Variant report

Variant	nsv517282
Chromosome Location	chr9:115775168-115815398
allele	n/a
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	CBX3	chr9:115805076-115805405	K562	blood:	n/a	n/a
2	CBX3	chr9:115805620-115805953	K562	blood:	n/a	n/a
3	CBX3	chr9:115805492-115805812	K562	blood:	n/a	n/a
4	CEBPB	chr9:115791194-115791446	A549	lung:	n/a	chr9:115791286-115791297 chr9:115791410-115791423
5	CEBPB	chr9:115802387-115802637	HepG2	liver:	n/a	n/a
6	CEBPB	chr9:115788468-115788841	IMR90	lung:	n/a	n/a
7	CEBPB	chr9:115788566-115788732	HepG2	liver:	n/a	n/a
8	CEBPB	chr9:115791138-115791440	HepG2	liver:	n/a	chr9:115791286-115791297 chr9:115791410-115791423
9	CEBPB	chr9:115787676-115787860	IMR90	lung:	n/a	n/a
10	CTCF	chr9:115803400-115803550	GM12871	blood:	n/a	n/a
11	CTCF	chr9:115796680-115796830	GM12867	blood:	n/a	n/a
12	CTCF	chr9:115786280-115786430	GM12875	blood:	n/a	n/a
13	CTCF	chr9:115781394-115781467	Kidney_OC	kidney:	n/a	n/a
14	E2F4	chr9:115810403-115810429	MCF10A-Er-Src	breast:	n/a	n/a
15	E2F4	chr9:115807107-115807158	MCF10A-Er-Src	breast:	n/a	n/a
16	ETS1	chr9:115805106-115805396	K562	blood:	n/a	n/a
17	ETS1	chr9:115805472-115805905	A549	lung:	n/a	n/a
18	FOS	chr9:115788509-115788835	MCF10A-Er-Src	breast:	n/a	chr9:115788716-115788726 chr9:115788672-115788684 chr9:115788716-115788726 chr9:115788718-115788729 chr9:115788716-115788726 chr9:115788679-115788687
19	FOS	chr9:115802494-115802682	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr9:115788539-115788834	MCF10A-Er-Src	breast:	n/a	chr9:115788716-115788726 chr9:115788672-115788684 chr9:115788716-115788726 chr9:115788718-115788729 chr9:115788716-115788726 chr9:115788679-115788687
21	FOS	chr9:115788533-115788829	MCF10A-Er-Src	breast:	n/a	chr9:115788716-115788726 chr9:115788672-115788684 chr9:115788716-115788726 chr9:115788718-115788729 chr9:115788716-115788726 chr9:115788679-115788687
22	FOS	chr9:115788498-115788850	MCF10A-Er-Src	breast:	n/a	chr9:115788716-115788726 chr9:115788672-115788684 chr9:115788716-115788726 chr9:115788718-115788729 chr9:115788716-115788726 chr9:115788679-115788687
23	GATA3	chr9:115811022-115811207	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr9:115803791-115803943	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr9:115804804-115806204	A549	lung:	n/a	n/a
26	GTF2F1	chr9:115805326-115805805	H1-hESC	embryonic stem cell:	n/a	n/a
27	JUN	chr9:115774959-115775170	HepG2	liver:	n/a	chr9:115774992-115775005
28	JUN	chr9:115802527-115802710	HepG2	liver:	n/a	n/a
29	JUN	chr9:115803862-115803901	H1-hESC	embryonic stem cell:	n/a	n/a
30	JUN	chr9:115810630-115810667	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr9:115802440-115802788	HepG2	liver:	n/a	chr9:115802626-115802637
32	JUND	chr9:115774866-115775177	HepG2	liver:	n/a	chr9:115774922-115774931 chr9:115774921-115774930 chr9:115774927-115774936 chr9:115774918-115774927
33	KAP1	chr9:115804927-115806151	U2OS	brain:	n/a	n/a
34	KAP1	chr9:115804814-115806351	HEK293	kidney:	n/a	n/a
35	KAP1	chr9:115804633-115806377	K562	blood:	n/a	n/a
36	MAFF	chr9:115811822-115812078	HepG2	liver:	n/a	chr9:115811894-115811912
37	MAFK	chr9:115795418-115795517	Hela-S3	cervix:	n/a	n/a
38	MAFK	chr9:115811767-115812036	HepG2	liver:	n/a	chr9:115811895-115811911 chr9:115811895-115811910
39	MAFK	chr9:115811764-115812055	HepG2	liver:	n/a	chr9:115811895-115811911 chr9:115811895-115811910
40	MAFK	chr9:115805730-115805900	HepG2	liver:	n/a	chr9:115805750-115805765
41	MAX	chr9:115812112-115812124	NB4	blood:	n/a	n/a
42	MYC	chr9:115776264-115776324	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr9:115791243-115791343	MCF-7	breast:	n/a	n/a
44	POLR2A	chr9:115799005-115799041	MCF-7	breast:	n/a	n/a
45	POLR2A	chr9:115788798-115788891	MCF10A-Er-Src	breast:	n/a	n/a
46	POLR2A	chr9:115801871-115802071	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr9:115799799-115799939	ProgFib	skin:	n/a	n/a
48	POLR2A	chr9:115803402-115803514	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr9:115799000-115799045	A549	lung:	n/a	n/a
50	POLR2A	chr9:115789317-115789517	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:115815065-115815115	SAEC	small airway:	n/a
2	chr9:115815065-115815115	K562	blood:	n/a
3	chr9:115815065-115815115	GM12891	blood:	n/a
4	chr9:115815065-115815115	ECC-1	luminal epithelium:	n/a
5	chr9:115815065-115815115	BJ	skin:	n/a
6	chr9:115815065-115815115	HPAEpiC	pulmonary alveolar:	n/a
7	chr9:115815065-115815115	GM06990	blood:	n/a
8	chr9:115815065-115815115	AG04449	skin:	fetal
9	chr9:115815065-115815115	SKMC	muscle:	n/a
10	chr9:115815065-115815115	LNCaP	prostate:	n/a
11	chr9:115815065-115815115	HAEpiC	amniotic membrane:	n/a
12	chr9:115815065-115815115	Hela-S3	cervix:	n/a
13	chr9:115815065-115815115	AG09309	skin:	n/a
14	chr9:115815065-115815115	Jurkat	blood:	n/a
15	chr9:115815065-115815115	ProgFib	skin:	n/a
16	chr9:115815065-115815115	HEEpiC	esophagus:	n/a
17	chr9:115815065-115815115	IMR90	lung:	fetal
18	chr9:115815065-115815115	Caco-2	colon:	n/a
19	chr9:115815065-115815115	HCPEpiC	choroid plexus:	n/a
20	chr9:115815065-115815115	SK-N-MC	brain:	n/a
21	chr9:115815065-115815115	BE2_C	brain:	n/a
22	chr9:115815065-115815115	NHBE	bronchial:	n/a
23	chr9:115815065-115815115	MCF-7	breast:	n/a
24	chr9:115815065-115815115	SK-N-SH	brain:	n/a
25	chr9:115815065-115815115	HRCEpiC	kidney:	n/a
26	chr9:115815065-115815115	HCF	heart:	n/a
27	chr9:115815065-115815115	H1-hESC	embryonic stem cell:	embryo
28	chr9:115815065-115815115	MCF10A-Er-Src	breast:	n/a
29	chr9:115815065-115815115	GM19239	blood:	n/a
30	chr9:115815065-115815115	Hepatocyte	liver:	n/a
31	chr9:115815065-115815115	HRPEpiC	eye:	n/a
32	chr9:115815065-115815115	PANC-1	pancreas:	n/a
33	chr9:115815065-115815115	HL-60	blood:	n/a
34	chr9:115815065-115815115	NT2-D1	testis:	n/a
35	chr9:115815065-115815115	T-47D	breast:	n/a
36	chr9:115815065-115815115	HCT-116	colon:	n/a
37	chr9:115815065-115815115	NB4	blood:	n/a
38	chr9:115815065-115815115	HMEC	breast:	n/a
39	chr9:115815065-115815115	ovcar-3	ovarian:	n/a
40	chr9:115815065-115815115	NHDF-neo	bronchial:	n/a
41	chr9:115815065-115815115	AG10803	skin:	n/a
42	chr9:115815065-115815115	HUVEC	blood vessel:	n/a
43	chr9:115815065-115815115	RPTEC	kidney:	n/a
44	chr9:115815065-115815115	HNPCEpiC	eye:	n/a
45	chr9:115815065-115815115	AG09319	gingival:	n/a
46	chr9:115815065-115815115	CMK	blood:	n/a
47	chr9:115815065-115815115	A549	lung:	n/a
48	chr9:115815065-115815115	HepG2	liver:	n/a
49	chr9:115815065-115815115	GM12892	blood:	n/a
50	chr9:115815065-115815115	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:115785171..115787186-chr9:115793966..115796289,2	K562	blood:
2	chr9:115785171..115787186-chr9:115793966..115796289,2	K562	blood:
3	chr9:115804647..115807614-chr9:115809086..115811153,2	MCF-7	breast:
4	chr9:115804647..115807614-chr9:115809086..115811153,2	MCF-7	breast:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	ZFP37	hsa-miR-320a	chr9:115804743-115804764

Variant related genes	Relation type
ZNF883	TF binding region
ZNF883	CpG island

Extended variants
information (count: 916 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1570756	chr9:115775168-115775169	Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551637569	chr9:115775200-115775201	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565568927	chr9:115775213-115775214	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs150786682	chr9:115775264-115775265	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs569946372	chr9:115775277-115775278	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs10981598	chr9:115775319-115775320	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs557710202	chr9:115775327-115775328	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs368916746	chr9:115775340-115775341	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566540685	chr9:115775349-115775350	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs10759618	chr9:115775359-115775360	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs536288076	chr9:115775363-115775364	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs553419218	chr9:115775364-115775365	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs573300652	chr9:115775398-115775399	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2182047	chr9:115775423-115775424	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs565763041	chr9:115775433-115775434	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs557488049	chr9:115775447-115775448	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs573888436	chr9:115775530-115775531	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs577429590	chr9:115775558-115775559	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs543284695	chr9:115775583-115775584	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs139193714	chr9:115775689-115775690	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs538138401	chr9:115775699-115775700	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs528865074	chr9:115775728-115775729	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs2147644	chr9:115775739-115775740	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs559305091	chr9:115775747-115775748	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs188123394	chr9:115776292-115776293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs35456664	chr9:115776294-115776295	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs565733663	chr9:115776306-115776307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs185981838	chr9:115780201-115780202	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs528131382	chr9:115780224-115780225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs7021392	chr9:115780225-115780226	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs117646410	chr9:115780240-115780241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs144309760	chr9:115780259-115780260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs372334978	chr9:115780309-115780310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs191122828	chr9:115780321-115780322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs74307755	chr9:115780329-115780330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs147787419	chr9:115780341-115780342	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs183431836	chr9:115780394-115780395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs542090750	chr9:115780416-115780417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs139551025	chr9:115780450-115780451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs527273920	chr9:115780481-115780482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs113982818	chr9:115780503-115780504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs149832244	chr9:115780506-115780507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs139464121	chr9:115780558-115780559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs374152711	chr9:115780559-115780560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs145804830	chr9:115780566-115780567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs532826364	chr9:115780578-115780579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs369745855	chr9:115780581-115780582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs549489528	chr9:115780589-115780590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs370189666	chr9:115787601-115787602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571702311	chr9:115787621-115787622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115773400-115775200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr9:115773600-115775200	Active TSS	Brain Anterior Caudate	brain
3	chr9:115773600-115775200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr9:115773600-115775200	Active TSS	Brain Substantia Nigra	brain
5	chr9:115773600-115775200	Active TSS	Fetal Brain Female	brain
6	chr9:115773600-115775200	Active TSS	Fetal Lung	lung
7	chr9:115773800-115775200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr9:115773800-115775200	Active TSS	Brain Angular Gyrus	brain
9	chr9:115773800-115775200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr9:115773800-115775200	Active TSS	Ovary	ovary
11	chr9:115774000-115775200	Active TSS	Psoas Muscle	Psoas
12	chr9:115774200-115775200	Active TSS	Brain Germinal Matrix	brain
13	chr9:115774200-115775200	Active TSS	HepG2	liver
14	chr9:115774600-115775800	Active TSS	Right Atrium	heart
15	chr9:115775000-115775200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr9:115775000-115775200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr9:115780200-115780600	ZNF genes & repeats	Liver	Liver
18	chr9:115787600-115788400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr9:115788400-115788600	Enhancers	Osteobl	bone
20	chr9:115789200-115789400	Enhancers	Osteobl	bone
21	chr9:115790800-115791600	ZNF genes & repeats	Liver	Liver
22	chr9:115790800-115791800	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr9:115790800-115791800	ZNF genes & repeats	Brain Hippocampus Middle	brain
24	chr9:115791600-115793000	Weak transcription	Liver	Liver
25	chr9:115791800-115793000	Weak transcription	Adipose Nuclei	Adipose
26	chr9:115791800-115793200	Weak transcription	Brain Hippocampus Middle	brain
27	chr9:115793000-115799200	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr9:115793000-115822200	ZNF genes & repeats	Liver	Liver
29	chr9:115793200-115793800	ZNF genes & repeats	Brain Hippocampus Middle	brain
30	chr9:115793200-115795000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr9:115795800-115817800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:115798800-115818200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr9:115799600-115820400	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr9:115799800-115817600	ZNF genes & repeats	Brain Hippocampus Middle	brain
35	chr9:115799800-115818200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:115800600-115812400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:115801000-115801200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr9:115801600-115808200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr9:115801800-115817400	ZNF genes & repeats	Brain Germinal Matrix	brain
40	chr9:115802000-115818000	ZNF genes & repeats	Brain Anterior Caudate	brain
41	chr9:115802200-115803800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr9:115802200-115812400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr9:115802200-115813400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr9:115802200-115815400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr9:115802400-115814800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
46	chr9:115802400-115815600	ZNF genes & repeats	Brain Substantia Nigra	brain
47	chr9:115802600-115812200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
48	chr9:115803200-115803600	ZNF genes & repeats	Fetal Stomach	stomach
49	chr9:115803200-115803800	ZNF genes & repeats	Left Ventricle	heart
50	chr9:115803200-115813000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet

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