Variant report

Variant	rs78490052
Chromosome Location	chr17:15555345-15555346
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:15554778-15555492	IMR90	lung:	n/a	n/a
2	EP300	chr17:15554130-15555513	ECC-1	luminal epithelium:	n/a	chr17:15554331-15554347
3	MAX	chr17:15554882-15555415	K562	blood:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
4	RAD21	chr17:15554334-15555354	MCF-7	breast:	n/a	chr17:15554362-15554374
5	MXI1	chr17:15554317-15555449	Hela-S3	cervix:	n/a	chr17:15555238-15555247 chr17:15555240-15555249
6	POLR2A	chr17:15554368-15555476	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr17:15553120-15555494	MCF10A-Er-Src	breast:	n/a	n/a
8	RAD21	chr17:15554732-15555374	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr17:15554719-15555452	Hela-S3	cervix:	n/a	n/a
10	MAX	chr17:15554379-15555449	A549	lung:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
11	USF1	chr17:15554972-15555394	H1-hESC	embryonic stem cell:	n/a	chr17:15555238-15555249
12	POLR2A	chr17:15554638-15555452	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr17:15554891-15555357	HL-60	blood:	n/a	n/a
14	ELF1	chr17:15553937-15555363	A549	lung:	n/a	n/a
15	TCF12	chr17:15552877-15555623	A549	lung:	n/a	chr17:15554340-15554347
16	REST	chr17:15554498-15555536	A549	lung:	n/a	n/a
17	YY1	chr17:15554930-15555395	SK-N-SH_RA	brain:	n/a	n/a
18	POLR2A	chr17:15554689-15555536	SK-N-SH	brain:	n/a	n/a
19	GTF2F1	chr17:15554188-15555428	Hela-S3	cervix:	n/a	n/a
20	FOSL2	chr17:15552988-15555470	A549	lung:	n/a	chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553338-15553348 chr17:15553340-15553351 chr17:15553338-15553347 chr17:15553338-15553348
21	FOS	chr17:15554862-15555422	HUVEC	blood vessel:	n/a	chr17:15555203-15555214
22	MAX	chr17:15554482-15555441	NB4	blood:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
23	PBX3	chr17:15554063-15555493	A549	lung:	n/a	n/a
24	BCL3	chr17:15553870-15555356	A549	lung:	n/a	n/a
25	ETS1	chr17:15554144-15555346	A549	lung:	n/a	n/a
26	MAX	chr17:15554029-15555520	HCT-116	colon:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
27	CEBPB	chr17:15554807-15555362	ECC-1	luminal epithelium:	n/a	n/a
28	MAX	chr17:15554825-15555415	K562	blood:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
29	CTCF	chr17:15554739-15555346	K562	blood:	n/a	n/a
30	MYC	chr17:15554846-15555430	K562	blood:	n/a	chr17:15555238-15555249 chr17:15555238-15555249 chr17:15555237-15555250 chr17:15555238-15555249 chr17:15555234-15555253 chr17:15555239-15555248 chr17:15555237-15555250 chr17:15555238-15555247 chr17:15555239-15555249 chr17:15555237-15555250 chr17:15555239-15555249
31	MAFK	chr17:15554050-15555459	Hela-S3	cervix:	n/a	n/a
32	SP1	chr17:15554069-15555461	A549	lung:	n/a	n/a
33	POLR2A	chr17:15554260-15555445	HUVEC	blood vessel:	n/a	n/a
34	FOS	chr17:15554927-15555401	MCF10A-Er-Src	breast:	n/a	chr17:15555203-15555214
35	FOS	chr17:15554941-15555405	MCF10A-Er-Src	breast:	n/a	chr17:15555203-15555214
36	USF1	chr17:15554850-15555476	ECC-1	luminal epithelium:	n/a	chr17:15555238-15555249
37	TEAD4	chr17:15554775-15555384	K562	blood:	n/a	n/a
38	SP1	chr17:15554054-15555494	A549	lung:	n/a	n/a
39	YY1	chr17:15554699-15555388	A549	lung:	n/a	n/a
40	POLR2A	chr17:15554538-15555511	U87	brain:	n/a	n/a
41	ZNF263	chr17:15554826-15555377	HEK293-T-REx	kidney:	n/a	n/a
42	HDAC2	chr17:15554168-15555420	MCF-7	breast:	n/a	chr17:15555334-15555348
43	POLR2A	chr17:15554868-15555385	K562	blood:	n/a	n/a
44	POLR2A	chr17:15554538-15555505	U87	brain:	n/a	n/a
45	POLR2A	chr17:15554181-15555409	MCF-7	breast:	n/a	n/a
46	USF1	chr17:15554833-15555470	HCT-116	colon:	n/a	chr17:15555238-15555249
47	USF1	chr17:15554844-15555531	A549	lung:	n/a	chr17:15555238-15555249
48	JUN	chr17:15554769-15555507	K562	blood:	n/a	n/a
49	BCL3	chr17:15554150-15555483	A549	lung:	n/a	n/a
50	POLR2A	chr17:15554740-15555447	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:15553842..15556755-chr17:15901183..15904132,3	MCF-7	breast:
2	chr17:15555196..15556875-chr17:15562176..15564992,2	K562	blood:
3	chr1:145610525..145611182-chr17:15554605..15555423,2	Hela-S3	cervix:
4	chr17:15553526..15556124-chr17:15902249..15904435,2	MCF-7	breast:
5	chr17:15554505..15555485-chr7:12250755..12251548,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF286A-1	chr17:15554904-15555428	ENSG00000266261.1

Variant related genes	Relation type
ENSG00000251537	TF binding region
ENSG00000121848	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000011295	Chromatin interaction
ENSG00000186141	Chromatin interaction
ENSG00000106460	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1055677	chr17:15294011-15561130	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	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
5	nsv1058286	chr17:15315763-15561130	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv543213	chr17:15315763-15561130	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv1067123	chr17:15482503-15557728	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv907704	chr17:15542933-15567196	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	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
12	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

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15552200-15564600	Weak transcription	HepG2	liver
2	chr17:15552400-15555600	Active TSS	A549	lung
3	chr17:15552400-15555600	Active TSS	HSMM	muscle
4	chr17:15552400-15555600	Active TSS	HSMMtube	muscle
5	chr17:15553000-15555400	Flanking Active TSS	HUVEC	blood vessel
6	chr17:15553000-15555600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr17:15553000-15555600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
8	chr17:15553000-15555600	Flanking Active TSS	Osteobl	bone
9	chr17:15553200-15555400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:15553200-15555400	Flanking Active TSS	Fetal Lung	lung
11	chr17:15553200-15555400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr17:15553200-15555600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr17:15553400-15555600	Active TSS	Aorta	Aorta
14	chr17:15553600-15555400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:15553600-15555400	Active TSS	Duodenum Mucosa	Duodenum
16	chr17:15553600-15555400	Active TSS	Fetal Intestine Large	intestine
17	chr17:15553600-15555600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr17:15553600-15555600	Active TSS	NHDF-Ad	bronchial
19	chr17:15553800-15555400	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr17:15554000-15555400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr17:15554000-15555400	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr17:15554000-15555400	Active TSS	Fetal Brain Male	brain
23	chr17:15554000-15555600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:15554000-15555600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:15554200-15555400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr17:15554200-15555400	Active TSS	Brain Germinal Matrix	brain
27	chr17:15554200-15555600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr17:15554200-15555600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr17:15554200-15555600	Active TSS	Muscle Satellite Cultured Cells	--
30	chr17:15554400-15555400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr17:15554400-15555400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr17:15554400-15555400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr17:15554400-15555400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:15554600-15555400	Active TSS	Colon Smooth Muscle	Colon
35	chr17:15554600-15555400	Active TSS	Rectal Smooth Muscle	rectum
36	chr17:15554600-15555400	Active TSS	Right Atrium	heart
37	chr17:15554600-15555600	Active TSS	NHLF	lung
38	chr17:15554600-15571200	Weak transcription	Liver	Liver
39	chr17:15554800-15555400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr17:15554800-15555400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr17:15554800-15555400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr17:15554800-15555400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr17:15554800-15555400	Active TSS	Colonic Mucosa	Colon
44	chr17:15554800-15555600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr17:15554800-15555600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:15554800-15555600	Active TSS	Right Ventricle	heart
47	chr17:15555000-15555400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:15555000-15555400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr17:15555000-15555400	Enhancers	Primary B cells from peripheral blood	blood
50	chr17:15555000-15555400	Enhancers	Primary T cells from cord blood	blood

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