Variant report

Variant	rs28833845
Chromosome Location	chr17:16289375-16289376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:16289073-16289488	HepG2	liver:	n/a	n/a
2	BHLHE40	chr17:16289280-16289620	K562	blood:	n/a	n/a
3	MAX	chr17:16289327-16290530	A549	lung:	n/a	n/a
4	ZNF384	chr17:16288793-16290433	K562	blood:	n/a	chr17:16290083-16290091
5	POLR2A	chr17:16289365-16293654	K562	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16282813..16296019-chr17:16339657..16347255,30	K562	blood:
2	chr17:16288555..16291340-chr17:16297586..16299313,2	K562	blood:
3	chr17:16187586..16189942-chr17:16288272..16290093,2	K562	blood:
4	chr17:16288989..16291640-chr17:16311303..16313603,2	K562	blood:
5	chr17:16287426..16292986-chr17:16340909..16346855,13	K562	blood:
6	chr17:16117707..16120289-chr17:16289256..16291522,3	K562	blood:
7	chr17:16286242..16290489-chr17:16309075..16312817,4	K562	blood:
8	chr17:16118221..16120289-chr17:16289256..16291522,2	K562	blood:
9	chr17:16282157..16292955-chr17:16316721..16324527,22	K562	blood:
10	chr17:16286179..16290055-chr17:16297586..16300314,3	K562	blood:
11	chr17:16288792..16291392-chr17:16340996..16342885,3	MCF-7	breast:
12	chr17:16282005..16293050-chr17:16338399..16351573,30	MCF-7	breast:
13	chr17:16282157..16288322-chr17:16288596..16291244,7	MCF-7	breast:
14	chr17:16282157..16291704-chr17:16317315..16324527,14	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265401	TF binding region
ENSG00000266651	Chromatin interaction
ENSG00000264739	Chromatin interaction
ENSG00000265401	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000141027	Chromatin interaction
ENSG00000170315	Chromatin interaction
ENSG00000187688	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28610260	0.81[ASN][1000 genomes]
rs56884277	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60865756	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8065945	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9893057	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893097	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9908067	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9908960	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv1065254	chr17:16252880-16389930	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
9	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
10	nsv978556	chr17:16268432-16302479	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16285400-16289600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:16285400-16289800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:16285600-16289600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:16285600-16289600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:16286600-16289400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr17:16286800-16289800	Weak transcription	Aorta	Aorta
7	chr17:16286800-16290200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:16287000-16289400	Weak transcription	Dnd41	blood
9	chr17:16287000-16289600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr17:16287000-16289600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr17:16287000-16289600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:16287000-16289600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:16287000-16289600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr17:16287000-16289600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr17:16287000-16289800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr17:16287000-16289800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr17:16287000-16289800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr17:16287000-16289800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr17:16287000-16289800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr17:16287000-16289800	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr17:16287000-16289800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:16287000-16289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr17:16287000-16289800	Weak transcription	Ovary	ovary
24	chr17:16287000-16289800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr17:16287000-16289800	Weak transcription	HSMM	muscle
26	chr17:16287000-16289800	Weak transcription	HUVEC	blood vessel
27	chr17:16287000-16289800	Weak transcription	NH-A	brain
28	chr17:16287000-16289800	Weak transcription	NHDF-Ad	bronchial
29	chr17:16287000-16289800	Weak transcription	Osteobl	bone
30	chr17:16287000-16290000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr17:16287000-16290000	Weak transcription	HSMMtube	muscle
32	chr17:16287000-16294800	Weak transcription	Gastric	stomach
33	chr17:16287000-16296000	Weak transcription	Small Intestine	intestine
34	chr17:16287200-16289600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr17:16287200-16289600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr17:16287200-16289600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:16287200-16289600	Weak transcription	Left Ventricle	heart
38	chr17:16287200-16289600	Weak transcription	Psoas Muscle	Psoas
39	chr17:16287200-16289800	Weak transcription	Lung	lung
40	chr17:16287200-16289800	Weak transcription	Pancreas	Pancrea
41	chr17:16287200-16289800	Weak transcription	NHLF	lung
42	chr17:16287200-16290000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:16287400-16289400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr17:16287400-16289600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr17:16287400-16289600	Weak transcription	Colonic Mucosa	Colon
46	chr17:16287400-16289600	Weak transcription	Hela-S3	cervix
47	chr17:16287400-16289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:16287400-16289800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:16287400-16289800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr17:16287400-16289800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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