Variant report

Variant	esv2761537
Chromosome Location	chr9:86202457-86205804
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:86200525..86203058-chr9:86203501..86205074,2	MCF-7	breast:
2	chr17:56722594..56724165-chr9:86201606..86203170,2	MCF-7	breast:
3	chr9:86200525..86203058-chr9:86203501..86205074,2	MCF-7	breast:

Extended variants
information (count: 123 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10780611	chr9:86202486-86202487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545202839	chr9:86202519-86202520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181255939	chr9:86202531-86202532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185366250	chr9:86202631-86202632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117096923	chr9:86202676-86202677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559400266	chr9:86202710-86202711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545714772	chr9:86202854-86202855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190805817	chr9:86202981-86202982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111948868	chr9:86202994-86202995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17321800	chr9:86203042-86203043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs564762514	chr9:86203140-86203141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532111513	chr9:86203177-86203178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550282077	chr9:86203213-86203214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144261939	chr9:86203217-86203218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146585009	chr9:86203233-86203234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12001341	chr9:86203246-86203247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs143841367	chr9:86203294-86203295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151325264	chr9:86203300-86203301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17086501	chr9:86203301-86203302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs368585896	chr9:86203322-86203323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182635725	chr9:86203328-86203329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76101629	chr9:86203331-86203332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557037730	chr9:86203349-86203350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575701355	chr9:86203461-86203462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376636543	chr9:86203482-86203483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35365776	chr9:86203528-86203529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561107843	chr9:86203539-86203540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74847615	chr9:86203549-86203550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540562255	chr9:86203560-86203561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565206527	chr9:86203574-86203575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566279634	chr9:86203587-86203588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546883332	chr9:86203593-86203594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534377471	chr9:86203598-86203599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554249491	chr9:86203599-86203600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550562428	chr9:86203600-86203601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562300679	chr9:86203624-86203625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529783928	chr9:86203656-86203657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574092130	chr9:86203694-86203695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187376245	chr9:86203702-86203703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567551383	chr9:86203704-86203705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150485578	chr9:86203766-86203767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192270416	chr9:86203787-86203788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571923405	chr9:86203798-86203799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538922420	chr9:86203823-86203824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557325420	chr9:86203900-86203901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575700476	chr9:86203922-86203923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375529454	chr9:86203926-86203927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368617152	chr9:86203997-86203998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371435367	chr9:86204001-86204002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536778794	chr9:86204002-86204003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86188000-86215200	Weak transcription	Primary T cells from cord blood	blood
2	chr9:86198800-86217800	Weak transcription	Aorta	Aorta
3	chr9:86199600-86207200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:86200600-86202600	Weak transcription	Ovary	ovary
5	chr9:86201200-86202800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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