Variant report

Variant	nsv524309
Chromosome Location	chr9:72514177-72527688
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72513695..72515625-chr9:72515816..72518282,2	K562	blood:
2	chr9:72513695..72515625-chr9:72515816..72518282,2	K562	blood:
3	chr9:72480266..72482674-chr9:72527396..72529225,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAMDC2-3	chr9:72520870-72521143	NONHSAT131791

Extended variants
information (count: 521 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10868248	chr9:72514177-72514178	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371605059	chr9:72514179-72514180	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs571355818	chr9:72514244-72514245	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs532376514	chr9:72514276-72514277	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186815357	chr9:72514277-72514278	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs547449998	chr9:72514309-72514310	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs190801531	chr9:72514311-72514312	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs539501841	chr9:72514329-72514330	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536422980	chr9:72514338-72514339	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548116543	chr9:72514358-72514359	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs569923745	chr9:72514359-72514360	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs142369987	chr9:72514365-72514366	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs572993579	chr9:72514381-72514382	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558893691	chr9:72514432-72514433	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576866731	chr9:72514441-72514442	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs534618799	chr9:72514473-72514474	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115425756	chr9:72514480-72514481	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs11792799	chr9:72514519-72514520	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs112668159	chr9:72514533-72514534	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs375363430	chr9:72514691-72514692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576674464	chr9:72514717-72514718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543662786	chr9:72514733-72514734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575565122	chr9:72514740-72514741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544640597	chr9:72514770-72514771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576318441	chr9:72514778-72514779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78305274	chr9:72514780-72514781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115688424	chr9:72514884-72514885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559779462	chr9:72514920-72514921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368306850	chr9:72514923-72514924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151268154	chr9:72514936-72514937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548362177	chr9:72514946-72514947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569705014	chr9:72515003-72515004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537259529	chr9:72515046-72515047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183399015	chr9:72515048-72515049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570782071	chr9:72515070-72515071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4744956	chr9:72515078-72515079	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs553038454	chr9:72515080-72515081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79617169	chr9:72515103-72515104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560562821	chr9:72515108-72515109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535245808	chr9:72515112-72515113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140482642	chr9:72515153-72515154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544173792	chr9:72515157-72515158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576523195	chr9:72515159-72515160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543628015	chr9:72515220-72515221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188830080	chr9:72515264-72515265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563791079	chr9:72515268-72515269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61744464	chr9:72515272-72515273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559533828	chr9:72515282-72515283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376649876	chr9:72515341-72515342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548351085	chr9:72515390-72515391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17133270	CNVD
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
Melanoma	22183965	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Autism	21484199	CNVD
Breast cancer	22737080	CNVD
Malignant peripheral nerve sheath tumor	22811580	CNVD
Leprosy	22719964	CNVD
Primary ovarian insufficiency	22879975	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72511800-72514600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:72512000-72515800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr9:72512400-72515600	Enhancers	A549	lung
4	chr9:72512400-72515800	Enhancers	Osteobl	bone
5	chr9:72512400-72516000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:72512600-72515200	Enhancers	Brain Cingulate Gyrus	brain
7	chr9:72512600-72515400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:72512600-72515400	Enhancers	Brain Hippocampus Middle	brain
9	chr9:72512600-72515600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:72512600-72515600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:72512600-72515600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:72512600-72515600	Enhancers	Hela-S3	cervix
13	chr9:72512600-72515800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:72512600-72515800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr9:72512600-72515800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr9:72512600-72515800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:72512600-72515800	Enhancers	HMEC	breast
18	chr9:72512600-72515800	Enhancers	NHDF-Ad	bronchial
19	chr9:72512600-72515800	Enhancers	NHEK	skin
20	chr9:72512800-72515600	Enhancers	Brain Substantia Nigra	brain
21	chr9:72512800-72515600	Enhancers	HSMMtube	muscle
22	chr9:72512800-72515800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:72512800-72515800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:72512800-72515800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:72512800-72515800	Enhancers	HSMM	muscle
26	chr9:72512800-72515800	Enhancers	NH-A	brain
27	chr9:72512800-72515800	Enhancers	NHLF	lung
28	chr9:72513000-72514400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:72513000-72514800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:72513000-72515200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:72513000-72515600	Enhancers	Brain Angular Gyrus	brain
32	chr9:72513000-72515800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:72513000-72515800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:72513200-72515200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:72513400-72514400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr9:72513400-72514600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:72513400-72515400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:72513800-72514200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr9:72513800-72515600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr9:72514000-72514600	Flanking Active TSS	HUVEC	blood vessel
41	chr9:72514000-72515400	Enhancers	Brain Anterior Caudate	brain
42	chr9:72514000-72515400	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr9:72514000-72539600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr9:72514600-72514800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:72514600-72514800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr9:72514600-72515800	Enhancers	HUVEC	blood vessel
47	chr9:72514800-72515200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr9:72515200-72515400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr9:72515200-72515800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:72515800-72519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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