Variant report

Variant	nsv430073
Chromosome Location	chr9:73825109-73869960
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:17)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

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

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf85-8	chr9:73869195-73869338	l_3783_chr9:73865405-73895070_testes
2	lnc-C9orf85-8	chr9:73865406-73865546	l_3783_chr9:73865405-73895070_testes

No data

Extended variants
information (count: 1430 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1430 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2174306	chr9:73825109-73825110	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573858507	chr9:73825111-73825112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186144316	chr9:73825113-73825114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556316984	chr9:73825126-73825127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577714002	chr9:73825133-73825134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577654143	chr9:73825137-73825138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545130533	chr9:73825180-73825181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543104097	chr9:73825190-73825191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560251595	chr9:73825205-73825206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572090663	chr9:73825234-73825235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545978696	chr9:73825269-73825270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562276178	chr9:73825306-73825307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112190885	chr9:73825320-73825321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148111242	chr9:73825322-73825323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550938886	chr9:73825336-73825337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563099990	chr9:73825361-73825362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533322505	chr9:73825404-73825405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551473871	chr9:73825462-73825463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141910279	chr9:73825493-73825494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540134322	chr9:73825535-73825536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556824463	chr9:73825545-73825546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548950400	chr9:73825547-73825548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549398655	chr9:73825594-73825595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77963835	chr9:73825597-73825598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1504394	chr9:73825601-73825602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544965589	chr9:73825607-73825608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189420918	chr9:73825624-73825625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35547881	chr9:73825653-73825654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182253622	chr9:73825692-73825693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7040166	chr9:73825696-73825697	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553936001	chr9:73825712-73825713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572153566	chr9:73825783-73825784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542682090	chr9:73825789-73825790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564958495	chr9:73825803-73825804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560933047	chr9:73825804-73825805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575899742	chr9:73825816-73825817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376462505	chr9:73825822-73825823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572407538	chr9:73825838-73825839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145993799	chr9:73825871-73825872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72733832	chr9:73825878-73825879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs35090567	chr9:73825899-73825900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560247642	chr9:73825945-73825946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567848456	chr9:73826080-73826081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552035298	chr9:73826110-73826111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74380493	chr9:73826126-73826127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112797814	chr9:73826158-73826159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113632735	chr9:73826180-73826181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548035236	chr9:73826186-73826187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371822465	chr9:73826213-73826214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374682228	chr9:73826223-73826224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73824600-73825200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr9:73824800-73825200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:73824800-73825200	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr9:73825000-73825200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:73825000-73833000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:73830000-73830400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr9:73830200-73831400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:73830400-73831000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr9:73830400-73833600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:73830800-73831000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:73831000-73833800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr9:73831400-73833600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:73832600-73833400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:73833000-73833200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr9:73833200-73833600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:73833200-73834600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:73833400-73834800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr9:73833600-73834600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr9:73833600-73834800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:73833600-73834800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:73833800-73834200	Enhancers	HepG2	liver
22	chr9:73833800-73834600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr9:73833800-73834800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr9:73834000-73834800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:73834000-73834800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr9:73834600-73834800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:73834800-73837400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:73834800-73838400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:73834800-73838800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:73837400-73837600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:73837600-73838000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr9:73837600-73839000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:73838400-73839200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:73838400-73839400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr9:73838800-73839200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr9:73838800-73839400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr9:73838800-73839400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr9:73847800-73848000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:73848000-73849800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:73848600-73849200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:73849200-73853600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:73849800-73850000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:73849800-73850200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:73850000-73857800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:73853200-73853400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr9:73853400-73858800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr9:73853600-73856200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr9:73853600-73857400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr9:73854400-73855600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr9:73854400-73856400	Enhancers	HUES64 Cell Line	embryonic stem cell

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