Variant report

Variant	esv3482600
Chromosome Location	chr9:104496270-104498449
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	chr9:104493214..104495968-chr9:104498085..104500159,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79772938	chr9:104496302-104496303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540135941	chr9:104496375-104496376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183576606	chr9:104496376-104496377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1337678	chr9:104496390-104496391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78539576	chr9:104496397-104496398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561759143	chr9:104496457-104496458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535413299	chr9:104496466-104496467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs367642405	chr9:104496495-104496496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555416821	chr9:104496545-104496546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112598725	chr9:104496594-104496595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541411598	chr9:104496696-104496697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201580338	chr9:104496700-104496701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2069324	chr9:104496723-104496724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2900316	chr9:104496740-104496741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2069325	chr9:104496792-104496793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs536211865	chr9:104496834-104496835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77678561	chr9:104496853-104496854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186927073	chr9:104496878-104496879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191776294	chr9:104496905-104496906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540121573	chr9:104496938-104496939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560046223	chr9:104496959-104496960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35122541	chr9:104496983-104496984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529175100	chr9:104497011-104497012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62577460	chr9:104497094-104497095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562123425	chr9:104497103-104497104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530863880	chr9:104497123-104497124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551101815	chr9:104497147-104497148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183511780	chr9:104497176-104497177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186683834	chr9:104497222-104497223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569714734	chr9:104497227-104497228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150004651	chr9:104497235-104497236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564646948	chr9:104497237-104497238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199583453	chr9:104497246-104497247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193006265	chr9:104497342-104497343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145279565	chr9:104497348-104497349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555014215	chr9:104497411-104497412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145000123	chr9:104497442-104497443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371227605	chr9:104497445-104497446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568879361	chr9:104497449-104497450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149189214	chr9:104497457-104497458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145134206	chr9:104497487-104497488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577397024	chr9:104497540-104497541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533713281	chr9:104497547-104497548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7848096	chr9:104497569-104497570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs573559062	chr9:104497599-104497600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542516504	chr9:104497637-104497638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561934241	chr9:104497638-104497639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575636379	chr9:104497662-104497663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138941541	chr9:104497680-104497681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185671552	chr9:104497685-104497686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
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
Neuroblastoma	20406844	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104494200-104499600	Weak transcription	Liver	Liver
2	chr9:104497800-104500000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:104497800-104501200	Active TSS	Pancreatic Islets	Pancreatic Islet

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