Variant report

Variant	nsv522018
Chromosome Location	chr9:102368541-102386706
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:102364593..102366343-chr9:102367928..102370864,2	MCF-7	breast:
2	chr9:102384748..102386987-chr9:102389303..102392747,3	K562	blood:
3	chr9:102373477..102376185-chr9:102384745..102387184,2	K562	blood:
4	chr9:102376941..102379288-chr9:102392292..102393815,2	K562	blood:
5	chr9:102373477..102376185-chr9:102384745..102387184,2	K562	blood:

Extended variants
information (count: 430 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386736758	chr9:102368541-102368542	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs73654122	chr9:102368542-102368543	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529167914	chr9:102368557-102368558	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs113005715	chr9:102368583-102368584	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs73654123	chr9:102368618-102368619	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs149007197	chr9:102368670-102368671	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181522295	chr9:102368724-102368725	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143795543	chr9:102368737-102368738	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369194641	chr9:102368783-102368784	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370213977	chr9:102368788-102368789	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73654124	chr9:102368816-102368817	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574819965	chr9:102368819-102368820	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77020863	chr9:102368833-102368834	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151100326	chr9:102368917-102368918	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551454299	chr9:102368930-102368931	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577617526	chr9:102368933-102368934	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184244455	chr9:102368942-102368943	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546493117	chr9:102368953-102368954	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186905831	chr9:102368990-102368991	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576302943	chr9:102368993-102368994	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141348189	chr9:102369057-102369058	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190502286	chr9:102369203-102369204	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181917827	chr9:102369309-102369310	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76085414	chr9:102369341-102369342	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549375289	chr9:102369351-102369352	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368172584	chr9:102369373-102369374	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74547180	chr9:102369394-102369395	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74979711	chr9:102369395-102369396	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552037366	chr9:102369413-102369414	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145069114	chr9:102369419-102369420	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555509871	chr9:102369485-102369486	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138857975	chr9:102369586-102369587	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559545505	chr9:102369606-102369607	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs142012474	chr9:102369609-102369610	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs568490315	chr9:102369647-102369648	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs372795987	chr9:102369651-102369652	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs537493451	chr9:102369699-102369700	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs557415965	chr9:102369727-102369728	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs185466690	chr9:102369788-102369789	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs546556518	chr9:102369791-102369792	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs553371544	chr9:102369833-102369834	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs189684255	chr9:102369839-102369840	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs528630540	chr9:102369862-102369863	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs573430613	chr9:102369869-102369870	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs542048824	chr9:102369895-102369896	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs562270887	chr9:102369908-102369909	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs377635837	chr9:102369965-102369966	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs12345452	chr9:102370012-102370013	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs182686931	chr9:102370023-102370024	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs529744067	chr9:102370058-102370059	Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Melanoma	18172304	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
Acute myeloid leukemia	21251322	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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102365800-102369800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr9:102367200-102368600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
3	chr9:102367200-102369400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr9:102367600-102368800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:102367600-102368800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:102367600-102368800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:102367600-102370000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:102367600-102370400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:102368000-102368800	Enhancers	GM12878-XiMat	blood
10	chr9:102368400-102368800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr9:102368600-102369200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr9:102368600-102369600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:102368600-102370400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:102368600-102370600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr9:102368800-102369000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:102368800-102369600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr9:102368800-102369600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:102368800-102369800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr9:102368800-102370600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr9:102368800-102370600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:102368800-102370800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr9:102369200-102370000	Enhancers	Fetal Brain Male	brain
23	chr9:102369200-102370800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr9:102369400-102369800	Enhancers	Brain Germinal Matrix	brain
25	chr9:102369400-102370000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr9:102369600-102369800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr9:102369600-102370000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr9:102369800-102370600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr9:102369800-102370800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:102370000-102370200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr9:102370000-102370600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:102370000-102370600	Enhancers	H9 Cell Line	embryonic stem cell
33	chr9:102370000-102370800	Enhancers	Fetal Heart	heart
34	chr9:102370200-102370600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:102370200-102370800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr9:102370200-102370800	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr9:102370200-102370800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:102370400-102370600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:102370600-102370800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
40	chr9:102370600-102376600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:102370800-102371200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr9:102370800-102372400	Weak transcription	Fetal Heart	heart
43	chr9:102371200-102371400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:102371400-102372600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:102372400-102372600	Enhancers	Fetal Heart	heart
46	chr9:102372600-102372800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr9:102372600-102373400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:102372800-102373000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr9:102372800-102373800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:102372800-102374600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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