Variant report

Variant	esv3401939
Chromosome Location	chr2:10339851-10341849
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	chr2:10331138..10333960-chr2:10340461..10341964,2	K562	blood:
2	chr2:10339278..10341450-chr2:10342848..10344717,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYS1-7	chr2:10341367-10341629	NONHSAT069093

Variant related genes	Relation type
ENSG00000265418	chromatin interactions

Extended variants
information (count: 125 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62127596	chr2:10339874-10339875	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566246271	chr2:10339916-10339917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202208894	chr2:10339919-10339920	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13024320	chr2:10339926-10339927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs57474218	chr2:10339932-10339933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370071686	chr2:10339936-10339937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537887587	chr2:10339945-10339946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34953170	chr2:10339968-10339969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556217599	chr2:10339970-10339971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113135494	chr2:10340009-10340010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371513069	chr2:10340037-10340038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541983844	chr2:10340073-10340074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7592001	chr2:10340082-10340083	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572598145	chr2:10340127-10340128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551516626	chr2:10340131-10340132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35699715	chr2:10340179-10340180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55983661	chr2:10340218-10340219	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs191085702	chr2:10340239-10340240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372931379	chr2:10340248-10340249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532114119	chr2:10340291-10340292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79878637	chr2:10340305-10340306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182469659	chr2:10340306-10340307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147805284	chr2:10340343-10340344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186747359	chr2:10340380-10340381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55776542	chr2:10340432-10340433	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566668149	chr2:10340434-10340435	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573421888	chr2:10340468-10340469	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527532101	chr2:10340491-10340492	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs72788359	chr2:10340525-10340526	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183390415	chr2:10340528-10340529	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78749283	chr2:10340530-10340531	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115389274	chr2:10340532-10340533	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs568171039	chr2:10340537-10340538	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371939413	chr2:10340550-10340551	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs55908106	chr2:10340556-10340557	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs141245629	chr2:10340557-10340558	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553889610	chr2:10340558-10340559	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368674664	chr2:10340561-10340562	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs56128314	chr2:10340563-10340564	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs377233091	chr2:10340579-10340580	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs193171880	chr2:10340581-10340582	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs61144106	chr2:10340584-10340585	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534523115	chr2:10340587-10340588	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540024498	chr2:10340589-10340590	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs4669552	chr2:10340592-10340593	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs4669553	chr2:10340594-10340595	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543777007	chr2:10340612-10340613	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs7595194	chr2:10340615-10340616	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573579968	chr2:10340618-10340619	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542578069	chr2:10340620-10340621	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10290200-10351400	Strong transcription	Dnd41	blood
2	chr2:10313000-10344400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:10314000-10340400	Weak transcription	HepG2	liver
4	chr2:10325600-10342800	Weak transcription	Fetal Brain Female	brain
5	chr2:10333000-10347000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:10335200-10348600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:10336800-10344600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:10337200-10342800	Weak transcription	Gastric	stomach
9	chr2:10337200-10349600	Weak transcription	Spleen	Spleen
10	chr2:10337600-10342800	Weak transcription	Fetal Brain Male	brain
11	chr2:10338600-10351200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:10338800-10342400	Weak transcription	K562	blood
13	chr2:10338800-10344400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:10339200-10345400	Weak transcription	Fetal Thymus	thymus
15	chr2:10339200-10345600	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:10339400-10342400	Weak transcription	Fetal Stomach	stomach
17	chr2:10339400-10342600	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:10339400-10343000	Weak transcription	Thymus	Thymus
19	chr2:10339400-10350600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:10339400-10362000	Weak transcription	Fetal Intestine Small	intestine
21	chr2:10340000-10344000	Weak transcription	Brain Germinal Matrix	brain
22	chr2:10340400-10341800	Enhancers	HepG2	liver
23	chr2:10340400-10344400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:10341000-10341800	Enhancers	Fetal Intestine Large	intestine
25	chr2:10341800-10342400	Weak transcription	Fetal Intestine Large	intestine
26	chr2:10341800-10354400	Weak transcription	HepG2	liver

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