Variant report

Variant	nsv973433
Chromosome Location	chr9:103391464-103401515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:103392914..103394911-chr9:103400150..103401746,2	MCF-7	breast:
2	chr9:103385378..103387521-chr9:103389215..103391737,2	MCF-7	breast:
3	chr9:103388531..103390042-chr9:103390783..103393559,2	K562	blood:
4	chr9:103392914..103394911-chr9:103400150..103401746,2	MCF-7	breast:

Extended variants
information (count: 380 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573460142	chr9:103391467-103391468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538201168	chr9:103391538-103391539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149574084	chr9:103391553-103391554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7853484	chr9:103391639-103391640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7850373	chr9:103391670-103391671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184714053	chr9:103391683-103391684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376182979	chr9:103391685-103391686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7863904	chr9:103391846-103391847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573822534	chr9:103391872-103391873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374039566	chr9:103391905-103391906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542694986	chr9:103391969-103391970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10989189	chr9:103392078-103392079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556842270	chr9:103392145-103392146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561596628	chr9:103392151-103392152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530624707	chr9:103392161-103392162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35131108	chr9:103392195-103392196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557274453	chr9:103392198-103392199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564424317	chr9:103392235-103392236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144281089	chr9:103392319-103392320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546604513	chr9:103392392-103392393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566462693	chr9:103392397-103392398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79899332	chr9:103392448-103392449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549094879	chr9:103392476-103392477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568923663	chr9:103392495-103392496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538439747	chr9:103392533-103392534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73495767	chr9:103392538-103392539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs578213342	chr9:103392554-103392555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534204131	chr9:103392615-103392616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375291390	chr9:103392647-103392648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148752795	chr9:103392648-103392649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553783859	chr9:103392659-103392660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370686861	chr9:103392669-103392670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189999055	chr9:103392671-103392672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542565691	chr9:103392689-103392690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144801038	chr9:103392698-103392699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181588154	chr9:103392733-103392734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186566018	chr9:103392742-103392743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113385237	chr9:103392827-103392828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190973892	chr9:103392855-103392856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564106232	chr9:103392883-103392884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533294093	chr9:103392896-103392897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374390818	chr9:103392909-103392910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541214731	chr9:103392929-103392930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76932685	chr9:103392946-103392947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77874575	chr9:103392947-103392948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147935751	chr9:103393025-103393026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140148901	chr9:103393054-103393055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs180979166	chr9:103393085-103393086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528895764	chr9:103393090-103393091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76326350	chr9:103393091-103393092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103391400-103395000	Weak transcription	Ovary	ovary
2	chr9:103393800-103394200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr9:103394200-103400000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:103395000-103395200	Enhancers	Ovary	ovary
5	chr9:103395200-103400400	Weak transcription	Ovary	ovary
6	chr9:103396400-103396600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr9:103396600-103400200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr9:103399600-103400400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:103399800-103400200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr9:103400000-103400200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:103400000-103400200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr9:103400000-103400200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr9:103400000-103400800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr9:103400000-103402400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr9:103400200-103400400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:103400200-103400400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr9:103400200-103400400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr9:103400200-103400400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr9:103400200-103400600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:103400200-103400600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr9:103400200-103400600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr9:103400200-103400600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr9:103400200-103400600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr9:103400200-103400600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr9:103400200-103400600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr9:103400400-103400600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
27	chr9:103400400-103400600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:103400400-103400600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr9:103400400-103400600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr9:103400400-103401800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:103400400-103402000	Enhancers	Ovary	ovary
32	chr9:103400600-103401200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr9:103400600-103401800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:103400600-103402600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr9:103400600-103402600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr9:103400600-103402600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr9:103400600-103403000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr9:103400600-103403000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr9:103400600-103403000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr9:103400800-103402600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr9:103400800-103403400	Enhancers	Brain Germinal Matrix	brain
42	chr9:103401200-103401600	Weak transcription	H9 Cell Line	embryonic stem cell

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