Variant report

Variant	rs547519555
Chromosome Location	chr17:15555412-15555413
allele	A/G
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	MXI1	chr17:15554317-15555449	Hela-S3	cervix:	n/a	chr17:15555238-15555247 chr17:15555240-15555249
5	POLR2A	chr17:15554368-15555476	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr17:15553120-15555494	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr17:15554719-15555452	Hela-S3	cervix:	n/a	n/a
8	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
9	POLR2A	chr17:15554638-15555452	Hela-S3	cervix:	n/a	n/a
10	TCF12	chr17:15552877-15555623	A549	lung:	n/a	chr17:15554340-15554347
11	REST	chr17:15554498-15555536	A549	lung:	n/a	n/a
12	POLR2A	chr17:15554689-15555536	SK-N-SH	brain:	n/a	n/a
13	GTF2F1	chr17:15554188-15555428	Hela-S3	cervix:	n/a	n/a
14	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
15	FOS	chr17:15554862-15555422	HUVEC	blood vessel:	n/a	chr17:15555203-15555214
16	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
17	PBX3	chr17:15554063-15555493	A549	lung:	n/a	n/a
18	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
19	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
20	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
21	MAFK	chr17:15554050-15555459	Hela-S3	cervix:	n/a	n/a
22	SP1	chr17:15554069-15555461	A549	lung:	n/a	n/a
23	POLR2A	chr17:15554260-15555445	HUVEC	blood vessel:	n/a	n/a
24	USF1	chr17:15554850-15555476	ECC-1	luminal epithelium:	n/a	chr17:15555238-15555249
25	SP1	chr17:15554054-15555494	A549	lung:	n/a	n/a
26	POLR2A	chr17:15554538-15555511	U87	brain:	n/a	n/a
27	HDAC2	chr17:15554168-15555420	MCF-7	breast:	n/a	chr17:15555334-15555348
28	POLR2A	chr17:15554538-15555505	U87	brain:	n/a	n/a
29	USF1	chr17:15554833-15555470	HCT-116	colon:	n/a	chr17:15555238-15555249
30	USF1	chr17:15554844-15555531	A549	lung:	n/a	chr17:15555238-15555249
31	JUN	chr17:15554769-15555507	K562	blood:	n/a	n/a
32	BCL3	chr17:15554150-15555483	A549	lung:	n/a	n/a
33	POLR2A	chr17:15554740-15555447	HCT-116	colon:	n/a	n/a
34	TCF12	chr17:15554341-15555549	ECC-1	luminal epithelium:	n/a	n/a
35	TAF1	chr17:15554795-15555428	Hela-S3	cervix:	n/a	n/a
36	USF2	chr17:15554118-15555444	Hela-S3	cervix:	n/a	chr17:15555237-15555248
37	MYC	chr17:15554482-15555432	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
38	TBP	chr17:15554559-15555496	Hela-S3	cervix:	n/a	n/a
39	USF1	chr17:15554990-15555420	H1-hESC	embryonic stem cell:	n/a	chr17:15555238-15555249
40	RFX5	chr17:15554317-15555443	Hela-S3	cervix:	n/a	n/a
41	NFIC	chr17:15554269-15555469	ECC-1	luminal epithelium:	n/a	n/a
42	MAX	chr17:15555031-15555457	H1-hESC	embryonic stem cell:	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
43	POLR2A	chr17:15554747-15555448	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr17:15554620-15555502	Hela-S3	cervix:	n/a	n/a
45	NFYB	chr17:15554912-15555418	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr17:15554927-15555423	K562	blood:	n/a	n/a
47	USF1	chr17:15554816-15555424	A549	lung:	n/a	chr17:15555238-15555249
48	POLR2A	chr17:15554738-15555415	HUVEC	blood vessel:	n/a	n/a
49	USF1	chr17:15554826-15555453	SK-N-SH	brain:	n/a	chr17:15555238-15555249
50	MAX	chr17:15554024-15555433	Hela-S3	cervix:	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

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
ENSG00000106460	Chromatin interaction
ENSG00000121848	Chromatin interaction
ENSG00000186141	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000011295	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:104 , 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	chr17:15553000-15555600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr17:15553000-15555600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr17:15553000-15555600	Flanking Active TSS	Osteobl	bone
8	chr17:15553200-15555600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr17:15553400-15555600	Active TSS	Aorta	Aorta
10	chr17:15553600-15555600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr17:15553600-15555600	Active TSS	NHDF-Ad	bronchial
12	chr17:15554000-15555600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:15554000-15555600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:15554200-15555600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr17:15554200-15555600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr17:15554200-15555600	Active TSS	Muscle Satellite Cultured Cells	--
17	chr17:15554600-15555600	Active TSS	NHLF	lung
18	chr17:15554600-15571200	Weak transcription	Liver	Liver
19	chr17:15554800-15555600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:15554800-15555600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:15554800-15555600	Active TSS	Right Ventricle	heart
22	chr17:15555000-15555600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:15555000-15555600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:15555000-15555600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:15555000-15555600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr17:15555000-15555600	Active TSS	Adipose Nuclei	Adipose
27	chr17:15555000-15555600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr17:15555000-15555600	Enhancers	Fetal Heart	heart
29	chr17:15555000-15556000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr17:15555000-15556200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr17:15555000-15558400	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr17:15555000-15563200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr17:15555000-15563200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr17:15555000-15587000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr17:15555000-15587000	Weak transcription	Gastric	stomach
36	chr17:15555200-15555600	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr17:15555200-15555600	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr17:15555200-15556200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr17:15555200-15556600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr17:15555200-15556800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr17:15555200-15556800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr17:15555200-15557000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:15555200-15557400	Weak transcription	Ovary	ovary
44	chr17:15555200-15558000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr17:15555200-15558400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr17:15555200-15558400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr17:15555200-15558400	Weak transcription	Fetal Thymus	thymus
48	chr17:15555200-15559200	Weak transcription	Esophagus	oesophagus
49	chr17:15555200-15562200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr17:15555200-15562200	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links