Variant report

Variant	esv3483226
Chromosome Location	chr9:118562267-118574938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 480 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542090121	chr9:118562325-118562326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561962105	chr9:118562365-118562366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181340350	chr9:118562388-118562389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185310032	chr9:118562404-118562405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564015603	chr9:118562405-118562406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532978053	chr9:118562441-118562442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549489795	chr9:118562454-118562455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189726654	chr9:118562531-118562532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111275519	chr9:118562603-118562604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560501375	chr9:118562640-118562641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535761453	chr9:118562656-118562657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7027464	chr9:118562682-118562683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182113972	chr9:118562690-118562691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534810572	chr9:118562726-118562727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554284862	chr9:118562786-118562787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189120363	chr9:118562862-118562863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539849557	chr9:118562883-118562884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556305226	chr9:118562927-118562928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575995913	chr9:118562937-118562938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372912553	chr9:118562953-118562954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555637135	chr9:118563044-118563045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374645552	chr9:118563070-118563071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192049966	chr9:118563158-118563159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184032503	chr9:118563161-118563162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188538008	chr9:118563181-118563182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531391929	chr9:118563200-118563201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532904539	chr9:118563201-118563202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191992428	chr9:118563228-118563229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563145394	chr9:118563255-118563256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376678553	chr9:118563382-118563383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10982922	chr9:118563428-118563429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs549346521	chr9:118563441-118563442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565972317	chr9:118563448-118563449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528331710	chr9:118563481-118563482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551267829	chr9:118563482-118563483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571392925	chr9:118563491-118563492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539565099	chr9:118563497-118563498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556582440	chr9:118563519-118563520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569719765	chr9:118563526-118563527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552742944	chr9:118563534-118563535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535447592	chr9:118563539-118563540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35813716	chr9:118563573-118563574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200758489	chr9:118563592-118563593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572382874	chr9:118563618-118563619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541683728	chr9:118563624-118563625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558081493	chr9:118563627-118563628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578090632	chr9:118563635-118563636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543154463	chr9:118563677-118563678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10982923	chr9:118563727-118563728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528939228	chr9:118563755-118563756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Breast cancer	21509527	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Neurodevelopmental disorder	0	CNVD
Intellectual disability	21811512	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118553400-118566400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:118566400-118566600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:118566400-118566800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr9:118566400-118567000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr9:118566400-118567000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:118566800-118585800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:118567000-118586200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:118569800-118571200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:118570000-118570600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:118570200-118571000	Enhancers	Hela-S3	cervix
11	chr9:118570400-118571000	Enhancers	Liver	Liver
12	chr9:118570400-118571200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:118570400-118572600	Enhancers	HMEC	breast
14	chr9:118570400-118573000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:118570600-118570800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:118570600-118571200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr9:118570600-118571600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr9:118570600-118571600	Enhancers	Osteobl	bone
19	chr9:118570600-118572600	Enhancers	NHEK	skin
20	chr9:118570800-118571000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:118570800-118571000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:118570800-118571600	Enhancers	A549	lung
23	chr9:118570800-118571600	Enhancers	NHLF	lung
24	chr9:118570800-118572800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:118571000-118571200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:118571000-118571600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:118571200-118571800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:118571400-118571800	Enhancers	NHDF-Ad	bronchial
29	chr9:118571600-118572400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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