Variant report

Variant	nsv614692
Chromosome Location	chr9:78917378-78921849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:78701639..78702246-chr9:78917623..78918458,2	MCF-7	breast:
2	chr9:78834517..78835118-chr9:78917910..78918421,2	MCF-7	breast:
3	chr9:78917718..78920640-chr9:78922356..78925203,2	K562	blood:
4	chr9:78593538..78594448-chr9:78917639..78918554,2	MCF-7	breast:
5	chr9:78594386..78595229-chr9:78917510..78918589,3	MCF-7	breast:

Extended variants
information (count: 113 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11788518	chr9:78917378-78917379	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540548704	chr9:78917454-78917455	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560382009	chr9:78917477-78917478	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529481770	chr9:78917503-78917504	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2643334	chr9:78917527-78917528	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562488458	chr9:78917537-78917538	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181928895	chr9:78917562-78917563	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185146032	chr9:78917575-78917576	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2643333	chr9:78917580-78917581	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs35297805	chr9:78917588-78917589	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527264506	chr9:78917666-78917667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189902085	chr9:78917667-78917668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567549878	chr9:78917669-78917670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536498956	chr9:78917711-78917712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556385351	chr9:78917733-78917734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147273869	chr9:78917738-78917739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538340018	chr9:78917799-78917800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557945577	chr9:78917813-78917814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17062408	chr9:78917814-78917815	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs181168411	chr9:78917871-78917872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143963842	chr9:78917875-78917876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10552673	chr9:78917876-78917877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77288949	chr9:78917896-78917897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13283134	chr9:78917901-78917902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13283135	chr9:78917904-78917905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554073740	chr9:78917926-78917927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs17777727	chr9:78917949-78917950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542852017	chr9:78917955-78917956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11409395	chr9:78917976-78917977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs398011054	chr9:78917978-78917979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75942728	chr9:78917979-78917980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142814906	chr9:78917994-78917995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531762005	chr9:78918021-78918022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11144824	chr9:78918033-78918034	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564793054	chr9:78918042-78918043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527316878	chr9:78918057-78918058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72743110	chr9:78918096-78918097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575583522	chr9:78918117-78918118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs13283517	chr9:78918125-78918126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567608003	chr9:78918188-78918189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574718482	chr9:78918220-78918221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530026887	chr9:78918302-78918303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7043376	chr9:78918310-78918311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569857433	chr9:78918334-78918335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538423780	chr9:78918350-78918351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551887606	chr9:78918352-78918353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571629805	chr9:78918369-78918370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533976897	chr9:78918384-78918385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377251178	chr9:78918471-78918472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17062410	chr9:78918488-78918489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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
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
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78903400-78917600	Weak transcription	Stomach Mucosa	stomach
2	chr9:78905800-78922400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:78912000-78917600	Strong transcription	Fetal Intestine Large	intestine
4	chr9:78912400-78927800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:78913200-78918000	Weak transcription	Placenta	Placenta
6	chr9:78913400-78935200	Weak transcription	Small Intestine	intestine
7	chr9:78913800-78917400	Strong transcription	Fetal Intestine Small	intestine
8	chr9:78916000-78925400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr9:78917200-78917600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr9:78917200-78917800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:78917200-78917800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr9:78917400-78917600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:78917400-78918600	Weak transcription	Fetal Intestine Small	intestine
14	chr9:78917400-78928000	Weak transcription	Colonic Mucosa	Colon
15	chr9:78917600-78918000	Enhancers	Stomach Mucosa	stomach
16	chr9:78917600-78923600	Weak transcription	Fetal Intestine Large	intestine
17	chr9:78918000-78919000	Enhancers	Placenta	Placenta
18	chr9:78918000-78923000	Weak transcription	Stomach Mucosa	stomach
19	chr9:78918600-78918800	Strong transcription	Fetal Intestine Small	intestine
20	chr9:78918800-78924000	Weak transcription	Fetal Intestine Small	intestine
21	chr9:78919000-78924800	Weak transcription	Placenta	Placenta

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