brain
49	chr17:17321400-17324600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr17:17321600-17323400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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