Variant report

Variant	rs72819895
Chromosome Location	chr17:15602924-15602925
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:372)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr17:15602740-15603073	SK-N-SH_RA	brain:	n/a	n/a
2	SRF	chr17:15602886-15603027	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:15602575-15603303	HepG2	liver:	n/a	n/a
4	POLR2A	chr17:15602565-15603306	Raji	blood:	n/a	n/a
5	TAF1	chr17:15602497-15603874	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr17:15602805-15603106	K562	blood:	n/a	n/a
7	E2F4	chr17:15602831-15603058	MCF10A-Er-Src	breast:	n/a	chr17:15603029-15603038
8	ETS1	chr17:15602726-15603198	A549	lung:	n/a	chr17:15602973-15602986 chr17:15602870-15602879 chr17:15602974-15602987
9	POLR2A	chr17:15602655-15603265	ECC-1	luminal epithelium:	n/a	n/a
10	TAF1	chr17:15602579-15603279	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr17:15602689-15603162	HepG2	liver:	n/a	chr17:15603028-15603039 chr17:15603025-15603039 chr17:15603030-15603039
12	POLR2A	chr17:15602552-15603331	A549	lung:	n/a	n/a
13	POLR2A	chr17:15602538-15603326	HepG2	liver:	n/a	n/a
14	POU2F2	chr17:15602554-15603441	GM12891	blood:	n/a	n/a
15	SRF	chr17:15602815-15603031	GM12878	blood:	n/a	n/a
16	PML	chr17:15602679-15602975	GM12878	blood:	n/a	n/a
17	SP1	chr17:15602420-15603259	A549	lung:	n/a	chr17:15603190-15603197
18	MYC	chr17:15602711-15603142	MCF-7	breast:	n/a	n/a
19	CEBPB	chr17:15602806-15603183	Hela-S3	cervix:	n/a	n/a
20	POU2F2	chr17:15602610-15603283	GM12878	blood:	n/a	n/a
21	MAFF	chr17:15602726-15602939	K562	blood:	n/a	n/a
22	USF1	chr17:15602365-15603321	A549	lung:	n/a	n/a
23	MXI1	chr17:15602411-15603391	SK-N-SH	brain:	n/a	n/a
24	BRCA1	chr17:15602708-15603099	GM12878	blood:	n/a	chr17:15602870-15602879
25	YY1	chr17:15602666-15603147	GM12891	blood:	n/a	n/a
26	POLR2A	chr17:15602209-15603952	GM12878	blood:	n/a	n/a
27	GTF2F1	chr17:15602756-15603118	H1-hESC	embryonic stem cell:	n/a	n/a
28	CUX1	chr17:15602813-15603117	GM12878	blood:	n/a	n/a
29	POU2F2	chr17:15602575-15603774	GM12891	blood:	n/a	n/a
30	MAX	chr17:15602816-15603123	K562	blood:	n/a	n/a
31	NR3C1	chr17:15602683-15603369	A549	lung:	n/a	chr17:15602870-15602879
32	MAZ	chr17:15602582-15603153	GM12878	blood:	n/a	n/a
33	PML	chr17:15602532-15603356	GM12878	blood:	n/a	n/a
34	SIX5	chr17:15602822-15603092	H1-hESC	embryonic stem cell:	n/a	chr17:15602973-15602987 chr17:15602976-15602985 chr17:15602974-15602983
35	POLR2A	chr17:15602568-15603296	HCT-116	colon:	n/a	n/a
36	UBTF	chr17:15602812-15603012	K562	blood:	n/a	n/a
37	POLR2A	chr17:15602542-15603931	H1-hESC	embryonic stem cell:	n/a	n/a
38	GABPA	chr17:15602727-15603130	A549	lung:	n/a	chr17:15603028-15603039 chr17:15603025-15603039 chr17:15603030-15603039
39	POLR2A	chr17:15602233-15603933	GM12892	blood:	n/a	n/a
40	CBX3	chr17:15602574-15603183	K562	blood:	n/a	n/a
41	POLR2A	chr17:15602543-15603378	Hela-S3	cervix:	n/a	n/a
42	ATF2	chr17:15602639-15603127	GM12878	blood:	n/a	n/a
43	SP1	chr17:15602300-15603342	A549	lung:	n/a	chr17:15603190-15603197
44	ELF1	chr17:15602632-15603273	GM12878	blood:	n/a	n/a
45	USF1	chr17:15602848-15603076	ECC-1	luminal epithelium:	n/a	n/a
46	HDAC2	chr17:15602729-15603087	HepG2	liver:	n/a	chr17:15603030-15603039
47	POLR2A	chr17:15602575-15603318	GM12892	blood:	n/a	n/a
48	SMC3	chr17:15602716-15603166	Hela-S3	cervix:	n/a	n/a
49	TCF3	chr17:15602632-15603174	GM12878	blood:	n/a	chr17:15602926-15602942
50	CTCF	chr17:15602903-15603098	Spleen_OC	spleen:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:15602880-15602930	SKMC	muscle:	n/a
2	chr17:15602880-15602930	AG09309	skin:	n/a
3	chr17:15602880-15602930	AG10803	skin:	n/a
4	chr17:15602880-15602930	AoSMC	blood vessel:	n/a
5	chr17:15602880-15602930	Hela-S3	cervix:	n/a
6	chr17:15602880-15602930	MCF10A-Er-Src	breast:	n/a
7	chr17:15602880-15602930	HMEC	breast:	n/a
8	chr17:15602880-15602930	BJ	skin:	n/a
9	chr17:15602880-15602930	HL-60	blood:	n/a
10	chr17:15602880-15602930	K562	blood:	n/a
11	chr17:15602880-15602930	GM06990	blood:	n/a
12	chr17:15602880-15602930	Caco-2	colon:	n/a
13	chr17:15602880-15602930	AG04449	skin:	fetal
14	chr17:15602880-15602930	ovcar-3	ovarian:	n/a
15	chr17:15602880-15602930	RPTEC	kidney:	n/a
16	chr17:15602880-15602930	GM19239	blood:	n/a
17	chr17:15602880-15602930	H1-hESC	embryonic stem cell:	embryo
18	chr17:15602880-15602930	PANC-1	pancreas:	n/a
19	chr17:15602880-15602930	T-47D	breast:	n/a
20	chr17:15602880-15602930	HEEpiC	esophagus:	n/a
21	chr17:15602880-15602930	HepG2	liver:	n/a
22	chr17:15602880-15602930	HAEpiC	amniotic membrane:	n/a
23	chr17:15602880-15602930	SK-N-MC	brain:	n/a
24	chr17:15602880-15602930	HNPCEpiC	eye:	n/a
25	chr17:15602880-15602930	HCF	heart:	n/a
26	chr17:15602880-15602930	CMK	blood:	n/a
27	chr17:15602880-15602930	IMR90	lung:	fetal
28	chr17:15602880-15602930	GM12891	blood:	n/a
29	chr17:15602880-15602930	U87	brain:	n/a
30	chr17:15602880-15602930	MCF-7	breast:	n/a
31	chr17:15602880-15602930	NHDF-neo	bronchial:	n/a
32	chr17:15602880-15602930	Jurkat	blood:	n/a
33	chr17:15602880-15602930	HPAEpiC	pulmonary alveolar:	n/a
34	chr17:15602880-15602930	LNCaP	prostate:	n/a
35	chr17:15602880-15602930	SK-N-SH	brain:	n/a
36	chr17:15602880-15602930	ECC-1	luminal epithelium:	n/a
37	chr17:15602880-15602930	AG09319	gingival:	n/a
38	chr17:15602880-15602930	HRCEpiC	kidney:	n/a
39	chr17:15602880-15602930	HRE	kidney:	n/a
40	chr17:15602880-15602930	HCPEpiC	choroid plexus:	n/a
41	chr17:15602880-15602930	Hepatocyte	liver:	n/a
42	chr17:15602880-15602930	GM12892	blood:	n/a
43	chr17:15602880-15602930	PFSK-1	brain:	n/a
44	chr17:15602880-15602930	A549	lung:	n/a
45	chr17:15602880-15602930	HIPEpiC	eye:	n/a
46	chr17:15602880-15602930	GM12878	blood:	n/a
47	chr17:15602880-15602930	NH-A	brain:	n/a
48	chr17:15602880-15602930	NT2-D1	testis:	n/a
49	chr17:15602880-15602930	BE2_C	brain:	n/a
50	chr17:15602880-15602930	HRPEpiC	eye:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF286A-7	chr17:15602895-15603091	NONHSAT145849
2	lnc-ZNF286A-7	chr17:15602891-15603091	NONHSAT145848

No data

Variant related genes	Relation type
ENSG00000187607	TF binding region
ZNF286A	TF binding region
ENSG00000187607	CpG island
ZNF286A	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs55657306	0.89[EUR][1000 genomes]
rs55992307	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72819890	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72819896	0.96[EUR][1000 genomes]
rs72819900	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	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
7	nsv520426	chr17:15554561-15647723	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv518620	chr17:15563393-15608194	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv522564	chr17:15592762-15608194	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
11	nsv962262	chr17:15601321-15609621	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15602000-15603400	Active TSS	Primary T helper naive cells from peripheral blood	blood
2	chr17:15602000-15603400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr17:15602200-15603000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:15602200-15603400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr17:15602200-15603400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr17:15602200-15603400	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr17:15602200-15603400	Active TSS	Thymus	Thymus
8	chr17:15602200-15603800	Active TSS	Duodenum Mucosa	Duodenum
9	chr17:15602200-15604000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:15602200-15604000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:15602200-15604000	Active TSS	A549	lung
12	chr17:15602200-15604200	Active TSS	Osteobl	bone
13	chr17:15602200-15604400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:15602200-15604400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr17:15602200-15604600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr17:15602200-15604600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:15602200-15604600	Active TSS	Brain Germinal Matrix	brain
18	chr17:15602400-15603000	Active TSS	Primary T cells fromperipheralblood	blood
19	chr17:15602400-15603200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr17:15602400-15603200	Active TSS	Fetal Brain Male	brain
21	chr17:15602400-15603200	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr17:15602400-15603400	Active TSS	Primary T cells from cord blood	blood
23	chr17:15602400-15603400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:15602400-15603400	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr17:15602400-15603400	Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr17:15602400-15603400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr17:15602400-15603400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr17:15602400-15603400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr17:15602400-15603400	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr17:15602400-15603400	Active TSS	Brain Angular Gyrus	brain
31	chr17:15602400-15603400	Active TSS	Brain Anterior Caudate	brain
32	chr17:15602400-15603400	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr17:15602400-15603400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:15602400-15603400	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr17:15602400-15603400	Active TSS	Ovary	ovary
36	chr17:15602400-15603400	Active TSS	Right Atrium	heart
37	chr17:15602400-15603400	Active TSS	NHDF-Ad	bronchial
38	chr17:15602400-15603600	Active TSS	Fetal Thymus	thymus
39	chr17:15602400-15603600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr17:15602400-15603600	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr17:15602400-15603800	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr17:15602400-15603800	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr17:15602400-15603800	Active TSS	Brain Hippocampus Middle	brain
44	chr17:15602400-15603800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr17:15602400-15603800	Active TSS	Fetal Muscle Leg	muscle
46	chr17:15602400-15603800	Active TSS	Stomach Smooth Muscle	stomach
47	chr17:15602400-15603800	Active TSS	GM12878-XiMat	blood
48	chr17:15602400-15603800	Active TSS	NHEK	skin
49	chr17:15602400-15604000	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr17:15602400-15604000	Active TSS	H9 Cell Line	embryonic stem cell

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