Variant report

Variant	esv3324765
Chromosome Location	chr9:118643579-118644170
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	chr9:118643492..118644178-chr9:119334404..119335018,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAPPA-5	chr9:118643529-118643617	ucscGeneNc_uc004bjy_1

Extended variants
information (count: 30 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11792658	chr9:118643581-118643582	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535334122	chr9:118643587-118643588	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs11792660	chr9:118643637-118643638	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545897801	chr9:118643639-118643640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143748818	chr9:118643662-118643663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151246038	chr9:118643663-118643664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74718282	chr9:118643664-118643665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553539639	chr9:118643731-118643732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369416319	chr9:118643734-118643735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545105043	chr9:118643739-118643740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558670997	chr9:118643782-118643783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369585756	chr9:118643815-118643816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147023994	chr9:118643829-118643830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188899075	chr9:118643842-118643843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561209819	chr9:118643890-118643891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10982975	chr9:118643904-118643905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10982976	chr9:118643945-118643946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs10982977	chr9:118643950-118643951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565838725	chr9:118643993-118643994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62577138	chr9:118644017-118644018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540259230	chr9:118644038-118644039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560314722	chr9:118644039-118644040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527620883	chr9:118644049-118644050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148441772	chr9:118644087-118644088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551491955	chr9:118644111-118644112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142488355	chr9:118644113-118644114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35616645	chr9:118644122-118644123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551841710	chr9:118644123-118644124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368793589	chr9:118644140-118644141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181234756	chr9:118644161-118644162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118640600-118645000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr9:118640800-118645400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:118641600-118643600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr9:118642200-118645000	Weak transcription	A549	lung
5	chr9:118643000-118644800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:118643200-118645400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:118643400-118643600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr9:118643400-118644600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:118643400-118645400	Weak transcription	Placenta	Placenta
10	chr9:118643600-118645200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:118643600-118645200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr9:118643800-118645000	Weak transcription	Aorta	Aorta

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