Variant report

Variant	esv2752551
Chromosome Location	chr9:115854446-115864446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:115856198..115858417-chr9:115859044..115860820,2	MCF-7	breast:
2	chr9:115857627..115859228-chr9:115862947..115865941,2	MCF-7	breast:
3	chr9:115853301..115854826-chr9:115855514..115857498,2	K562	blood:
4	chr9:115856198..115858417-chr9:115859044..115860820,2	MCF-7	breast:
5	chr9:115853301..115854826-chr9:115855514..115857498,2	K562	blood:
6	chr9:115857627..115859228-chr9:115862947..115865941,2	MCF-7	breast:

Extended variants
information (count: 354 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:354 , 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	rs60064995	chr9:115854451-115854452	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116104383	chr9:115854452-115854453	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs189852743	chr9:115854471-115854472	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs538179403	chr9:115854482-115854483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs183246921	chr9:115854508-115854509	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs186484517	chr9:115854510-115854511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs16933526	chr9:115854519-115854520	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs571590915	chr9:115854595-115854596	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs537075052	chr9:115854616-115854617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs368617628	chr9:115854640-115854641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs60631544	chr9:115854654-115854655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs12001237	chr9:115854670-115854671	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs191458089	chr9:115854685-115854686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs141620140	chr9:115854689-115854690	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs553429375	chr9:115854759-115854760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs572188909	chr9:115854781-115854782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs145118088	chr9:115854833-115854834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148343902	chr9:115854836-115854837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141578839	chr9:115854883-115854884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150894326	chr9:115854900-115854901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537248279	chr9:115854912-115854913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183569131	chr9:115854928-115854929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550446615	chr9:115854996-115854997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200416725	chr9:115854997-115854998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201305777	chr9:115854998-115854999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188507871	chr9:115855053-115855054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375805821	chr9:115855073-115855074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386737757	chr9:115855084-115855085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540431595	chr9:115855086-115855087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543840217	chr9:115855087-115855088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528692882	chr9:115855112-115855113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192890500	chr9:115855118-115855119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111861342	chr9:115855186-115855187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182544337	chr9:115855227-115855228	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534902477	chr9:115855253-115855254	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186509634	chr9:115855259-115855260	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs77904381	chr9:115855320-115855321	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536641709	chr9:115855341-115855342	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546814214	chr9:115855349-115855350	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74480008	chr9:115855356-115855357	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534836589	chr9:115855409-115855410	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577560153	chr9:115855426-115855427	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367855870	chr9:115855474-115855475	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557952986	chr9:115855489-115855490	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191355188	chr9:115855558-115855559	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537298892	chr9:115855581-115855582	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531467243	chr9:115855598-115855599	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557215370	chr9:115855627-115855628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573593728	chr9:115855632-115855633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201775039	chr9:115855667-115855668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115854400-115854800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:115854800-115855200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:115855200-115855600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:115855600-115857200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:115857000-115857600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:115857200-115858400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:115858400-115859000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:115858800-115859000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:115858800-115859000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
10	chr9:115858800-115859000	Enhancers	Gastric	stomach
11	chr9:115859000-115861800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:115859000-115862400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:115861600-115874000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:115861800-115862400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:115862400-115862600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:115862400-115862800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:115862600-115866000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:115862800-115863600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:115863600-115867000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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