Variant report

Variant	nsv1036387
Chromosome Location	chr9:104503439-104526858
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	BRCA1	chr9:104525751-104525924	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr9:104520633-104520833	A549	lung:	n/a	chr9:104520734-104520745 chr9:104520733-104520744
3	CEBPB	chr9:104520587-104520900	HepG2	liver:	n/a	chr9:104520734-104520745 chr9:104520733-104520744
4	CTCF	chr9:104517170-104517242	Fibrobl	skin:	n/a	n/a
5	CTCF	chr9:104510280-104510430	GM12867	blood:	n/a	n/a
6	E2F4	chr9:104521808-104522008	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr9:104515809-104515910	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr9:104515779-104515946	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr9:104515776-104515990	MCF10A-Er-Src	breast:	n/a	n/a
10	JUN	chr9:104506161-104506201	H1-hESC	embryonic stem cell:	n/a	n/a
11	KAP1	chr9:104521625-104521875	K562	blood:	n/a	n/a
12	MAX	chr9:104525592-104525676	NB4	blood:	n/a	chr9:104525642-104525649 chr9:104525640-104525650
13	MYC	chr9:104504883-104505012	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr9:104513783-104513877	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr9:104524928-104524932	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr9:104506005-104506036	MCF10A-Er-Src	breast:	n/a	n/a
17	RFX5	chr9:104521227-104521277	GM12878	blood:	n/a	n/a
18	STAT3	chr9:104515806-104515990	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr9:104521009-104521177	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr9:104515829-104515937	MCF10A-Er-Src	breast:	n/a	n/a
21	TEAD4	chr9:104508337-104508748	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
GRIN3A	TF binding region

Extended variants
information (count: 429 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114942652	chr9:104504883-104504884	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs538205758	chr9:104504914-104504915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs188062900	chr9:104504924-104504925	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs578109186	chr9:104505008-104505009	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs569173792	chr9:104508019-104508020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536273861	chr9:104508045-104508046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563387679	chr9:104508065-104508066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550952186	chr9:104508092-104508093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532459806	chr9:104508099-104508100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188418021	chr9:104508111-104508112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552673038	chr9:104508164-104508165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559669211	chr9:104508165-104508166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192823784	chr9:104508181-104508182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141158071	chr9:104508182-104508183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1361103	chr9:104509002-104509003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs62582206	chr9:104509039-104509040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532915855	chr9:104509111-104509112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75546169	chr9:104509163-104509164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545181526	chr9:104509166-104509167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199588206	chr9:104509167-104509168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10819985	chr9:104515222-104515223	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541765370	chr9:104515308-104515309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73504972	chr9:104515381-104515382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34489699	chr9:104515445-104515446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555809177	chr9:104515522-104515523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574460112	chr9:104515571-104515572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369388587	chr9:104515633-104515634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563757195	chr9:104515636-104515637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532510927	chr9:104515642-104515643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113914865	chr9:104515664-104515665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559743226	chr9:104515703-104515704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78163977	chr9:104515831-104515832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548933468	chr9:104515832-104515833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568785107	chr9:104515851-104515852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530488196	chr9:104515854-104515855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192403277	chr9:104515899-104515900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117305529	chr9:104515904-104515905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28731330	chr9:104515919-104515920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs372218395	chr9:104516011-104516012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553126684	chr9:104516055-104516056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78528406	chr9:104516079-104516080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535285626	chr9:104516136-104516137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138280909	chr9:104516181-104516182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570849274	chr9:104516228-104516229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377611462	chr9:104516234-104516235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141902223	chr9:104516314-104516315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs577266814	chr9:104516327-104516328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546009171	chr9:104516332-104516333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559881957	chr9:104516420-104516421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528662976	chr9:104516430-104516431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
Neuroblastoma	20406844	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104508000-104508200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr9:104509000-104509200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr9:104515200-104516400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:104515400-104516400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:104515600-104516000	Enhancers	Ovary	ovary
6	chr9:104515800-104516200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:104516400-104520600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:104519600-104521000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:104520600-104521600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:104520800-104521400	Enhancers	Colon Smooth Muscle	Colon
11	chr9:104520800-104521800	Enhancers	Adipose Nuclei	Adipose
12	chr9:104521000-104521400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:104521400-104522400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:104521800-104525800	Weak transcription	Adipose Nuclei	Adipose
15	chr9:104525800-104526200	Enhancers	Adipose Nuclei	Adipose
16	chr9:104526400-104527400	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links