Variant report

Variant	esv1829675
Chromosome Location	chr9:108535272-108538044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:108455793..108458148-chr9:108533070..108535920,2	K562	blood:
2	chr9:108526044..108528062-chr9:108534104..108535847,2	MCF-7	breast:
3	chr9:108532137..108533710-chr9:108537549..108539905,2	K562	blood:
4	chr9:108530827..108532419-chr9:108534650..108537088,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAL2-4	chr9:108530807-108535529	NONHSAT133828

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TMEM38B	hsa-miR-98-5p	chr9:108536391-108536413

Variant related genes	Relation type
ENSG00000095209	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10978240	chr9:108535272-108535273	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549546996	chr9:108535278-108535279	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs1979992	chr9:108535330-108535331	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs529025521	chr9:108535396-108535397	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs564473854	chr9:108535418-108535419	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs576573158	chr9:108535427-108535428	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs547471159	chr9:108535485-108535486	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs544361175	chr9:108535511-108535512	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs75383848	chr9:108535559-108535560	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529738672	chr9:108535565-108535566	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs149567621	chr9:108535581-108535582	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183885893	chr9:108535626-108535627	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188224676	chr9:108535710-108535711	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552443622	chr9:108535728-108535729	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570596268	chr9:108535733-108535734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73522017	chr9:108535762-108535763	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549892527	chr9:108535784-108535785	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568186825	chr9:108535820-108535821	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115745465	chr9:108535832-108535833	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375259569	chr9:108535836-108535837	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs553840427	chr9:108535849-108535850	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572702467	chr9:108535928-108535929	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111751132	chr9:108535948-108535949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73667013	chr9:108536021-108536022	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs377356068	chr9:108536061-108536062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573444240	chr9:108536065-108536066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114774406	chr9:108536099-108536100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200806277	chr9:108536124-108536125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201882609	chr9:108536147-108536148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370443289	chr9:108536174-108536175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147537065	chr9:108536186-108536187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574546409	chr9:108536188-108536189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541852094	chr9:108536193-108536194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544557246	chr9:108536206-108536207	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34436818	chr9:108536207-108536208	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144364513	chr9:108536217-108536218	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140157299	chr9:108536233-108536234	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs199855840	chr9:108536235-108536236	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368552144	chr9:108536238-108536239	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35232724	chr9:108536246-108536247	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs369672224	chr9:108536268-108536269	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144909965	chr9:108536279-108536280	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149026877	chr9:108536284-108536285	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148378635	chr9:108536288-108536289	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146026425	chr9:108536303-108536304	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146683657	chr9:108536317-108536318	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140344242	chr9:108536321-108536322	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145425586	chr9:108536360-108536361	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200884909	chr9:108536367-108536368	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371772464	chr9:108536376-108536377	Weak transcription Strong transcription ZNF genes & repeats Enhancers	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108514000-108540000	Weak transcription	HSMMtube	muscle
2	chr9:108515200-108545000	Weak transcription	K562	blood
3	chr9:108515200-108560600	Weak transcription	Ovary	ovary
4	chr9:108515400-108536800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:108515600-108538600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:108517800-108538400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:108520600-108546400	Weak transcription	Fetal Intestine Small	intestine
8	chr9:108521000-108538400	Weak transcription	Primary B cells from cord blood	blood
9	chr9:108530400-108552600	Weak transcription	Pancreas	Pancrea
10	chr9:108533000-108537000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:108533200-108535600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr9:108534400-108538400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr9:108534400-108538400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr9:108534400-108539600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:108534600-108538400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr9:108534800-108535800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:108534800-108538600	Weak transcription	Fetal Heart	heart
18	chr9:108535000-108540800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:108535200-108536600	Strong transcription	Primary hematopoietic stem cells	blood
20	chr9:108535800-108536200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:108535800-108538600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:108536000-108539200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr9:108536200-108536400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:108536200-108536400	ZNF genes & repeats	Aorta	Aorta
25	chr9:108536200-108536600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:108536600-108538200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr9:108536600-108538200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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