Variant report

Variant	nsv893769
Chromosome Location	chr9:117936903-117985886
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:117978231..117979736-chr9:117982363..117984599,2	MCF-7	breast:
2	chr9:117953158..117955908-chr9:117957675..117960563,2	MCF-7	breast:
3	chr9:117953158..117955908-chr9:117957675..117960563,2	MCF-7	breast:
4	chr9:117978231..117979736-chr9:117982363..117984599,2	MCF-7	breast:

Extended variants
information (count: 1885 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1885 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12115269	chr9:117936903-117936904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372398188	chr9:117936909-117936910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554905880	chr9:117936914-117936915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568411177	chr9:117936953-117936954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190534063	chr9:117937101-117937102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573717404	chr9:117937126-117937127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553967443	chr9:117937139-117937140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573235639	chr9:117937192-117937193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370309045	chr9:117937197-117937198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7470092	chr9:117937273-117937274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs111979114	chr9:117937294-117937295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192940077	chr9:117937304-117937305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561246051	chr9:117937309-117937310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138398736	chr9:117937400-117937401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185127635	chr9:117937438-117937439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188698481	chr9:117937440-117937441	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs552256303	chr9:117937444-117937445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371957658	chr9:117937460-117937461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562420680	chr9:117937461-117937462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181394932	chr9:117937475-117937476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562983530	chr9:117937476-117937477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548247732	chr9:117937479-117937480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568346082	chr9:117937480-117937481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149633539	chr9:117937481-117937482	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs369360369	chr9:117937505-117937506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547248218	chr9:117937530-117937531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372983297	chr9:117937531-117937532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376290647	chr9:117937544-117937545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200326893	chr9:117937599-117937600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549041468	chr9:117937636-117937637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570642803	chr9:117937653-117937654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538718315	chr9:117937701-117937702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558630903	chr9:117937704-117937705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185636291	chr9:117937824-117937825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188384857	chr9:117937826-117937827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180761017	chr9:117937836-117937837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575002024	chr9:117937846-117937847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112492977	chr9:117937920-117937921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10122596	chr9:117937951-117937952	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187268807	chr9:117937976-117937977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12353180	chr9:117937992-117937993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs12339240	chr9:117938000-117938001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12353182	chr9:117938007-117938008	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183437345	chr9:117938022-117938023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562560827	chr9:117938060-117938061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201905577	chr9:117938061-117938062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7024989	chr9:117938063-117938064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535561912	chr9:117938092-117938093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186052732	chr9:117938099-117938100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571368018	chr9:117938105-117938106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21509527	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Neurodevelopmental disorder	0	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:709 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117922000-117944600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:117930000-117964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:117933400-117941400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:117933400-117942200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:117933400-117943400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:117933600-117938200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:117933600-117940200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:117933600-117942200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr9:117933600-117944400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:117934000-117938200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:117935000-117941400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:117935200-117941200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr9:117936600-117937000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:117937000-117938000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr9:117937800-117940800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:117938000-117938600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr9:117938200-117938400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr9:117938200-117938400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr9:117938400-117939200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr9:117938400-117939200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr9:117938600-117942600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr9:117939200-117939600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr9:117939600-117941400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr9:117940200-117940400	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr9:117940400-117941200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr9:117940800-117941000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:117940800-117942400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:117941000-117941400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:117941200-117941600	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr9:117941200-117942000	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr9:117941400-117941800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:117941400-117941800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:117941400-117942400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr9:117941400-117942400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr9:117941600-117941800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr9:117941800-117942000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr9:117941800-117942200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:117942000-117942200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr9:117942000-117942800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr9:117942200-117942400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:117942200-117942600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr9:117942200-117942600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:117942200-117942800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr9:117942200-117943000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr9:117942400-117942600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr9:117942400-117942600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:117942400-117942800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr9:117942400-117943000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:117942400-117944400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:117942600-117942800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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