Variant report

Variant	nsv6640
Chromosome Location	chr9:103490827-103535653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:62)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr9:103533962-103534014	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr9:103501939-103502232	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr9:103511380-103511530	HEK293	kidney:	n/a	n/a
4	CTCF	chr9:103498378-103498448	Lung_OC	lung:	n/a	n/a
5	CTCF	chr9:103511380-103511530	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr9:103511380-103511530	MCF-7	breast:	n/a	n/a
7	CTCF	chr9:103496379-103496443	GM13977	blood:	n/a	n/a
8	FOS	chr9:103518672-103518858	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr9:103502057-103502276	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr9:103501975-103502289	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr9:103502050-103502250	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr9:103501977-103502282	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr9:103518693-103518848	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr9:103518679-103518760	MCF10A-Er-Src	breast:	n/a	n/a
15	FOSL2	chr9:103501987-103502206	HepG2	liver:	n/a	n/a
16	FOSL2	chr9:103501578-103501915	MCF-7	breast:	n/a	n/a
17	FOSL2	chr9:103501845-103502161	HepG2	liver:	n/a	n/a
18	GATA2	chr9:103492235-103492650	SH-SY5Y	brain:	n/a	chr9:103492239-103492247
19	GATA2	chr9:103521522-103521946	SH-SY5Y	brain:	n/a	chr9:103521698-103521707
20	GATA3	chr9:103521548-103521933	SH-SY5Y	brain:	n/a	chr9:103521698-103521707
21	GATA3	chr9:103519299-103519363	SH-SY5Y	brain:	n/a	n/a
22	GATA3	chr9:103492105-103492546	SH-SY5Y	brain:	n/a	chr9:103492239-103492247
23	HEY1	chr9:103494065-103494263	K562	blood:	n/a	n/a
24	MAFF	chr9:103491799-103491877	K562	blood:	n/a	n/a
25	MAFK	chr9:103501947-103502246	H1-hESC	embryonic stem cell:	n/a	n/a
26	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
27	MAX	chr9:103531278-103531355	NB4	blood:	n/a	chr9:103531317-103531327
28	MYC	chr9:103493955-103494033	MCF-7	breast:	n/a	n/a
29	MYC	chr9:103493919-103494042	MCF-7	breast:	n/a	n/a
30	MYC	chr9:103494104-103494109	MCF-7	breast:	n/a	n/a
31	MYC	chr9:103494065-103494072	MCF-7	breast:	n/a	n/a
32	NFIC	chr9:103518514-103518866	ECC-1	luminal epithelium:	n/a	chr9:103518729-103518746 chr9:103518685-103518713 chr9:103518730-103518746
33	POLR2A	chr9:103494082-103494231	GM12878	blood:	n/a	n/a
34	POLR2A	chr9:103511473-103511530	MCF-7	breast:	n/a	n/a
35	POLR2A	chr9:103493943-103494063	Gliobla	brain:	n/a	n/a
36	POLR2A	chr9:103494396-103494429	Gliobla	brain:	n/a	n/a
37	POLR2A	chr9:103493952-103494335	MCF-7	breast:	n/a	n/a
38	POLR2A	chr9:103493720-103493924	MCF-7	breast:	n/a	n/a
39	POLR2A	chr9:103493486-103493492	MCF-7	breast:	n/a	n/a
40	POLR2A	chr9:103493690-103493701	MCF-7	breast:	n/a	n/a
41	POLR2A	chr9:103511449-103511469	MCF-7	breast:	n/a	n/a
42	POLR2A	chr9:103511436-103511445	MCF-7	breast:	n/a	n/a
43	POLR2A	chr9:103493625-103493714	MCF-7	breast:	n/a	n/a
44	POLR2A	chr9:103532985-103533338	H1-neurons	neurons:	n/a	n/a
45	POLR2A	chr9:103493715-103494198	MCF-7	breast:	n/a	n/a
46	POLR2A	chr9:103493523-103493616	MCF-7	breast:	n/a	n/a
47	POLR2A	chr9:103494025-103494251	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr9:103494441-103494474	Gliobla	brain:	n/a	n/a
49	POLR2A	chr9:103494087-103494199	ProgFib	skin:	n/a	n/a
50	POLR2A	chr9:103511426-103511435	MCF-7	breast:	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	ProgFib	skin:	n/a
2	chr9:103493536-103493586	ProgFib	skin:	n/a
3	chr9:103493536-103493586	HCPEpiC	choroid plexus:	n/a
4	chr9:103493536-103493586	ovcar-3	ovarian:	n/a
5	chr9:103493536-103493586	H1-hESC	embryonic stem cell:	embryo
6	chr9:103493536-103493586	PANC-1	pancreas:	n/a
7	chr9:103493536-103493586	GM06990	blood:	n/a
8	chr9:103493536-103493586	AoSMC	blood vessel:	n/a
9	chr9:103493536-103493586	PFSK-1	brain:	n/a
10	chr9:103493536-103493586	HRPEpiC	eye:	n/a
11	chr9:103493536-103493586	CMK	blood:	n/a
12	chr9:103493536-103493586	IMR90	lung:	fetal
13	chr9:103493536-103493586	PrEC	prostate:	n/a
14	chr9:103493536-103493586	HNPCEpiC	eye:	n/a
15	chr9:103493536-103493586	HRE	kidney:	n/a
16	chr9:103493536-103493586	A549	lung:	n/a
17	chr9:103493536-103493586	ECC-1	luminal epithelium:	n/a
18	chr9:103493536-103493586	AG04450	lung:	fetal
19	chr9:103493536-103493586	HEK293	kidney:	embryo
20	chr9:103493536-103493586	HRCEpiC	kidney:	n/a
21	chr9:103493536-103493586	HMEC	breast:	n/a
22	chr9:103493536-103493586	MCF10A-Er-Src	breast:	n/a
23	chr9:103493536-103493586	BJ	skin:	n/a
24	chr9:103493536-103493586	NT2-D1	testis:	n/a
25	chr9:103493536-103493586	NH-A	brain:	n/a
26	chr9:103493536-103493586	NB4	blood:	n/a
27	chr9:103493536-103493586	Hepatocyte	liver:	n/a
28	chr9:103493536-103493586	SK-N-MC	brain:	n/a
29	chr9:103493536-103493586	SKMC	muscle:	n/a
30	chr9:103493536-103493586	MCF-7	breast:	n/a
31	chr9:103493536-103493586	U87	brain:	n/a
32	chr9:103493536-103493586	K562	blood:	n/a
33	chr9:103493536-103493586	HCF	heart:	n/a
34	chr9:103493536-103493586	GM12878	blood:	n/a
35	chr9:103493536-103493586	GM12891	blood:	n/a
36	chr9:103493536-103493586	HL-60	blood:	n/a
37	chr9:103493536-103493586	HAEpiC	amniotic membrane:	n/a
38	chr9:103493536-103493586	SK-N-SH_RA	brain:	n/a
39	chr9:103493536-103493586	HCM	heart:	n/a
40	chr9:103493536-103493586	NHDF-neo	bronchial:	n/a
41	chr9:103493536-103493586	AG09319	gingival:	n/a
42	chr9:103493536-103493586	SAEC	small airway:	n/a
43	chr9:103493536-103493586	BE2_C	brain:	n/a
44	chr9:103493536-103493586	RPTEC	kidney:	n/a
45	chr9:103493536-103493586	AG04449	skin:	fetal
46	chr9:103493536-103493586	HEEpiC	esophagus:	n/a
47	chr9:103493536-103493586	HUVEC	blood vessel:	n/a
48	chr9:103493536-103493586	Hela-S3	cervix:	n/a
49	chr9:103493536-103493586	HPAEpiC	pulmonary alveolar:	n/a
50	chr9:103493536-103493586	Jurkat	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:103534217..103535981-chr9:103542899..103544522,2	K562	blood:
2	chr9:103520193..103521741-chr9:103522245..103524807,2	MCF-7	breast:
3	chr9:103520193..103521741-chr9:103522245..103524807,2	MCF-7	breast:

No data

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

Extended variants
information (count: 567 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:567 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143171342	chr9:103490840-103490841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9299341	chr9:103490884-103490885	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs118186494	chr9:103490890-103490891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549394130	chr9:103490915-103490916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563384080	chr9:103490930-103490931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545636768	chr9:103490947-103490948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372635715	chr9:103490976-103490977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528017995	chr9:103490998-103490999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541223584	chr9:103491049-103491050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4237199	chr9:103491071-103491072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530121182	chr9:103491100-103491101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs147512257	chr9:103491113-103491114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532077673	chr9:103491145-103491146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557218593	chr9:103491154-103491155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570007598	chr9:103491167-103491168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532402781	chr9:103491202-103491203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57746575	chr9:103491314-103491315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369519572	chr9:103491315-103491316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397705497	chr9:103491324-103491325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547064403	chr9:103491339-103491340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571553093	chr9:103491377-103491378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534126196	chr9:103491448-103491449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73497675	chr9:103491490-103491491	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs183960661	chr9:103491520-103491521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536317509	chr9:103491606-103491607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4543599	chr9:103491608-103491609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs557772771	chr9:103491616-103491617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140142746	chr9:103491635-103491636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539574720	chr9:103491681-103491682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544670054	chr9:103491697-103491698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558571295	chr9:103491728-103491729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572385045	chr9:103491840-103491841	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs190433571	chr9:103491870-103491871	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs181658216	chr9:103491901-103491902	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs556284111	chr9:103491903-103491904	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs369801115	chr9:103491909-103491910	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs551410690	chr9:103491915-103491916	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs561112956	chr9:103492056-103492057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530254860	chr9:103492074-103492075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs398039675	chr9:103492083-103492084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543850370	chr9:103492148-103492149	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs187615854	chr9:103492168-103492169	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs144094406	chr9:103492196-103492197	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs552283601	chr9:103492206-103492207	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs554972709	chr9:103492241-103492242	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs199562583	chr9:103492288-103492289	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs190450022	chr9:103492327-103492328	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs573298987	chr9:103492393-103492394	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs527568967	chr9:103492396-103492397	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs181836663	chr9:103492438-103492439	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103486200-103491600	Weak transcription	Fetal Muscle Leg	muscle
2	chr9:103486600-103491600	Weak transcription	Brain Substantia Nigra	brain
3	chr9:103490600-103491800	Enhancers	Brain Germinal Matrix	brain
4	chr9:103490600-103493200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr9:103491600-103491800	Enhancers	Fetal Muscle Leg	muscle
6	chr9:103491600-103492400	Enhancers	Brain Hippocampus Middle	brain
7	chr9:103491600-103493000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr9:103491600-103493200	Enhancers	Brain Substantia Nigra	brain
9	chr9:103492000-103492800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr9:103492000-103493000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr9:103492200-103492600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:103492200-103492800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:103492200-103492800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr9:103492200-103493000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr9:103492200-103493000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:103492400-103492800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr9:103492400-103492800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr9:103492400-103492800	Enhancers	Brain Angular Gyrus	brain
19	chr9:103492400-103493000	Weak transcription	Brain Hippocampus Middle	brain
20	chr9:103493000-103493200	Enhancers	Brain Hippocampus Middle	brain
21	chr9:103493000-103493400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:103493400-103493600	Enhancers	Esophagus	oesophagus
23	chr9:103493400-103494200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr9:103493600-103494200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:103494200-103501600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr9:103501200-103502400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:103501200-103502800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr9:103501400-103502400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr9:103501400-103502600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr9:103501600-103502000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr9:103501600-103502000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr9:103501600-103502000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:103501600-103502000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:103501600-103502200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:103501600-103502200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:103501600-103502400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr9:103501800-103502200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:103501800-103502400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr9:103502000-103502600	Enhancers	Placenta	Placenta
40	chr9:103521400-103521800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr9:103521600-103521800	Enhancers	Brain Anterior Caudate	brain
42	chr9:103523000-103524400	Enhancers	Fetal Brain Male	brain
43	chr9:103523200-103524400	Enhancers	Fetal Brain Female	brain
44	chr9:103535000-103537400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr9:103535200-103538000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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