Variant report

Variant	esv3429656
Chromosome Location	chr9:116588531-116590629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143498717	chr9:116588587-116588588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112579843	chr9:116588589-116588590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551240037	chr9:116588629-116588630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183087218	chr9:116588639-116588640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187062856	chr9:116588752-116588753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550708533	chr9:116588753-116588754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567350049	chr9:116588912-116588913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371283009	chr9:116588927-116588928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552829252	chr9:116589026-116589027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138006790	chr9:116589035-116589036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538687356	chr9:116589054-116589055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559286628	chr9:116589089-116589090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560782726	chr9:116589167-116589168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192916140	chr9:116589227-116589228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575969365	chr9:116589229-116589230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535708623	chr9:116589351-116589352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201108078	chr9:116589401-116589402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142848574	chr9:116589405-116589406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200597469	chr9:116589409-116589410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35015775	chr9:116589484-116589485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72170640	chr9:116589485-116589486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71492763	chr9:116589488-116589489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61367934	chr9:116589489-116589490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147505338	chr9:116589629-116589630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201049916	chr9:116589637-116589638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555117720	chr9:116589758-116589759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13302495	chr9:116589760-116589761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12353530	chr9:116589772-116589773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572811708	chr9:116589807-116589808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560239613	chr9:116589816-116589817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532367101	chr9:116589822-116589823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545834099	chr9:116589936-116589937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562549913	chr9:116589954-116589955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138457149	chr9:116589961-116589962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368759923	chr9:116589970-116589971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550620738	chr9:116589971-116589972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182383499	chr9:116589993-116589994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117752414	chr9:116590004-116590005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546673887	chr9:116590093-116590094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188019857	chr9:116590188-116590189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11536809	chr9:116590202-116590203	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs376034203	chr9:116590225-116590226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558541765	chr9:116590226-116590227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564747064	chr9:116590228-116590229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545099049	chr9:116590237-116590238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142018155	chr9:116590240-116590241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538498257	chr9:116590290-116590291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554999892	chr9:116590332-116590333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574954058	chr9:116590543-116590544	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs193091553	chr9:116590558-116590559	Active TSS Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116585000-116590800	Weak transcription	Aorta	Aorta
2	chr9:116586200-116590400	Weak transcription	NH-A	brain
3	chr9:116586400-116590400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:116587800-116590200	Weak transcription	HUVEC	blood vessel
5	chr9:116588400-116588600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:116590200-116590400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr9:116590200-116590400	Enhancers	HUVEC	blood vessel
8	chr9:116590200-116590600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:116590200-116591000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:116590400-116590600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:116590400-116590600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr9:116590400-116590600	Flanking Active TSS	Osteobl	bone
13	chr9:116590400-116591000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:116590400-116591000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:116590400-116591000	Flanking Active TSS	HUVEC	blood vessel
16	chr9:116590400-116591000	Enhancers	NH-A	brain
17	chr9:116590400-116591000	Active TSS	NHLF	lung
18	chr9:116590600-116590800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr9:116590600-116590800	Active TSS	Osteobl	bone
20	chr9:116590600-116591000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:116590600-116591000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:116590600-116591000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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