Variant report

Variant	nsv515734
Chromosome Location	chr9:72520270-72530315
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	chr9:72480266..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: 370 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10511974	chr9:72520270-72520271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552502485	chr9:72520280-72520281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570422475	chr9:72520380-72520381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79613235	chr9:72520425-72520426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142973843	chr9:72520441-72520442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568177621	chr9:72520462-72520463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536430612	chr9:72520529-72520530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187255903	chr9:72520538-72520539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576327451	chr9:72520544-72520545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11463217	chr9:72520556-72520557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191240582	chr9:72520560-72520561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7872485	chr9:72520570-72520571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184388698	chr9:72520571-72520572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541441720	chr9:72520606-72520607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12349451	chr9:72520625-72520626	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530253390	chr9:72520702-72520703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190597407	chr9:72520811-72520812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs56235401	chr9:72520823-72520824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs41282439	chr9:72520838-72520839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs372619371	chr9:72520849-72520850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201982979	chr9:72520860-72520861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373412738	chr9:72520876-72520877	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs145668801	chr9:72520897-72520898	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs200233754	chr9:72520906-72520907	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs375729816	chr9:72520912-72520913	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs370945700	chr9:72520915-72520916	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs374542595	chr9:72520916-72520917	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs138325359	chr9:72520928-72520929	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs141342918	chr9:72520929-72520930	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs535221991	chr9:72520940-72520941	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs199948115	chr9:72520944-72520945	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs376653927	chr9:72520955-72520956	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs199871632	chr9:72520982-72520983	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs200967474	chr9:72521001-72521002	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs371335484	chr9:72521068-72521069	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs373979864	chr9:72521079-72521080	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs368105740	chr9:72521093-72521094	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs367769048	chr9:72521098-72521099	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs560910200	chr9:72521166-72521167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144704499	chr9:72521172-72521173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577498935	chr9:72521207-72521208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534698585	chr9:72521217-72521218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553378181	chr9:72521219-72521220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567316254	chr9:72521229-72521230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574744462	chr9:72521249-72521250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542303156	chr9:72521255-72521256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536391139	chr9:72521374-72521375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75635282	chr9:72521375-72521376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185191523	chr9:72521460-72521461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564210127	chr9:72521523-72521524	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72514000-72539600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:72515800-72520800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:72519400-72521200	Enhancers	HMEC	breast
4	chr9:72519800-72521200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr9:72520200-72520600	Enhancers	HSMM	muscle
6	chr9:72520200-72521000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:72520600-72535200	Weak transcription	HSMM	muscle
8	chr9:72520800-72521200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr9:72521000-72531200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:72526800-72528000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:72527400-72528000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr9:72528200-72529600	Weak transcription	Muscle Satellite Cultured Cells	--

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