Variant report

Variant	esv3412930
Chromosome Location	chr9:73646132-73648130
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 116 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541031171	chr9:73646190-73646191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552647405	chr9:73646203-73646204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572743802	chr9:73646217-73646218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7031370	chr9:73646227-73646228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs78083393	chr9:73646263-73646264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75397866	chr9:73646280-73646281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73647935	chr9:73646282-73646283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565387846	chr9:73646289-73646290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532456861	chr9:73646373-73646374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117169957	chr9:73646382-73646383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565928644	chr9:73646478-73646479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530040194	chr9:73646485-73646486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75295669	chr9:73646487-73646488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569584163	chr9:73646509-73646510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532108428	chr9:73646525-73646526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536860694	chr9:73646575-73646576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72614629	chr9:73646601-73646602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs36031696	chr9:73646606-73646607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377676411	chr9:73646655-73646656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551900914	chr9:73646670-73646671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534416473	chr9:73646697-73646698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552971636	chr9:73646710-73646711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574334889	chr9:73646751-73646752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552209330	chr9:73646768-73646769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541819334	chr9:73646809-73646810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373458251	chr9:73646874-73646875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200868063	chr9:73646875-73646876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72340097	chr9:73646876-73646877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368919012	chr9:73646878-73646879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372414119	chr9:73646880-73646881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369754210	chr9:73646884-73646885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12552758	chr9:73646888-73646889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376714552	chr9:73646895-73646896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370856557	chr9:73646897-73646898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372856948	chr9:73646901-73646902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77731943	chr9:73646904-73646905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111853657	chr9:73646909-73646910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377461969	chr9:73646910-73646911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374671884	chr9:73646911-73646912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371152900	chr9:73646915-73646916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375322902	chr9:73646917-73646918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372224250	chr9:73646918-73646919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368361090	chr9:73646920-73646921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74494247	chr9:73646923-73646924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77443778	chr9:73646929-73646930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs812671	chr9:73646931-73646932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28539888	chr9:73646932-73646933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150033376	chr9:73646935-73646936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375300563	chr9:73646937-73646938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7024585	chr9:73646942-73646943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73641600-73652600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:73643800-73684000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:73647400-73648200	Enhancers	Liver	Liver
4	chr9:73647600-73651000	Weak transcription	Brain Substantia Nigra	brain

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