Variant report

Variant	esv1803911
Chromosome Location	chr9:73461480-73466355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:73458072..73461486-chr9:73461575..73464902,3	K562	blood:
2	chr9:73458072..73461486-chr9:73461575..73464902,3	K562	blood:

Extended variants
information (count: 190 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189564881	chr9:73461527-73461528	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370308405	chr9:73461547-73461548	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377705434	chr9:73461553-73461554	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10868907	chr9:73461558-73461559	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537982018	chr9:73461598-73461599	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182032943	chr9:73461639-73461640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561676534	chr9:73461666-73461667	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112616956	chr9:73461682-73461683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7847667	chr9:73461724-73461725	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544243947	chr9:73461754-73461755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141973372	chr9:73461758-73461759	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572049399	chr9:73461760-73461761	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187642916	chr9:73461762-73461763	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7862799	chr9:73461774-73461775	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576155626	chr9:73461820-73461821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189965780	chr9:73461867-73461868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543166041	chr9:73461882-73461883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7847940	chr9:73461900-73461901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181364169	chr9:73461972-73461973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117270851	chr9:73461974-73461975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7863077	chr9:73461975-73461976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150668868	chr9:73461994-73461995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549676647	chr9:73462017-73462018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10868908	chr9:73462079-73462080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs370828240	chr9:73462116-73462117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202229083	chr9:73462138-73462139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538401034	chr9:73462150-73462151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115819414	chr9:73462162-73462163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75418001	chr9:73462172-73462173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140893550	chr9:73462181-73462182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142767616	chr9:73462318-73462319	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs200165900	chr9:73462329-73462330	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs572085939	chr9:73462359-73462360	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs561763965	chr9:73462372-73462373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs73467851	chr9:73462404-73462405	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs201631578	chr9:73462443-73462444	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112116145	chr9:73462445-73462446	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576165112	chr9:73462453-73462454	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185895230	chr9:73462481-73462482	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10868909	chr9:73462493-73462494	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs79439892	chr9:73462502-73462503	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189981061	chr9:73462573-73462574	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541114660	chr9:73462593-73462594	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71826360	chr9:73462598-73462599	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112587987	chr9:73462604-73462605	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs113189468	chr9:73462610-73462611	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs62545303	chr9:73462689-73462690	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs147375323	chr9:73462774-73462775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs7022926	chr9:73462784-73462785	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs554206104	chr9:73462814-73462815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73427600-73483400	Weak transcription	Aorta	Aorta
2	chr9:73448200-73473600	Weak transcription	Fetal Kidney	kidney
3	chr9:73448400-73469000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr9:73450600-73477600	Weak transcription	Ovary	ovary
5	chr9:73452000-73469600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:73455600-73480600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:73456000-73461800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:73457200-73485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:73457800-73480600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr9:73460000-73461800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr9:73461200-73461800	Enhancers	Fetal Intestine Large	intestine
12	chr9:73461400-73482000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:73461800-73462200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:73461800-73462400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:73462200-73463600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:73462400-73462600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:73462600-73463600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
18	chr9:73463600-73471000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:73463600-73472800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr9:73465400-73466200	Enhancers	Fetal Heart	heart
21	chr9:73465600-73466000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:73466200-73483000	Weak transcription	Fetal Heart	heart

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