Variant report

Variant	nsv893443
Chromosome Location	chr9:73859086-74008905
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:30)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:73953061..73954826-chr9:73956133..73959073,2	K562	blood:
2	chr9:73617003..73617769-chr9:73864671..73865495,2	MCF-7	breast:
3	chr9:73539566..73540528-chr9:73864349..73865391,8	MCF-7	breast:
4	chr9:73616988..73617845-chr9:73864418..73864972,2	MCF-7	breast:
5	chr9:73888188..73889825-chr9:73892226..73894815,2	K562	blood:
6	chr9:73541049..73541656-chr9:73864349..73864905,2	K562	blood:
7	chr9:73888188..73889825-chr9:73892226..73894815,2	K562	blood:
8	chr9:73898945..73901446-chr9:74374124..74376228,2	MCF-7	breast:
9	chr20:54964786..54966416-chr9:73917001..73919817,2	MCF-7	breast:
10	chr9:73254797..73256065-chr9:73864206..73865490,4	MCF-7	breast:
11	chr9:73953061..73954826-chr9:73956133..73959073,2	K562	blood:
12	chr9:73539789..73540480-chr9:73863378..73863879,2	MCF-7	breast:
13	chr9:73855908..73857588-chr9:73861755..73863334,2	MCF-7	breast:
14	chr9:73934494..73936827-chr9:73938162..73941222,3	K562	blood:
15	chr9:73539689..73540473-chr9:73864229..73864817,3	MCF-7	breast:
16	chr9:73934494..73936827-chr9:73938162..73941222,3	K562	blood:
17	chr9:73900156..73900815-chr9:74383864..74384765,2	MCF-7	breast:
18	chr9:73255235..73255857-chr9:73864357..73865338,4	K562	blood:
19	chr9:73618048..73618591-chr9:73864438..73865164,2	MCF-7	breast:
20	chr9:73864387..73865377-chr9:74330813..74331790,2	K562	blood:
21	chr9:73254840..73255344-chr9:73864424..73865232,2	MCF-7	breast:
22	chr9:73616378..73616980-chr9:73864685..73865448,5	MCF-7	breast:
23	chr9:73969271..73970255-chr9:74383485..74384398,3	MCF-7	breast:
24	chr9:73617917..73618662-chr9:73864369..73865150,3	MCF-7	breast:
25	chr9:73244111..73244669-chr9:73864570..73865253,2	MCF-7	breast:
26	chr9:73934367..73936827-chr9:73939722..73941307,2	K562	blood:
27	chr9:73539587..73540524-chr9:73864401..73865325,3	K562	blood:
28	chr9:73938978..73941797-chr9:73943749..73946364,2	K562	blood:
29	chr9:73938978..73941797-chr9:73943749..73946364,2	K562	blood:
30	chr9:73934367..73936827-chr9:73939722..73941307,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf85-8	chr9:73865406-73865546	l_3783_chr9:73865405-73895070_testes
2	lnc-C9orf85-8	chr9:73885395-73885452	l_3783_chr9:73865405-73895070_testes
3	lnc-C9orf85-8	chr9:73894862-73895070	l_3783_chr9:73865405-73895070_testes
4	lnc-C9orf85-8	chr9:73869961-73870021	l_3783_chr9:73865405-73895070_testes
5	lnc-C9orf85-8	chr9:73869195-73869338	l_3783_chr9:73865405-73895070_testes

No data

Variant related genes	Relation type
ENSG00000135048	chromatin interactions

Extended variants
information (count: 4177 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:4177 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9785312	chr9:73859086-73859087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113224948	chr9:73859090-73859091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11142751	chr9:73859189-73859190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187857560	chr9:73859197-73859198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539755861	chr9:73859204-73859205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9785223	chr9:73859215-73859216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs111806261	chr9:73859265-73859266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537474284	chr9:73859266-73859267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369941235	chr9:73859311-73859312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535884188	chr9:73859333-73859334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72733867	chr9:73859364-73859365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373036843	chr9:73859408-73859409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575355693	chr9:73859506-73859507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544364858	chr9:73859532-73859533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557937975	chr9:73859651-73859652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527371605	chr9:73859658-73859659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12345071	chr9:73859710-73859711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147184537	chr9:73859720-73859721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148668402	chr9:73859760-73859761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193143791	chr9:73859768-73859769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185636928	chr9:73859770-73859771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571096361	chr9:73859820-73859821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142197271	chr9:73859823-73859824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190110565	chr9:73859858-73859859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192008383	chr9:73859940-73859941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73469317	chr9:73859982-73859983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs151222555	chr9:73859983-73859984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546569265	chr9:73859990-73859991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139222631	chr9:73860016-73860017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535459189	chr9:73860017-73860018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548981056	chr9:73860036-73860037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534393439	chr9:73860058-73860059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568969699	chr9:73860129-73860130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143981444	chr9:73860167-73860168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557876062	chr9:73860184-73860185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577805455	chr9:73860189-73860190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554280006	chr9:73860216-73860217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7034708	chr9:73860217-73860218	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554146527	chr9:73860265-73860266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184199285	chr9:73860266-73860267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7020698	chr9:73860274-73860275	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561678866	chr9:73860292-73860293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143289171	chr9:73860316-73860317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7035778	chr9:73860346-73860347	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201693142	chr9:73860359-73860360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397943570	chr9:73860375-73860376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201483977	chr9:73860376-73860377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545821206	chr9:73860389-73860390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11142752	chr9:73860416-73860417	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs149193029	chr9:73860421-73860422	Active TSS Weak transcription Enhancers Flanking Active TSS	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
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
T-cell acute lymphoblastic leukemia	18185524	CNVD

Chromatin state (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73854600-73860600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:73855600-73860400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:73857000-73859200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:73857600-73861600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:73858000-73859200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:73858000-73860400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:73858200-73861600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:73858600-73859800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:73858600-73861800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr9:73858600-73862000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr9:73858800-73859400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr9:73858800-73859400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr9:73858800-73859400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr9:73858800-73859400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:73858800-73860800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr9:73859000-73860400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr9:73859200-73859800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:73859200-73860000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr9:73859400-73860600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:73859400-73864600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr9:73859400-73864800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr9:73859800-73860200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:73859800-73865400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:73860000-73860800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:73860200-73861000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr9:73860400-73860600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr9:73860400-73860800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr9:73860400-73862000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr9:73860600-73860800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:73860600-73860800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr9:73860600-73861000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr9:73860600-73861200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:73860800-73861000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr9:73860800-73861000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr9:73860800-73861400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr9:73860800-73862000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:73861000-73861200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr9:73861000-73861800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr9:73861000-73862600	Enhancers	Liver	Liver
40	chr9:73861000-73864600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:73861200-73861400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr9:73861200-73865400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:73861400-73861800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr9:73861400-73862000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr9:73861600-73863600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:73861600-73864400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:73861800-73864400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr9:73861800-73864600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr9:73861800-73864600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr9:73862000-73864400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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