Variant report

Variant	esv13599
Chromosome Location	chr9:73442098-73444722
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	chr9:73444671..73446779-chr9:73448314..73450749,2	K562	blood:

Extended variants
information (count: 103 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554454676	chr9:73442103-73442104	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572669612	chr9:73442137-73442138	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141065391	chr9:73442212-73442213	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs367653749	chr9:73442247-73442248	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576866992	chr9:73442248-73442249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535695744	chr9:73442283-73442284	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1034542	chr9:73442357-73442358	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115790882	chr9:73442371-73442372	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148836583	chr9:73442400-73442401	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564843512	chr9:73442409-73442410	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2011851	chr9:73442413-73442414	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs73647170	chr9:73442416-73442417	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190903307	chr9:73442433-73442434	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529834420	chr9:73442450-73442451	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2011853	chr9:73442452-73442453	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569621845	chr9:73442540-73442541	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577642994	chr9:73442582-73442583	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537060135	chr9:73442600-73442601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147970255	chr9:73442605-73442606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570458991	chr9:73442607-73442608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76144502	chr9:73442634-73442635	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1034539	chr9:73442635-73442636	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs41287377	chr9:73442652-73442653	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs1034538	chr9:73442724-73442725	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs367820869	chr9:73442730-73442731	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375279808	chr9:73442731-73442732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561586173	chr9:73442746-73442747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141794519	chr9:73442753-73442754	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147361511	chr9:73442837-73442838	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139537011	chr9:73442843-73442844	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201646902	chr9:73442845-73442846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530642805	chr9:73442874-73442875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143956848	chr9:73442890-73442891	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376572718	chr9:73442926-73442927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369223458	chr9:73442928-73442929	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199878830	chr9:73442994-73442995	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs3750404	chr9:73443035-73443036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576814872	chr9:73443049-73443050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548046915	chr9:73443065-73443066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540960917	chr9:73443122-73443123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113077032	chr9:73443141-73443142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11142605	chr9:73443166-73443167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564095622	chr9:73443184-73443185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548045092	chr9:73443186-73443187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375506790	chr9:73443189-73443190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10868896	chr9:73443204-73443205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530567563	chr9:73443227-73443228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552292784	chr9:73443285-73443286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10780971	chr9:73443293-73443294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs528074357	chr9:73443308-73443309	Weak transcription	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73418200-73444000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr9:73418200-73447400	Weak transcription	Fetal Kidney	kidney
3	chr9:73427600-73483400	Weak transcription	Aorta	Aorta
4	chr9:73437400-73447200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr9:73438200-73444800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr9:73438600-73444800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:73438600-73449000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:73438600-73456800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:73439000-73445000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:73440400-73443000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr9:73440400-73447200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:73441800-73442200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr9:73442000-73442600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr9:73442000-73443000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:73442000-73443200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:73442200-73459800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr9:73442600-73442800	Enhancers	Brain Substantia Nigra	brain
18	chr9:73442600-73443000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:73442600-73443200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:73442800-73444200	Weak transcription	Brain Substantia Nigra	brain
21	chr9:73443000-73444000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:73443000-73444600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:73443000-73453400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:73443200-73444400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:73444000-73446600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:73444000-73448600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr9:73444200-73446000	Enhancers	Brain Substantia Nigra	brain
28	chr9:73444400-73444800	Enhancers	Fetal Brain Female	brain
29	chr9:73444400-73445200	Enhancers	Brain Germinal Matrix	brain
30	chr9:73444400-73445600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr9:73444400-73446200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:73444600-73445200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr9:73444600-73445600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:73444600-73445800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:73444600-73446000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:73444600-73446000	Enhancers	Brain Hippocampus Middle	brain

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