Variant report

Variant	esv3424181
Chromosome Location	chr9:92723632-92727930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:92722728..92724376-chr9:92724584..92726100,2	MCF-7	breast:
2	chr9:92717917..92719509-chr9:92721861..92724237,2	MCF-7	breast:
3	chr9:92725702..92727913-chr9:92735894..92737727,2	K562	blood:
4	chr9:92722728..92724376-chr9:92724584..92726100,2	MCF-7	breast:
5	chr9:92710212..92712786-chr9:92722735..92725255,2	MCF-7	breast:
6	chr9:92219486..92222426-chr9:92726287..92727881,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130222	chromatin interactions

Extended variants
information (count: 218 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532742639	chr9:92723657-92723658	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs193269101	chr9:92723670-92723671	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs721831	chr9:92723673-92723674	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541025822	chr9:92723678-92723679	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs115890352	chr9:92723685-92723686	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533310340	chr9:92723686-92723687	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs372264599	chr9:92723700-92723701	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs563507696	chr9:92723737-92723738	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs34049622	chr9:92723784-92723785	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs184602092	chr9:92723817-92723818	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs549317644	chr9:92723818-92723819	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs147137269	chr9:92723843-92723844	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs721830	chr9:92723871-92723872	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs721833	chr9:92723877-92723878	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs721832	chr9:92723928-92723929	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572262996	chr9:92723956-92723957	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556606288	chr9:92723958-92723959	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs112082923	chr9:92723998-92723999	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs141373466	chr9:92724002-92724003	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556033916	chr9:92724005-92724006	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186755759	chr9:92724016-92724017	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191227259	chr9:92724030-92724031	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150789640	chr9:92724046-92724047	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557893576	chr9:92724056-92724057	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114397945	chr9:92724060-92724061	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543946923	chr9:92724061-92724062	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376092487	chr9:92724081-92724082	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77379634	chr9:92724083-92724084	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563741701	chr9:92724113-92724114	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72752991	chr9:92724115-92724116	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553140403	chr9:92724132-92724133	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550018606	chr9:92724154-92724155	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559497919	chr9:92724199-92724200	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528406599	chr9:92724222-92724223	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs545470128	chr9:92724224-92724225	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs551640252	chr9:92724235-92724236	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs714360	chr9:92724274-92724275	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs149925488	chr9:92724276-92724277	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs184138273	chr9:92724355-92724356	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs189843728	chr9:92724366-92724367	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs541703628	chr9:92724392-92724393	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs181114762	chr9:92724429-92724430	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs55865562	chr9:92724560-92724561	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7863792	chr9:92724562-92724563	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114975253	chr9:92724569-92724570	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549357508	chr9:92724579-92724580	Flanking Active TSS Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35098201	chr9:92724611-92724612	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566241634	chr9:92724679-92724680	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535038958	chr9:92724740-92724741	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558393141	chr9:92724744-92724745	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:92716800-92724000	Weak transcription	Esophagus	oesophagus
2	chr9:92717000-92724200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr9:92718400-92724000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:92719600-92724200	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:92719800-92723800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr9:92720600-92724000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr9:92721200-92723800	Weak transcription	NHDF-Ad	bronchial
8	chr9:92722600-92725400	Enhancers	Fetal Muscle Leg	muscle
9	chr9:92723000-92724000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:92723200-92724400	Enhancers	Pancreas	Pancrea
11	chr9:92723400-92723800	Enhancers	Colonic Mucosa	Colon
12	chr9:92723400-92724000	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr9:92723400-92724000	Enhancers	HSMM	muscle
14	chr9:92723400-92724200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr9:92723400-92724200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr9:92723400-92724200	Enhancers	Rectal Smooth Muscle	rectum
17	chr9:92723400-92724800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr9:92723400-92725000	Enhancers	Fetal Intestine Small	intestine
19	chr9:92723400-92725200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr9:92723400-92725600	Enhancers	Lung	lung
21	chr9:92723400-92725800	Enhancers	Spleen	Spleen
22	chr9:92723600-92724000	Enhancers	Dnd41	blood
23	chr9:92723600-92724000	Enhancers	HSMMtube	muscle
24	chr9:92723600-92724000	Enhancers	NHLF	lung
25	chr9:92723600-92724200	Enhancers	Ovary	ovary
26	chr9:92723600-92724200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr9:92723600-92724200	Enhancers	Thymus	Thymus
28	chr9:92723600-92724800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr9:92723600-92725000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr9:92723600-92725000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr9:92723600-92725200	Enhancers	Fetal Muscle Trunk	muscle
32	chr9:92723600-92726000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr9:92723600-92727800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr9:92723800-92724000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:92723800-92724000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr9:92723800-92724000	Enhancers	Primary T cells from cord blood	blood
37	chr9:92723800-92724000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:92723800-92724000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr9:92723800-92724000	Enhancers	Adipose Nuclei	Adipose
40	chr9:92723800-92724000	Enhancers	Stomach Smooth Muscle	stomach
41	chr9:92723800-92724000	Enhancers	Osteobl	bone
42	chr9:92723800-92724200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr9:92723800-92724200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr9:92723800-92724200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr9:92723800-92724200	Enhancers	NHDF-Ad	bronchial
46	chr9:92723800-92724800	Active TSS	Colonic Mucosa	Colon
47	chr9:92723800-92725000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr9:92723800-92725000	Enhancers	Fetal Thymus	thymus
49	chr9:92723800-92725000	Enhancers	Small Intestine	intestine
50	chr9:92723800-92725200	Enhancers	Fetal Lung	lung

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