Variant report

Variant	esv3404963
Chromosome Location	chr9:104377931-104382129
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	BATF	chr9:104380995-104381316	GM12878	blood:	n/a	n/a
2	BATF	chr9:104381008-104381267	GM12878	blood:	n/a	n/a
3	MAFF	chr9:104378592-104378835	HepG2	liver:	n/a	n/a
4	MAFF	chr9:104381008-104381265	HepG2	liver:	n/a	chr9:104381122-104381136 chr9:104381116-104381134
5	MAFK	chr9:104378606-104378872	HepG2	liver:	n/a	chr9:104378769-104378780 chr9:104378769-104378780
6	MAFK	chr9:104381003-104381301	IMR90	lung:	n/a	chr9:104381118-104381129 chr9:104381119-104381130 chr9:104381117-104381131 chr9:104381121-104381137 chr9:104381119-104381130 chr9:104381118-104381129 chr9:104381118-104381133 chr9:104381119-104381139 chr9:104381123-104381132 chr9:104381118-104381134
7	MAFK	chr9:104378653-104378856	IMR90	lung:	n/a	chr9:104378769-104378780 chr9:104378769-104378780
8	MAFK	chr9:104381024-104381222	HepG2	liver:	n/a	chr9:104381118-104381129 chr9:104381119-104381130 chr9:104381117-104381131 chr9:104381121-104381137 chr9:104381119-104381130 chr9:104381118-104381129 chr9:104381118-104381133 chr9:104381119-104381139 chr9:104381123-104381132 chr9:104381118-104381134
9	MAFK	chr9:104378696-104378864	HepG2	liver:	n/a	chr9:104378769-104378780 chr9:104378769-104378780
10	MAFK	chr9:104381029-104381297	HepG2	liver:	n/a	chr9:104381118-104381129 chr9:104381119-104381130 chr9:104381117-104381131 chr9:104381121-104381137 chr9:104381119-104381130 chr9:104381118-104381129 chr9:104381118-104381133 chr9:104381119-104381139 chr9:104381123-104381132 chr9:104381118-104381134
11	POLR2A	chr9:104378319-104378434	GM12878	blood:	n/a	n/a
12	RUNX3	chr9:104380928-104381346	GM12878	blood:	n/a	n/a
13	RUNX3	chr9:104380946-104381348	GM12878	blood:	n/a	n/a
14	STAT3	chr9:104378580-104378780	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr9:104378079-104378259	MCF10A-Er-Src	breast:	n/a	chr9:104378124-104378132
16	YY1	chr9:104381072-104381303	GM12892	blood:	n/a	n/a

Variant related genes	Relation type
GRIN3A	TF binding region

Extended variants
information (count: 215 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558593810	chr9:104377933-104377934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191384319	chr9:104377959-104377960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575785780	chr9:104377965-104377966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571447477	chr9:104377979-104377980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10121600	chr9:104378003-104378004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs77121750	chr9:104378030-104378031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150183182	chr9:104378066-104378067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567874843	chr9:104378091-104378092	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs557262517	chr9:104378094-104378095	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs372181988	chr9:104378125-104378126	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs62577382	chr9:104378126-104378127	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs398096561	chr9:104378127-104378128	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs560173054	chr9:104378292-104378293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4743474	chr9:104378305-104378306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs62577383	chr9:104378310-104378311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs10124802	chr9:104378328-104378329	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538003433	chr9:104378341-104378342	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs551290088	chr9:104378373-104378374	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs183625655	chr9:104378403-104378404	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs554624394	chr9:104378444-104378445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75145456	chr9:104378457-104378458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553679618	chr9:104378462-104378463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560243472	chr9:104378469-104378470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10117679	chr9:104378479-104378480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188668558	chr9:104378496-104378497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs58984022	chr9:104378526-104378527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568268930	chr9:104378543-104378544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60523933	chr9:104378547-104378548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575655615	chr9:104378572-104378573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4743475	chr9:104378622-104378623	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564682889	chr9:104378634-104378635	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs149637676	chr9:104378635-104378636	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs201974552	chr9:104378647-104378648	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs540904300	chr9:104378725-104378726	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs58492917	chr9:104378767-104378768	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs13293750	chr9:104378796-104378797	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs74508789	chr9:104378856-104378857	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs138730700	chr9:104378857-104378858	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs72745349	chr9:104378888-104378889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs59550329	chr9:104378897-104378898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs80048885	chr9:104378918-104378919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536943822	chr9:104378921-104378922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs72745350	chr9:104378931-104378932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547282792	chr9:104378946-104378947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184764469	chr9:104378965-104378966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187639826	chr9:104378978-104378979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62577388	chr9:104379021-104379022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs555502929	chr9:104379079-104379080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570847732	chr9:104379097-104379098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76457315	chr9:104379125-104379126	Weak transcription	n/a	n/a	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
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
Recurrent pregnancy loss	19789632	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104362000-104387400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:104380800-104381400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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