Variant report

Variant	esv2655199
Chromosome Location	chr9:110428675-110431139
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	E2F6	chr9:110430066-110430180	K562	blood:	n/a	chr9:110430125-110430132 chr9:110430124-110430136 chr9:110430125-110430132 chr9:110430125-110430132
2	MYC	chr9:110430058-110430236	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr9:110430371-110430435	MCF-7	breast:	n/a	n/a
4	PRDM1	chr9:110429517-110429674	Hela-S3	cervix:	n/a	chr9:110429550-110429564 chr9:110429578-110429591 chr9:110429576-110429591 chr9:110429577-110429591 chr9:110429551-110429560 chr9:110429549-110429564
5	TEAD4	chr9:110431045-110431429	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:110429198..110431550-chr9:110446685..110449581,2	K562	blood:
2	chr9:110428302..110430698-chr9:110445518..110448185,2	K562	blood:

Variant related genes	Relation type
RNU6-996P	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530147184	chr9:110428687-110428688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73653616	chr9:110428692-110428693	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566824793	chr9:110428695-110428696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534634706	chr9:110428700-110428701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151020920	chr9:110428701-110428702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571362569	chr9:110428756-110428757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570709200	chr9:110428776-110428777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58863066	chr9:110428782-110428783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12347467	chr9:110428793-110428794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568078931	chr9:110428839-110428840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542279394	chr9:110428853-110428854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12347544	chr9:110428866-110428867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs553490256	chr9:110428873-110428874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150128492	chr9:110428880-110428881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73653617	chr9:110428917-110428918	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs375834412	chr9:110429009-110429010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12347609	chr9:110429012-110429013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs386737372	chr9:110429022-110429023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12352414	chr9:110429023-110429024	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs57493017	chr9:110429028-110429029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142831754	chr9:110429061-110429062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548675057	chr9:110429064-110429065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566757016	chr9:110429117-110429118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527644450	chr9:110429143-110429144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546618384	chr9:110429146-110429147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571496773	chr9:110429149-110429150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538479547	chr9:110429162-110429163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556751850	chr9:110429170-110429171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568681986	chr9:110429218-110429219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12347622	chr9:110429220-110429221	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554605806	chr9:110429221-110429222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572788002	chr9:110429243-110429244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543270336	chr9:110429246-110429247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111959360	chr9:110429271-110429272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569323015	chr9:110429277-110429278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559017589	chr9:110429308-110429309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138804294	chr9:110429325-110429326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544888366	chr9:110429395-110429396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187337520	chr9:110429399-110429400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190537034	chr9:110429408-110429409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78395016	chr9:110429451-110429452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs368207438	chr9:110429569-110429570	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs112014051	chr9:110429605-110429606	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs77233150	chr9:110429664-110429665	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs552528310	chr9:110429729-110429730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10978984	chr9:110429788-110429789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs531610947	chr9:110429850-110429851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149361257	chr9:110429886-110429887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568718983	chr9:110429905-110429906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183069827	chr9:110429906-110429907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110413000-110437000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:110426000-110435600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:110427600-110429200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr9:110427600-110429600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:110427600-110429600	Weak transcription	HSMMtube	muscle
6	chr9:110429200-110429800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr9:110429200-110429800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr9:110429200-110430600	Enhancers	Fetal Muscle Trunk	muscle
9	chr9:110429200-110430600	Enhancers	Fetal Muscle Leg	muscle
10	chr9:110429400-110429800	Enhancers	Right Atrium	heart
11	chr9:110429400-110430000	Enhancers	Placenta	Placenta
12	chr9:110429400-110430000	Enhancers	Spleen	Spleen
13	chr9:110429400-110430400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:110429400-110430400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr9:110429400-110430400	Enhancers	Fetal Lung	lung
16	chr9:110429400-110430400	Enhancers	Fetal Stomach	stomach
17	chr9:110429400-110430600	Enhancers	Brain Hippocampus Middle	brain
18	chr9:110429400-110430600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr9:110429600-110430000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:110429600-110430200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:110429600-110430200	Enhancers	Brain Cingulate Gyrus	brain
22	chr9:110429600-110430400	Enhancers	Brain Angular Gyrus	brain
23	chr9:110429600-110430400	Enhancers	HSMMtube	muscle
24	chr9:110429600-110430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:110429600-110430600	Enhancers	Adipose Nuclei	Adipose
26	chr9:110429600-110430600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr9:110429600-110430600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:110429600-110430600	Enhancers	Brain Substantia Nigra	brain
29	chr9:110429600-110430800	Enhancers	HUVEC	blood vessel
30	chr9:110429600-110431200	Enhancers	Left Ventricle	heart
31	chr9:110429800-110430200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:110429800-110430200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:110429800-110430400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr9:110429800-110430400	Enhancers	Stomach Smooth Muscle	stomach
35	chr9:110429800-110430400	Enhancers	HSMM	muscle
36	chr9:110430200-110430600	Flanking Active TSS	Brain Cingulate Gyrus	brain
37	chr9:110430400-110435800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr9:110430600-110431800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr9:110430600-110436200	Weak transcription	Fetal Muscle Leg	muscle

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