Variant report

Variant	esv3482975
Chromosome Location	chr9:12580707-12616472
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	chr9:12607055..12609983-chr9:12671838..12674027,2	K562	blood:
2	chr9:12615022..12617476-chr9:12617492..12619010,2	MCF-7	breast:

Extended variants
information (count: 430 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547251670	chr9:12595605-12595606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116213293	chr9:12595616-12595617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538643610	chr9:12595617-12595618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376454833	chr9:12595660-12595661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150466112	chr9:12595711-12595712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533878049	chr9:12595712-12595713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574996317	chr9:12595738-12595739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539143553	chr9:12595749-12595750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182677582	chr9:12595790-12595791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554382328	chr9:12595803-12595804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187805352	chr9:12595811-12595812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540183589	chr9:12595841-12595842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201057630	chr9:12595865-12595866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201879293	chr9:12595866-12595867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77961228	chr9:12595879-12595880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs71507323	chr9:12595889-12595890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79376660	chr9:12595906-12595907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545425252	chr9:12595915-12595916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs118073831	chr9:12595947-12595948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531069070	chr9:12595950-12595951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189436470	chr9:12598824-12598825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144010408	chr9:12598842-12598843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574785517	chr9:12598856-12598857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34803310	chr9:12598870-12598871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570500664	chr9:12598877-12598878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539575537	chr9:12598888-12598889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540306459	chr9:12598907-12598908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553882215	chr9:12598917-12598918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556262902	chr9:12598955-12598956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570101736	chr9:12598963-12598964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535683106	chr9:12598967-12598968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371933164	chr9:12599022-12599023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555882688	chr9:12599041-12599042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182068930	chr9:12599074-12599075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576940032	chr9:12599080-12599081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545566012	chr9:12599084-12599085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146449959	chr9:12599121-12599122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557820446	chr9:12599151-12599152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs529740114	chr9:12599156-12599157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577688972	chr9:12599183-12599184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573847643	chr9:12599228-12599229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376371802	chr9:12599230-12599231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114661447	chr9:12599266-12599267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542458043	chr9:12599286-12599287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559493844	chr9:12599292-12599293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528412714	chr9:12599300-12599301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551242479	chr9:12599338-12599339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542134310	chr9:12599383-12599384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562545580	chr9:12599386-12599387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367958791	chr9:12599388-12599389	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Renal cell carcinoma	21215367	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12595600-12596000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:12598800-12599800	Enhancers	Fetal Heart	heart
3	chr9:12599800-12604000	Weak transcription	Fetal Heart	heart
4	chr9:12604000-12604400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:12604000-12604600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr9:12604000-12604600	Enhancers	HMEC	breast
7	chr9:12604000-12605200	Enhancers	Fetal Heart	heart
8	chr9:12604000-12605200	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr9:12604200-12604600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:12604200-12604600	Enhancers	Psoas Muscle	Psoas
11	chr9:12604600-12605800	Weak transcription	Psoas Muscle	Psoas
12	chr9:12606000-12606200	Enhancers	Psoas Muscle	Psoas
13	chr9:12612200-12613000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:12612600-12613800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:12615600-12615800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:12615600-12615800	Enhancers	Fetal Lung	lung
17	chr9:12615800-12616600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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