Variant report

Variant	nsv415477
Chromosome Location	chr9:72629228-72637760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72625669..72627256-chr9:72629721..72631306,2	MCF-7	breast:
2	chr9:72637007..72638664-chr9:72645208..72646717,2	MCF-7	breast:

Extended variants
information (count: 331 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372286739	chr9:72629228-72629229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200530711	chr9:72629234-72629235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201630339	chr9:72629240-72629241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs151089856	chr9:72629273-72629274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183050135	chr9:72629303-72629304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7868045	chr9:72629305-72629306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs561396410	chr9:72629318-72629319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569981427	chr9:72629376-72629377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374244866	chr9:72629377-72629378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574711326	chr9:72629384-72629385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143254293	chr9:72629413-72629414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188181952	chr9:72629463-72629464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192774969	chr9:72629478-72629479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375338544	chr9:72629488-72629489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564515777	chr9:72629495-72629496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528448495	chr9:72629590-72629591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146673846	chr9:72629658-72629659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12554412	chr9:72629662-72629663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs535935452	chr9:72629693-72629694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542410870	chr9:72629694-72629695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550778294	chr9:72629716-72629717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140246891	chr9:72629776-72629777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117712572	chr9:72629811-72629812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112832493	chr9:72629813-72629814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557725566	chr9:72629845-72629846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145206727	chr9:72629849-72629850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533514413	chr9:72629865-72629866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184954890	chr9:72629883-72629884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189067012	chr9:72629914-72629915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10868386	chr9:72629928-72629929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs10868387	chr9:72629938-72629939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544066952	chr9:72629962-72629963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191451658	chr9:72629980-72629981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563867916	chr9:72630038-72630039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113984012	chr9:72630060-72630061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372934781	chr9:72630098-72630099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184763028	chr9:72630102-72630103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138015083	chr9:72630112-72630113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564742246	chr9:72630170-72630171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145094032	chr9:72630175-72630176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149110725	chr9:72630176-72630177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17087211	chr9:72630188-72630189	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562114075	chr9:72630189-72630190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189615839	chr9:72630267-72630268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569041677	chr9:72630268-72630269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76902067	chr9:72630293-72630294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527319325	chr9:72630328-72630329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371677656	chr9:72630343-72630344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531048231	chr9:72630376-72630377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143152870	chr9:72630395-72630396	Weak transcription Enhancers	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72621200-72635400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:72627800-72632600	Weak transcription	Ovary	ovary
3	chr9:72627800-72633200	Weak transcription	Fetal Lung	lung
4	chr9:72628200-72629400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:72629000-72630800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:72629200-72630200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:72629200-72630200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:72629200-72630200	Weak transcription	HMEC	breast
9	chr9:72629200-72630200	Weak transcription	NHEK	skin
10	chr9:72629200-72630400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:72629200-72634800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:72629200-72635200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:72629200-72635200	Weak transcription	NHLF	lung
14	chr9:72629200-72635400	Weak transcription	HSMM	muscle
15	chr9:72629200-72635800	Weak transcription	HSMMtube	muscle
16	chr9:72629400-72630000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:72630000-72630600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:72630200-72630600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr9:72630200-72630600	Enhancers	HMEC	breast
20	chr9:72630200-72630800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:72630200-72630800	Enhancers	NHEK	skin
22	chr9:72630600-72634800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:72630600-72634800	Weak transcription	HMEC	breast
24	chr9:72630600-72635200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr9:72630800-72631000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr9:72630800-72634600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:72630800-72634800	Weak transcription	NHEK	skin
28	chr9:72631200-72632200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr9:72631400-72631600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:72632200-72635200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr9:72632600-72632800	Enhancers	Ovary	ovary
32	chr9:72632800-72633800	Weak transcription	Ovary	ovary
33	chr9:72633200-72634400	Enhancers	Fetal Lung	lung
34	chr9:72633600-72633800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:72633600-72634800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr9:72633800-72636200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:72634400-72634800	Weak transcription	Fetal Lung	lung
38	chr9:72634600-72635000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr9:72634600-72636200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr9:72634800-72635200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr9:72634800-72635200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:72634800-72635400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr9:72634800-72635600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:72634800-72635600	Enhancers	Gastric	stomach
45	chr9:72634800-72636000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:72634800-72636400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:72634800-72637200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:72634800-72637200	Enhancers	Fetal Lung	lung
49	chr9:72634800-72637400	Enhancers	NHEK	skin
50	chr9:72634800-72637600	Enhancers	Cortex derived primary cultured neurospheres	brain

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