Variant report

Variant	esv3326951
Chromosome Location	chr9:136876156-136879104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 214 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:214 , 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	rs571513188	chr9:136876159-136876160	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs532298069	chr9:136876177-136876178	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs551344205	chr9:136876181-136876182	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs569730103	chr9:136876237-136876238	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs537118904	chr9:136876254-136876255	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs555831222	chr9:136876266-136876267	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs540056000	chr9:136876276-136876277	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs567712940	chr9:136876277-136876278	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs183195625	chr9:136876283-136876284	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs553320051	chr9:136876295-136876296	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs79632114	chr9:136876338-136876339	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs545732160	chr9:136876367-136876368	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs556971492	chr9:136876386-136876387	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs187833228	chr9:136876409-136876410	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191959004	chr9:136876419-136876420	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542319190	chr9:136876436-136876437	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548536515	chr9:136876471-136876472	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7046410	chr9:136876489-136876490	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183231006	chr9:136876528-136876529	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540397316	chr9:136876534-136876535	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62575767	chr9:136876538-136876539	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187939224	chr9:136876556-136876557	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532239223	chr9:136876571-136876572	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562145313	chr9:136876621-136876622	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574518790	chr9:136876623-136876624	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575211183	chr9:136876627-136876628	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10993891	chr9:136876646-136876647	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs55645228	chr9:136876682-136876683	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs2810478	chr9:136876740-136876741	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369763796	chr9:136876762-136876763	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542741693	chr9:136876766-136876767	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552002408	chr9:136876784-136876785	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10993892	chr9:136876824-136876825	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10993893	chr9:136876863-136876864	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557697816	chr9:136876872-136876873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35905208	chr9:136876904-136876905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116579617	chr9:136876912-136876913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554294115	chr9:136876948-136876949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35695866	chr9:136876984-136876985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539965807	chr9:136876992-136876993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144330212	chr9:136877002-136877003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531788159	chr9:136877007-136877008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548406720	chr9:136877009-136877010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576630824	chr9:136877011-136877012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544059661	chr9:136877016-136877017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113606931	chr9:136877018-136877019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529973010	chr9:136877021-136877022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527705886	chr9:136877024-136877025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71505247	chr9:136877026-136877027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561142601	chr9:136877028-136877029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Cancer	20581869	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Hepatocellular carcinoma	22174799	CNVD
Bladder cancer	21909424	CNVD
Cancer	17160897	CNVD
Ependymoma	20639864	CNVD
Breast cancer	20932292	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136871800-136877000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:136872000-136876800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:136873000-136876800	Enhancers	Fetal Muscle Trunk	muscle
4	chr9:136874200-136876800	Enhancers	Fetal Muscle Leg	muscle
5	chr9:136875200-136876200	Enhancers	HSMMtube	muscle
6	chr9:136875200-136876400	Enhancers	Liver	Liver
7	chr9:136875400-136876200	Enhancers	Brain Hippocampus Middle	brain
8	chr9:136875400-136876200	Enhancers	Spleen	Spleen
9	chr9:136875400-136876400	Enhancers	Lung	lung
10	chr9:136875600-136876200	Enhancers	Fetal Brain Male	brain
11	chr9:136875600-136876400	Enhancers	Pancreas	Pancrea
12	chr9:136875600-136876800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr9:136875800-136876200	Enhancers	Brain Anterior Caudate	brain
14	chr9:136875800-136876200	Enhancers	Brain Substantia Nigra	brain
15	chr9:136875800-136876200	Enhancers	Duodenum Mucosa	Duodenum
16	chr9:136875800-136876200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr9:136875800-136876200	Enhancers	Right Ventricle	heart
18	chr9:136875800-136876200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
19	chr9:136875800-136876200	Flanking Active TSS	HepG2	liver
20	chr9:136875800-136876200	Enhancers	HUVEC	blood vessel
21	chr9:136875800-136876400	Enhancers	Fetal Heart	heart
22	chr9:136875800-136876600	Enhancers	Stomach Mucosa	stomach
23	chr9:136876000-136876200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
24	chr9:136876000-136876200	Enhancers	Right Atrium	heart
25	chr9:136876000-136876200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr9:136876200-136876400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr9:136876200-136876800	Enhancers	HepG2	liver
28	chr9:136876200-136889800	Weak transcription	Right Atrium	heart
29	chr9:136876600-136876800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:136876600-136876800	Enhancers	Brain Inferior Temporal Lobe	brain

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