Variant report

Variant	nsv519833
Chromosome Location	chr9:110424575-110430339
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	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
4	STAT3	chr9:110427181-110427292	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:110422278..110425176-chr9:110442669..110445406,2	MCF-7	breast:
2	chr9:110428302..110430698-chr9:110445518..110448185,2	K562	blood:
3	chr9:110425959..110427637-chr9:110435730..110438629,2	MCF-7	breast:
4	chr9:110429198..110431550-chr9:110446685..110449581,2	K562	blood:

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

Extended variants
information (count: 230 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:230 , 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	rs7040614	chr9:110424575-110424576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556179903	chr9:110424716-110424717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574457158	chr9:110424722-110424723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536159940	chr9:110424730-110424731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7027436	chr9:110424737-110424738	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs572593048	chr9:110424739-110424740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35224032	chr9:110424848-110424849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546377308	chr9:110424869-110424870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs193037958	chr9:110424877-110424878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75891122	chr9:110424965-110424966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202024126	chr9:110425057-110425058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28653749	chr9:110425065-110425066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543520895	chr9:110425071-110425072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561765729	chr9:110425124-110425125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529201571	chr9:110425192-110425193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548087132	chr9:110425224-110425225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560004237	chr9:110425307-110425308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7856386	chr9:110425326-110425327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1523782	chr9:110425385-110425386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570487976	chr9:110425390-110425391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537968318	chr9:110425403-110425404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549855534	chr9:110425404-110425405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567048080	chr9:110425417-110425418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568072703	chr9:110425432-110425433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370419294	chr9:110425433-110425434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535435847	chr9:110425434-110425435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113713743	chr9:110425445-110425446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78093348	chr9:110425455-110425456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554553201	chr9:110425478-110425479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1523781	chr9:110425506-110425507	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs80284043	chr9:110425509-110425510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558199600	chr9:110425514-110425515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576529653	chr9:110425526-110425527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76956688	chr9:110425531-110425532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1523780	chr9:110425532-110425533	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs1523779	chr9:110425558-110425559	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182824312	chr9:110425572-110425573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10816546	chr9:110425583-110425584	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187463144	chr9:110425620-110425621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552152977	chr9:110425628-110425629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574394854	chr9:110425633-110425634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192480028	chr9:110425644-110425645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4540459	chr9:110425660-110425661	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553612569	chr9:110425684-110425685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549943418	chr9:110425687-110425688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568159966	chr9:110425733-110425734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374794555	chr9:110425774-110425775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535472845	chr9:110425777-110425778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10759246	chr9:110425795-110425796	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs536463995	chr9:110425823-110425824	Enhancers Weak transcription	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:43 , 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	chr9:110425400-110426000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:110425400-110426000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr9:110425800-110426200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr9:110426000-110435600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:110427200-110427400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:110427200-110427600	Enhancers	HSMMtube	muscle
8	chr9:110427200-110427600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr9:110427400-110427600	Enhancers	Fetal Stomach	stomach
10	chr9:110427600-110429200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr9:110427600-110429600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:110427600-110429600	Weak transcription	HSMMtube	muscle
13	chr9:110429200-110429800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr9:110429200-110429800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr9:110429200-110430600	Enhancers	Fetal Muscle Trunk	muscle
16	chr9:110429200-110430600	Enhancers	Fetal Muscle Leg	muscle
17	chr9:110429400-110429800	Enhancers	Right Atrium	heart
18	chr9:110429400-110430000	Enhancers	Placenta	Placenta
19	chr9:110429400-110430000	Enhancers	Spleen	Spleen
20	chr9:110429400-110430400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:110429400-110430400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr9:110429400-110430400	Enhancers	Fetal Lung	lung
23	chr9:110429400-110430400	Enhancers	Fetal Stomach	stomach
24	chr9:110429400-110430600	Enhancers	Brain Hippocampus Middle	brain
25	chr9:110429400-110430600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr9:110429600-110430000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:110429600-110430200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:110429600-110430200	Enhancers	Brain Cingulate Gyrus	brain
29	chr9:110429600-110430400	Enhancers	Brain Angular Gyrus	brain
30	chr9:110429600-110430400	Enhancers	HSMMtube	muscle
31	chr9:110429600-110430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:110429600-110430600	Enhancers	Adipose Nuclei	Adipose
33	chr9:110429600-110430600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr9:110429600-110430600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr9:110429600-110430600	Enhancers	Brain Substantia Nigra	brain
36	chr9:110429600-110430800	Enhancers	HUVEC	blood vessel
37	chr9:110429600-110431200	Enhancers	Left Ventricle	heart
38	chr9:110429800-110430200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:110429800-110430200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:110429800-110430400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr9:110429800-110430400	Enhancers	Stomach Smooth Muscle	stomach
42	chr9:110429800-110430400	Enhancers	HSMM	muscle
43	chr9:110430200-110430600	Flanking Active TSS	Brain Cingulate Gyrus	brain

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