Variant report

Variant	esv3451136
Chromosome Location	chr9:86514032-86517530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 132 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532756851	chr9:86514099-86514100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551006895	chr9:86514118-86514119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571033899	chr9:86514145-86514146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1034187	chr9:86514207-86514208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538566143	chr9:86514209-86514210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550073232	chr9:86514250-86514251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2483192	chr9:86514267-86514268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2780081	chr9:86514326-86514327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535905021	chr9:86514382-86514383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397835003	chr9:86514430-86514431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554319891	chr9:86514439-86514440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2780082	chr9:86514441-86514442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572615389	chr9:86514443-86514444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539840359	chr9:86514444-86514445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114730296	chr9:86514455-86514456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576220576	chr9:86514457-86514458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543719973	chr9:86514494-86514495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186819231	chr9:86514504-86514505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192691910	chr9:86514527-86514528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540866993	chr9:86514556-86514557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184157163	chr9:86514558-86514559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202084005	chr9:86514561-86514562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367802777	chr9:86514562-86514563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532889896	chr9:86514576-86514577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147660786	chr9:86514583-86514584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556174788	chr9:86514597-86514598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550945409	chr9:86514598-86514599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563312563	chr9:86514600-86514601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531884922	chr9:86514615-86514616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142359340	chr9:86514621-86514622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146525855	chr9:86514624-86514625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371540279	chr9:86514626-86514627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138849280	chr9:86514659-86514660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149402364	chr9:86514701-86514702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576376550	chr9:86514728-86514729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2780084	chr9:86514735-86514736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529503722	chr9:86514753-86514754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397835004	chr9:86514755-86514756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2780085	chr9:86514756-86514757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566158791	chr9:86514778-86514779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372843448	chr9:86514829-86514830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557836348	chr9:86514867-86514868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145768743	chr9:86514880-86514881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377156945	chr9:86514883-86514884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536905454	chr9:86514891-86514892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555624018	chr9:86514904-86514905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573644966	chr9:86515019-86515020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143019401	chr9:86515021-86515022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116647400	chr9:86515037-86515038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577285341	chr9:86515042-86515043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86460600-86518200	Weak transcription	Thymus	Thymus
2	chr9:86461600-86535400	Weak transcription	Fetal Intestine Small	intestine
3	chr9:86461600-86535400	Weak transcription	Ovary	ovary
4	chr9:86462200-86535200	Weak transcription	Fetal Brain Female	brain
5	chr9:86462600-86535200	Weak transcription	Brain Anterior Caudate	brain
6	chr9:86462800-86515000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:86462800-86518000	Weak transcription	Fetal Intestine Large	intestine
8	chr9:86462800-86518000	Weak transcription	Fetal Stomach	stomach
9	chr9:86481000-86535800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:86482000-86518000	Weak transcription	Left Ventricle	heart
11	chr9:86491000-86535200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:86491200-86535200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr9:86491400-86518000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:86491800-86518200	Weak transcription	Primary B cells from cord blood	blood
15	chr9:86495000-86518000	Weak transcription	Primary T cells from cord blood	blood
16	chr9:86496000-86535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:86496400-86533000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:86496600-86515600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr9:86499400-86518200	Weak transcription	Fetal Muscle Leg	muscle
20	chr9:86499400-86535000	Weak transcription	Fetal Kidney	kidney
21	chr9:86499800-86523200	Weak transcription	Fetal Thymus	thymus
22	chr9:86500000-86534800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr9:86500200-86521200	Weak transcription	Adipose Nuclei	Adipose
24	chr9:86500200-86521200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr9:86500200-86535200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr9:86500200-86535200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr9:86500200-86535600	Weak transcription	Lung	lung
28	chr9:86501200-86514600	Weak transcription	HepG2	liver
29	chr9:86501200-86521600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:86502000-86532400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr9:86502600-86535000	Weak transcription	Fetal Lung	lung
32	chr9:86503000-86518000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:86506400-86534800	Weak transcription	Pancreas	Pancrea
34	chr9:86508200-86518400	Weak transcription	Aorta	Aorta
35	chr9:86508200-86535600	Weak transcription	Esophagus	oesophagus
36	chr9:86508400-86520200	Weak transcription	Liver	Liver
37	chr9:86509000-86521200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr9:86512400-86535400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr9:86512600-86518000	Weak transcription	Spleen	Spleen
40	chr9:86512600-86535400	Weak transcription	Placenta	Placenta
41	chr9:86513200-86534800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:86513800-86518000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:86513800-86519000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr9:86515600-86515800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr9:86516200-86521400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr9:86516200-86535000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:86516400-86517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:86517000-86519800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr9:86517400-86535200	Weak transcription	Primary B cells from peripheral blood	blood

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