Variant report

Variant	nsv540152
Chromosome Location	chr9:73793681-73893133
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:73618048..73618591-chr9:73864438..73865164,2	MCF-7	breast:
2	chr9:73617003..73617769-chr9:73864671..73865495,2	MCF-7	breast:
3	chr9:73254797..73256065-chr9:73864206..73865490,4	MCF-7	breast:
4	chr9:73616378..73616980-chr9:73864685..73865448,5	MCF-7	breast:
5	chr9:73539689..73540473-chr9:73864229..73864817,3	MCF-7	breast:
6	chr9:73864387..73865377-chr9:74330813..74331790,2	K562	blood:
7	chr9:73539789..73540480-chr9:73863378..73863879,2	MCF-7	breast:
8	chr9:73617917..73618662-chr9:73864369..73865150,3	MCF-7	breast:
9	chr9:73255235..73255857-chr9:73864357..73865338,4	K562	blood:
10	chr9:73616988..73617845-chr9:73864418..73864972,2	MCF-7	breast:
11	chr9:73855908..73857588-chr9:73861755..73863334,2	MCF-7	breast:
12	chr9:73539587..73540524-chr9:73864401..73865325,3	K562	blood:
13	chr9:73244111..73244669-chr9:73864570..73865253,2	MCF-7	breast:
14	chr9:73888188..73889825-chr9:73892226..73894815,2	K562	blood:
15	chr9:73539566..73540528-chr9:73864349..73865391,8	MCF-7	breast:
16	chr9:73855908..73857588-chr9:73861755..73863334,2	MCF-7	breast:
17	chr9:73888188..73889825-chr9:73892226..73894815,2	K562	blood:
18	chr9:73254840..73255344-chr9:73864424..73865232,2	MCF-7	breast:
19	chr9:73541049..73541656-chr9:73864349..73864905,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf85-8	chr9:73869961-73870021	l_3783_chr9:73865405-73895070_testes
2	lnc-C9orf85-8	chr9:73865406-73865546	l_3783_chr9:73865405-73895070_testes
3	lnc-C9orf85-8	chr9:73885395-73885452	l_3783_chr9:73865405-73895070_testes
4	lnc-C9orf85-8	chr9:73869195-73869338	l_3783_chr9:73865405-73895070_testes

No data

Extended variants
information (count: 2654 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:2654 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141380733	chr9:73793684-73793685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572915514	chr9:73793689-73793690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186327359	chr9:73793727-73793728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577296739	chr9:73793728-73793729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150713747	chr9:73793735-73793736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377074110	chr9:73793769-73793770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7870153	chr9:73793776-73793777	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548516059	chr9:73793864-73793865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4745063	chr9:73793882-73793883	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs189166429	chr9:73793885-73793886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552761373	chr9:73793908-73793909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556826980	chr9:73793921-73793922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139479671	chr9:73793923-73793924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145097002	chr9:73793939-73793940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535155520	chr9:73793951-73793952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368052234	chr9:73793988-73793989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546769490	chr9:73794020-73794021	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs564359693	chr9:73794072-73794073	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs573285897	chr9:73794083-73794084	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs568513597	chr9:73794086-73794087	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs181555875	chr9:73794105-73794106	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs186955103	chr9:73794113-73794114	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs575624514	chr9:73794118-73794119	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs147169021	chr9:73794179-73794180	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs557960759	chr9:73794201-73794202	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533380611	chr9:73794219-73794220	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78208442	chr9:73794249-73794250	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1329769	chr9:73794264-73794265	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573352375	chr9:73794308-73794309	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140036385	chr9:73794335-73794336	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375187474	chr9:73794339-73794340	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531139771	chr9:73794340-73794341	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17056425	chr9:73794362-73794363	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs575777254	chr9:73794404-73794405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112183082	chr9:73794409-73794410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564744962	chr9:73794414-73794415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528675899	chr9:73794417-73794418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7469513	chr9:73794459-73794460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12338826	chr9:73794470-73794471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372489167	chr9:73794477-73794478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535919029	chr9:73794481-73794482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551015484	chr9:73794511-73794512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183131020	chr9:73794536-73794537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186431712	chr9:73794553-73794554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539755232	chr9:73794582-73794583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10868968	chr9:73794592-73794593	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566702561	chr9:73794594-73794595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189942992	chr9:73794641-73794642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555100253	chr9:73794667-73794668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369306754	chr9:73794674-73794675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73791800-73794000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:73792200-73794200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:73793200-73794200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:73794000-73794400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:73794000-73794400	Active TSS	Brain Anterior Caudate	brain
6	chr9:73794000-73794600	Enhancers	Fetal Intestine Small	intestine
7	chr9:73794200-73794600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr9:73794200-73797800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:73794400-73794600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:73794600-73797600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:73797600-73798000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:73797800-73799400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:73798000-73798400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr9:73798000-73798400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:73798000-73799000	Enhancers	Primary hematopoietic stem cells	blood
16	chr9:73798400-73799200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:73798800-73809400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:73809400-73809600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:73824400-73825000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:73824600-73825000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr9:73824600-73825200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr9:73824800-73825200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:73824800-73825200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr9:73825000-73825200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:73825000-73833000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr9:73830000-73830400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr9:73830200-73831400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:73830400-73831000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr9:73830400-73833600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr9:73830800-73831000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:73831000-73833800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr9:73831400-73833600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:73832600-73833400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr9:73833000-73833200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr9:73833200-73833600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr9:73833200-73834600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:73833400-73834800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr9:73833600-73834600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:73833600-73834800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:73833600-73834800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:73833800-73834200	Enhancers	HepG2	liver
42	chr9:73833800-73834600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr9:73833800-73834800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr9:73834000-73834800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:73834000-73834800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr9:73834600-73834800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:73834800-73837400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:73834800-73838400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:73834800-73838800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr9:73837400-73837600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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