Variant report

Variant	esv2513312
Chromosome Location	chr9:108555915-108584051
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 493 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187022208	chr9:108555970-108555971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs34059779	chr9:108555978-108555979	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371517220	chr9:108555984-108555985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs562955183	chr9:108556005-108556006	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs6477465	chr9:108556056-108556057	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs143685515	chr9:108556087-108556088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs573333745	chr9:108556110-108556111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs148116158	chr9:108556111-108556112	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369967451	chr9:108556115-108556116	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs535730776	chr9:108556126-108556127	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs143938210	chr9:108556166-108556167	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs372294994	chr9:108556167-108556168	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs572182272	chr9:108556176-108556177	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs542619839	chr9:108556186-108556187	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532973406	chr9:108556206-108556207	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs539569078	chr9:108556216-108556217	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs147239454	chr9:108556225-108556226	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs192056252	chr9:108556266-108556267	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs182880013	chr9:108556267-108556268	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562063153	chr9:108556281-108556282	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs574296060	chr9:108556282-108556283	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs541696160	chr9:108556329-108556330	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs559725409	chr9:108556428-108556429	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs187114186	chr9:108556429-108556430	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs551863952	chr9:108556430-108556431	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs563790838	chr9:108556452-108556453	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs531301922	chr9:108556472-108556473	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs139071881	chr9:108556485-108556486	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs551357488	chr9:108556501-108556502	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs572560967	chr9:108556505-108556506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs535409841	chr9:108556510-108556511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs531600599	chr9:108556513-108556514	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs541079916	chr9:108556534-108556535	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs547640117	chr9:108556582-108556583	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs565750919	chr9:108556585-108556586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs71493293	chr9:108556632-108556633	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs537145970	chr9:108556640-108556641	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs78372824	chr9:108556642-108556643	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs539580328	chr9:108556658-108556659	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs13283916	chr9:108556675-108556676	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs191618734	chr9:108556698-108556699	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs537533980	chr9:108556730-108556731	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs369556356	chr9:108556781-108556782	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs555834783	chr9:108556783-108556784	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs573959538	chr9:108556784-108556785	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs541384998	chr9:108556792-108556793	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs77182952	chr9:108556793-108556794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs578111341	chr9:108556800-108556801	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs147541408	chr9:108556806-108556807	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs182414153	chr9:108556811-108556812	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108515200-108560600	Weak transcription	Ovary	ovary
2	chr9:108549400-108565000	Weak transcription	Psoas Muscle	Psoas
3	chr9:108552000-108561000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:108555800-108556200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr9:108555800-108558000	Weak transcription	Primary B cells from cord blood	blood
6	chr9:108558000-108558600	Strong transcription	Primary B cells from cord blood	blood
7	chr9:108558400-108558600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:108558600-108559000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
9	chr9:108558600-108559600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:108558600-108560200	Weak transcription	Primary B cells from cord blood	blood
11	chr9:108559000-108562200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:108560600-108561000	ZNF genes & repeats	Ovary	ovary
13	chr9:108562200-108562600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr9:108562600-108563200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:108562600-108563600	Weak transcription	Primary hematopoietic stem cells	blood

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