Variant report

Variant	esv3426604
Chromosome Location	chr9:102483131-102485179
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	chr9:102482457..102484656-chr9:102484731..102487139,2	MCF-7	breast:
2	chr9:102482457..102484656-chr9:102484731..102487139,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373930647	chr9:102483148-102483149	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs567447646	chr9:102483210-102483211	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs185824074	chr9:102483221-102483222	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs144653245	chr9:102483343-102483344	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs555288584	chr9:102483358-102483359	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569086984	chr9:102483387-102483388	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148693925	chr9:102483424-102483425	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190169909	chr9:102483434-102483435	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs543373962	chr9:102483444-102483445	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs577697331	chr9:102483480-102483481	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs10115479	chr9:102483492-102483493	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs540262132	chr9:102483503-102483504	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs561553444	chr9:102483674-102483675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4742772	chr9:102483714-102483715	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs74331351	chr9:102483716-102483717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559512675	chr9:102483736-102483737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142216730	chr9:102483740-102483741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562940232	chr9:102483876-102483877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183204583	chr9:102483920-102483921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545364936	chr9:102483939-102483940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553399122	chr9:102484079-102484080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565270284	chr9:102484105-102484106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72744675	chr9:102484128-102484129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs151208598	chr9:102484146-102484147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139283652	chr9:102484189-102484190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188350411	chr9:102484190-102484191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13295607	chr9:102484204-102484205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550296367	chr9:102484286-102484287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551770942	chr9:102484366-102484367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538079417	chr9:102484474-102484475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558064153	chr9:102484489-102484490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542348653	chr9:102484563-102484564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571589211	chr9:102484642-102484643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563973264	chr9:102484652-102484653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192337970	chr9:102484700-102484701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs60185871	chr9:102484701-102484702	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs531131316	chr9:102484708-102484709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573631414	chr9:102484756-102484757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542351933	chr9:102484780-102484781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556263626	chr9:102484789-102484790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371227580	chr9:102484803-102484804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545224203	chr9:102484833-102484834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11791618	chr9:102484859-102484860	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs144078417	chr9:102484878-102484879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554957482	chr9:102484893-102484894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540985594	chr9:102484987-102484988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561124279	chr9:102485015-102485016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146459558	chr9:102485061-102485062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549993298	chr9:102485081-102485082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563835087	chr9:102485102-102485103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102481800-102483600	Enhancers	Fetal Brain Female	brain
2	chr9:102481800-102488200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:102482200-102483200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr9:102482400-102483200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
5	chr9:102482400-102483200	Enhancers	Small Intestine	intestine
6	chr9:102482400-102483400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr9:102482400-102483600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr9:102482400-102483600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr9:102482600-102483200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr9:102482600-102483200	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr9:102482600-102483200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr9:102482600-102483400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr9:102482600-102483400	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr9:102482600-102483400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr9:102482600-102483400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr9:102482600-102483400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr9:102482600-102483400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:102482600-102483400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr9:102482600-102483400	Active TSS	Osteobl	bone
20	chr9:102482600-102483600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:102482800-102483200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr9:102482800-102483200	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr9:102482800-102483200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr9:102482800-102483200	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr9:102482800-102483200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr9:102482800-102483200	Active TSS	Brain Angular Gyrus	brain
27	chr9:102482800-102483200	Active TSS	Brain Anterior Caudate	brain
28	chr9:102482800-102483200	Active TSS	Duodenum Mucosa	Duodenum
29	chr9:102482800-102483200	Active TSS	Left Ventricle	heart
30	chr9:102482800-102483200	Active TSS	Ovary	ovary
31	chr9:102482800-102483200	Active TSS	Psoas Muscle	Psoas
32	chr9:102482800-102483200	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr9:102482800-102483200	Active TSS	Right Atrium	heart
34	chr9:102482800-102483200	Flanking Active TSS	Thymus	Thymus
35	chr9:102482800-102483200	Flanking Active TSS	Dnd41	blood
36	chr9:102482800-102483400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:102482800-102483400	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr9:102482800-102483400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr9:102482800-102483400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:102482800-102483400	Active TSS	Brain Hippocampus Middle	brain
41	chr9:102482800-102483400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr9:102482800-102483400	Active TSS	NHLF	lung
43	chr9:102482800-102483600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:102483000-102483200	Active TSS	Primary T cells fromperipheralblood	blood
45	chr9:102483000-102483200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr9:102483000-102483200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr9:102483000-102483200	Active TSS	Fetal Thymus	thymus
48	chr9:102483000-102483200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr9:102483000-102483400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:102483000-102483400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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