Variant report

Variant	rs577988950
Chromosome Location	chr17:15555089-15555090
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	POLR2A	chr17:15554763-15555320	HUVEC	blood vessel:	n/a	n/a
3	MYC	chr17:15555019-15555187	MCF-7	breast:	n/a	n/a
4	EP300	chr17:15554130-15555513	ECC-1	luminal epithelium:	n/a	chr17:15554331-15554347
5	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
6	RAD21	chr17:15554334-15555354	MCF-7	breast:	n/a	chr17:15554362-15554374
7	EP300	chr17:15554899-15555281	SK-N-SH_RA	brain:	n/a	n/a
8	YY1	chr17:15554932-15555288	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr17:15554317-15555449	Hela-S3	cervix:	n/a	chr17:15555238-15555247 chr17:15555240-15555249
10	E2F4	chr17:15554943-15555327	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr17:15554368-15555476	PFSK-1	brain:	n/a	n/a
12	CTCF	chr17:15554960-15555110	HPF	lung:	n/a	n/a
13	POLR2A	chr17:15553120-15555494	MCF10A-Er-Src	breast:	n/a	n/a
14	RAD21	chr17:15554732-15555374	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr17:15554719-15555452	Hela-S3	cervix:	n/a	n/a
16	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
17	TBL1XR1	chr17:15554983-15555272	K562	blood:	n/a	n/a
18	CTCF	chr17:15555040-15555190	A549	lung:	n/a	n/a
19	USF1	chr17:15554972-15555394	H1-hESC	embryonic stem cell:	n/a	chr17:15555238-15555249
20	POLR2A	chr17:15554638-15555452	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr17:15554891-15555357	HL-60	blood:	n/a	n/a
22	ELF1	chr17:15553937-15555363	A549	lung:	n/a	n/a
23	TCF12	chr17:15554296-15555302	A549	lung:	n/a	chr17:15554340-15554347
24	CTCF	chr17:15555060-15555210	HEK293	kidney:	n/a	n/a
25	CTCF	chr17:15555020-15555170	Caco-2	colon:	n/a	n/a
26	TCF12	chr17:15552877-15555623	A549	lung:	n/a	chr17:15554340-15554347
27	POLR2A	chr17:15554351-15555297	MCF-7	breast:	n/a	n/a
28	REST	chr17:15554498-15555536	A549	lung:	n/a	n/a
29	FOXP2	chr17:15554674-15555270	PFSK-1	brain:	n/a	n/a
30	YY1	chr17:15554930-15555395	SK-N-SH_RA	brain:	n/a	n/a
31	CTCF	chr17:15555000-15555150	SAEC	small airway:	n/a	n/a
32	POLR2A	chr17:15554735-15555204	A549	lung:	n/a	n/a
33	JUN	chr17:15554900-15555286	K562	blood:	n/a	n/a
34	BRCA1	chr17:15554914-15555335	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr17:15554689-15555536	SK-N-SH	brain:	n/a	n/a
36	GTF2F1	chr17:15554188-15555428	Hela-S3	cervix:	n/a	n/a
37	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
38	ATF3	chr17:15554934-15555319	K562	blood:	n/a	n/a
39	FOS	chr17:15554862-15555422	HUVEC	blood vessel:	n/a	chr17:15555203-15555214
40	GABPA	chr17:15554608-15555310	A549	lung:	n/a	n/a
41	CTCF	chr17:15555080-15555230	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr17:15555080-15555230	HBMEC	blood vessel:	n/a	n/a
43	ZNF143	chr17:15554788-15555315	K562	blood:	n/a	n/a
44	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
45	PBX3	chr17:15554063-15555493	A549	lung:	n/a	n/a
46	POLR2A	chr17:15554930-15555292	K562	blood:	n/a	n/a
47	REST	chr17:15555019-15555197	Hela-S3	cervix:	n/a	n/a
48	BCL3	chr17:15553870-15555356	A549	lung:	n/a	n/a
49	CTCF	chr17:15555020-15555170	HUVEC	blood vessel:	n/a	n/a
50	ETS1	chr17:15554144-15555346	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:15553842..15556755-chr17:15901183..15904132,3	MCF-7	breast:
2	chr1:145610525..145611182-chr17:15554605..15555423,2	Hela-S3	cervix:
3	chr17:15553526..15556124-chr17:15902249..15904435,2	MCF-7	breast:
4	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
ENSG00000186141	Chromatin interaction
ENSG00000121848	Chromatin interaction
ENSG00000011295	Chromatin interaction
ENSG00000214941	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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15552200-15555200	Active TSS	Stomach Mucosa	stomach
2	chr17:15552200-15564600	Weak transcription	HepG2	liver
3	chr17:15552400-15555600	Active TSS	A549	lung
4	chr17:15552400-15555600	Active TSS	HSMM	muscle
5	chr17:15552400-15555600	Active TSS	HSMMtube	muscle
6	chr17:15553000-15555400	Flanking Active TSS	HUVEC	blood vessel
7	chr17:15553000-15555600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr17:15553000-15555600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr17:15553000-15555600	Flanking Active TSS	Osteobl	bone
10	chr17:15553200-15555400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:15553200-15555400	Flanking Active TSS	Fetal Lung	lung
12	chr17:15553200-15555400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr17:15553200-15555600	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr17:15553400-15555200	Active TSS	Fetal Intestine Small	intestine
15	chr17:15553400-15555200	Active TSS	NHEK	skin
16	chr17:15553400-15555600	Active TSS	Aorta	Aorta
17	chr17:15553600-15555200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:15553600-15555400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr17:15553600-15555400	Active TSS	Duodenum Mucosa	Duodenum
20	chr17:15553600-15555400	Active TSS	Fetal Intestine Large	intestine
21	chr17:15553600-15555600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr17:15553600-15555600	Active TSS	NHDF-Ad	bronchial
23	chr17:15553800-15555200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr17:15553800-15555400	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr17:15554000-15555200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:15554000-15555200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr17:15554000-15555200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:15554000-15555200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr17:15554000-15555200	Flanking Active TSS	Pancreas	Pancrea
30	chr17:15554000-15555200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr17:15554000-15555400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr17:15554000-15555400	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr17:15554000-15555400	Active TSS	Fetal Brain Male	brain
34	chr17:15554000-15555600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:15554000-15555600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr17:15554200-15555200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:15554200-15555200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:15554200-15555200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr17:15554200-15555200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr17:15554200-15555400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr17:15554200-15555400	Active TSS	Brain Germinal Matrix	brain
42	chr17:15554200-15555600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr17:15554200-15555600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr17:15554200-15555600	Active TSS	Muscle Satellite Cultured Cells	--
45	chr17:15554400-15555200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr17:15554400-15555200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:15554400-15555200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr17:15554400-15555200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr17:15554400-15555200	Flanking Active TSS	Fetal Kidney	kidney
50	chr17:15554400-15555200	Flanking Active TSS	Fetal Thymus	thymus

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