Variant report

Variant	nsv1036417
Chromosome Location	chr9:103478028-103509840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:60)
CpG islands
(count:62)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:60 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr9:103501939-103502232	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr9:103483055-103483554	IMR90	lung:	n/a	n/a
3	CTCF	chr9:103498378-103498448	Lung_OC	lung:	n/a	n/a
4	CTCF	chr9:103496379-103496443	GM13977	blood:	n/a	n/a
5	FOS	chr9:103501975-103502289	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr9:103502050-103502250	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr9:103502057-103502276	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr9:103501977-103502282	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr9:103478719-103478823	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL2	chr9:103501845-103502161	HepG2	liver:	n/a	n/a
11	FOSL2	chr9:103501578-103501915	MCF-7	breast:	n/a	n/a
12	FOSL2	chr9:103501987-103502206	HepG2	liver:	n/a	n/a
13	GATA2	chr9:103492235-103492650	SH-SY5Y	brain:	n/a	chr9:103492239-103492247
14	GATA3	chr9:103492105-103492546	SH-SY5Y	brain:	n/a	chr9:103492239-103492247
15	HEY1	chr9:103494065-103494263	K562	blood:	n/a	n/a
16	MAFF	chr9:103491799-103491877	K562	blood:	n/a	n/a
17	MAFK	chr9:103501947-103502246	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAFK	chr9:103490469-103490555	HepG2	liver:	n/a	chr9:103490501-103490521 chr9:103490503-103490519 chr9:103490500-103490515 chr9:103490504-103490518
19	MAFK	chr9:103491758-103491966	HepG2	liver:	n/a	chr9:103491876-103491887 chr9:103491875-103491891 chr9:103491874-103491888 chr9:103491876-103491887 chr9:103491875-103491886 chr9:103491875-103491886
20	MAFK	chr9:103490391-103490618	HepG2	liver:	n/a	chr9:103490501-103490521 chr9:103490503-103490519 chr9:103490500-103490515 chr9:103490504-103490518
21	MAX	chr9:103481003-103481372	NB4	blood:	n/a	chr9:103481210-103481220
22	MAX	chr9:103481111-103481271	A549	lung:	n/a	chr9:103481210-103481220
23	MAX	chr9:103481061-103481309	H1-hESC	embryonic stem cell:	n/a	chr9:103481210-103481220
24	MYC	chr9:103494065-103494072	MCF-7	breast:	n/a	n/a
25	MYC	chr9:103494104-103494109	MCF-7	breast:	n/a	n/a
26	MYC	chr9:103493955-103494033	MCF-7	breast:	n/a	n/a
27	MYC	chr9:103493919-103494042	MCF-7	breast:	n/a	n/a
28	POLR2A	chr9:103494087-103494199	ProgFib	skin:	n/a	n/a
29	POLR2A	chr9:103493523-103493616	MCF-7	breast:	n/a	n/a
30	POLR2A	chr9:103493449-103493654	MCF-7	breast:	n/a	n/a
31	POLR2A	chr9:103490157-103490345	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr9:103493486-103493492	MCF-7	breast:	n/a	n/a
33	POLR2A	chr9:103493715-103494198	MCF-7	breast:	n/a	n/a
34	POLR2A	chr9:103494274-103494293	Gliobla	brain:	n/a	n/a
35	POLR2A	chr9:103494396-103494429	Gliobla	brain:	n/a	n/a
36	POLR2A	chr9:103493960-103494284	GM12878	blood:	n/a	n/a
37	POLR2A	chr9:103504044-103504070	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr9:103493720-103493924	MCF-7	breast:	n/a	n/a
39	POLR2A	chr9:103483371-103483374	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr9:103493952-103494335	MCF-7	breast:	n/a	n/a
41	POLR2A	chr9:103481202-103481281	MCF-7	breast:	n/a	n/a
42	POLR2A	chr9:103480977-103480995	Gliobla	brain:	n/a	n/a
43	POLR2A	chr9:103493690-103493701	MCF-7	breast:	n/a	n/a
44	POLR2A	chr9:103495078-103495115	ProgFib	skin:	n/a	n/a
45	POLR2A	chr9:103493509-103493517	MCF-7	breast:	n/a	n/a
46	POLR2A	chr9:103494082-103494231	GM12878	blood:	n/a	n/a
47	POLR2A	chr9:103494118-103494189	A549	lung:	n/a	n/a
48	POLR2A	chr9:103493946-103493950	MCF-7	breast:	n/a	n/a
49	POLR2A	chr9:103481314-103481365	GM12878	blood:	n/a	n/a
50	POLR2A	chr9:103493898-103494192	A549	lung:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:103493536-103493586	HCF	heart:	n/a
2	chr9:103493536-103493586	HCF	heart:	n/a
3	chr9:103493536-103493586	HL-60	blood:	n/a
4	chr9:103493536-103493586	SAEC	small airway:	n/a
5	chr9:103493536-103493586	NH-A	brain:	n/a
6	chr9:103493536-103493586	NB4	blood:	n/a
7	chr9:103493536-103493586	HEEpiC	esophagus:	n/a
8	chr9:103493536-103493586	GM19239	blood:	n/a
9	chr9:103493536-103493586	ProgFib	skin:	n/a
10	chr9:103493536-103493586	NHDF-neo	bronchial:	n/a
11	chr9:103493536-103493586	NT2-D1	testis:	n/a
12	chr9:103493536-103493586	HNPCEpiC	eye:	n/a
13	chr9:103493536-103493586	GM12891	blood:	n/a
14	chr9:103493536-103493586	PANC-1	pancreas:	n/a
15	chr9:103493536-103493586	RPTEC	kidney:	n/a
16	chr9:103493536-103493586	HEK293	kidney:	embryo
17	chr9:103493536-103493586	SK-N-SH_RA	brain:	n/a
18	chr9:103493536-103493586	SK-N-SH	brain:	n/a
19	chr9:103493536-103493586	HCPEpiC	choroid plexus:	n/a
20	chr9:103493536-103493586	GM06990	blood:	n/a
21	chr9:103493536-103493586	U87	brain:	n/a
22	chr9:103493536-103493586	BE2_C	brain:	n/a
23	chr9:103493536-103493586	MCF10A-Er-Src	breast:	n/a
24	chr9:103493536-103493586	SK-N-MC	brain:	n/a
25	chr9:103493536-103493586	SKMC	muscle:	n/a
26	chr9:103493536-103493586	AG09319	gingival:	n/a
27	chr9:103493536-103493586	T-47D	breast:	n/a
28	chr9:103493536-103493586	BJ	skin:	n/a
29	chr9:103493536-103493586	HRE	kidney:	n/a
30	chr9:103493536-103493586	ovcar-3	ovarian:	n/a
31	chr9:103493536-103493586	GM12892	blood:	n/a
32	chr9:103493536-103493586	AG04450	lung:	fetal
33	chr9:103493536-103493586	HPAEpiC	pulmonary alveolar:	n/a
34	chr9:103493536-103493586	AoSMC	blood vessel:	n/a
35	chr9:103493536-103493586	K562	blood:	n/a
36	chr9:103493536-103493586	AG10803	skin:	n/a
37	chr9:103493536-103493586	H1-hESC	embryonic stem cell:	embryo
38	chr9:103493536-103493586	HCM	heart:	n/a
39	chr9:103493536-103493586	GM12878	blood:	n/a
40	chr9:103493536-103493586	A549	lung:	n/a
41	chr9:103493536-103493586	AG04449	skin:	fetal
42	chr9:103493536-103493586	HUVEC	blood vessel:	n/a
43	chr9:103493536-103493586	HMEC	breast:	n/a
44	chr9:103493536-103493586	AG09309	skin:	n/a
45	chr9:103493536-103493586	NHBE	bronchial:	n/a
46	chr9:103493536-103493586	HepG2	liver:	n/a
47	chr9:103493536-103493586	HCT-116	colon:	n/a
48	chr9:103493536-103493586	HRCEpiC	kidney:	n/a
49	chr9:103493536-103493586	LNCaP	prostate:	n/a
50	chr9:103493536-103493586	ECC-1	luminal epithelium:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:103479629..103481614-chr9:103484023..103486115,2	K562	blood:
2	chr9:103479629..103481614-chr9:103484023..103486115,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237999	TF binding region
ENSG00000237999	CpG island

Extended variants
information (count: 849 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:849 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562591860	chr9:103478034-103478035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531283503	chr9:103478044-103478045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35305355	chr9:103478091-103478092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143273228	chr9:103478109-103478110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146485099	chr9:103478111-103478112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs33989788	chr9:103478112-103478113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7872211	chr9:103478113-103478114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551402370	chr9:103478115-103478116	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71498752	chr9:103478123-103478124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372000082	chr9:103478125-103478126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10122010	chr9:103478137-103478138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534475466	chr9:103478138-103478139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78603213	chr9:103478174-103478175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554926075	chr9:103478176-103478177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548105739	chr9:103478185-103478186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78668164	chr9:103478191-103478192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567726503	chr9:103478196-103478197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111288226	chr9:103478268-103478269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569809052	chr9:103478273-103478274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556568421	chr9:103478275-103478276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112848705	chr9:103478302-103478303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556337727	chr9:103478318-103478319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569824357	chr9:103478329-103478330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140684137	chr9:103478372-103478373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558525285	chr9:103478382-103478383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572136283	chr9:103478395-103478396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187663369	chr9:103478428-103478429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373989812	chr9:103478438-103478439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574472416	chr9:103478470-103478471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542807876	chr9:103478472-103478473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74306878	chr9:103478505-103478506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150091652	chr9:103478545-103478546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113206451	chr9:103478604-103478605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375118133	chr9:103478648-103478649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545155335	chr9:103478671-103478672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7860644	chr9:103478672-103478673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs76403779	chr9:103478686-103478687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547745709	chr9:103478744-103478745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567622711	chr9:103478814-103478815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567954243	chr9:103478862-103478863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59297169	chr9:103478863-103478864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs111255777	chr9:103478892-103478893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192147380	chr9:103478896-103478897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536385256	chr9:103478983-103478984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185024165	chr9:103479042-103479043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558659351	chr9:103479066-103479067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138699551	chr9:103479085-103479086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535036977	chr9:103479140-103479141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114385221	chr9:103479161-103479162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189410414	chr9:103479232-103479233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	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
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103477800-103478200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr9:103477800-103478200	Enhancers	Fetal Brain Male	brain
3	chr9:103478000-103481000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr9:103482800-103483600	Enhancers	Fetal Lung	lung
5	chr9:103485400-103486200	Enhancers	Fetal Muscle Leg	muscle
6	chr9:103485800-103486600	Enhancers	Brain Substantia Nigra	brain
7	chr9:103486000-103488200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr9:103486200-103491600	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:103486600-103491600	Weak transcription	Brain Substantia Nigra	brain
10	chr9:103487000-103487600	Enhancers	Brain Germinal Matrix	brain
11	chr9:103487000-103488000	Enhancers	HSMMtube	muscle
12	chr9:103487600-103490600	Weak transcription	Brain Germinal Matrix	brain
13	chr9:103488200-103488600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr9:103488600-103488800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr9:103488800-103490600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr9:103490600-103491800	Enhancers	Brain Germinal Matrix	brain
17	chr9:103490600-103493200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:103491600-103491800	Enhancers	Fetal Muscle Leg	muscle
19	chr9:103491600-103492400	Enhancers	Brain Hippocampus Middle	brain
20	chr9:103491600-103493000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr9:103491600-103493200	Enhancers	Brain Substantia Nigra	brain
22	chr9:103492000-103492800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr9:103492000-103493000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr9:103492200-103492600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr9:103492200-103492800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr9:103492200-103492800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr9:103492200-103493000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr9:103492200-103493000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr9:103492400-103492800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr9:103492400-103492800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr9:103492400-103492800	Enhancers	Brain Angular Gyrus	brain
32	chr9:103492400-103493000	Weak transcription	Brain Hippocampus Middle	brain
33	chr9:103493000-103493200	Enhancers	Brain Hippocampus Middle	brain
34	chr9:103493000-103493400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr9:103493400-103493600	Enhancers	Esophagus	oesophagus
36	chr9:103493400-103494200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:103493600-103494200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:103494200-103501600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:103501200-103502400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr9:103501200-103502800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr9:103501400-103502400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr9:103501400-103502600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr9:103501600-103502000	Enhancers	H9 Cell Line	embryonic stem cell
44	chr9:103501600-103502000	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr9:103501600-103502000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:103501600-103502000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:103501600-103502200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr9:103501600-103502200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:103501600-103502400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr9:103501800-103502200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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