Variant report

Variant	esv3323154
Chromosome Location	chr2:113855481-113859679
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113858124..113860722-chr2:113869121..113871284,2	K562	blood:
2	chr2:113859222..113863873-chr2:113865698..113870621,4	K562	blood:
3	chr2:113856768..113859655-chr2:113862329..113864158,2	K562	blood:

Variant related genes	Relation type
ENSG00000136689	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4575729	chr2:113855529-113855530	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112730504	chr2:113855530-113855531	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575032493	chr2:113855532-113855533	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78841110	chr2:113855583-113855584	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543924323	chr2:113855599-113855600	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563729775	chr2:113855608-113855609	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75169124	chr2:113855611-113855612	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs55896126	chr2:113855635-113855636	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546151279	chr2:113855645-113855646	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565049576	chr2:113855659-113855660	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183873743	chr2:113855709-113855710	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188595271	chr2:113855711-113855712	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560748267	chr2:113855719-113855720	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529781985	chr2:113855730-113855731	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1618084	chr2:113855774-113855775	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181383208	chr2:113855796-113855797	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569367740	chr2:113855802-113855803	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs540586911	chr2:113855814-113855815	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs1618889	chr2:113855863-113855864	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73955145	chr2:113855964-113855965	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs137883562	chr2:113856009-113856010	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs556903136	chr2:113856021-113856022	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs118164452	chr2:113856057-113856058	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs537594802	chr2:113856098-113856099	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs552680806	chr2:113856124-113856125	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs557512068	chr2:113856184-113856185	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563017955	chr2:113856209-113856210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545913169	chr2:113856237-113856238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559677866	chr2:113856251-113856252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572297573	chr2:113856334-113856335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185876734	chr2:113856346-113856347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541312297	chr2:113856347-113856348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367699913	chr2:113856383-113856384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560811450	chr2:113856417-113856418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112425982	chr2:113856418-113856419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61412013	chr2:113856441-113856442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190371203	chr2:113856451-113856452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58803788	chr2:113856461-113856462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182554560	chr2:113856494-113856495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111775604	chr2:113856495-113856496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549528355	chr2:113856545-113856546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563075559	chr2:113856549-113856550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs60049478	chr2:113856572-113856573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185886853	chr2:113856597-113856598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551930055	chr2:113856611-113856612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111856517	chr2:113856612-113856613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565660536	chr2:113856620-113856621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113129390	chr2:113856647-113856648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371328812	chr2:113856667-113856668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528033162	chr2:113856694-113856695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113847800-113855800	Weak transcription	Esophagus	oesophagus
2	chr2:113855000-113856000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:113855200-113856400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr2:113855400-113855600	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr2:113855400-113855800	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr2:113855400-113856000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr2:113855400-113856200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr2:113855600-113855800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:113855600-113855800	Enhancers	Duodenum Mucosa	Duodenum
10	chr2:113855600-113855800	Active TSS	GM12878-XiMat	blood
11	chr2:113855600-113856000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr2:113855600-113856000	Enhancers	Stomach Mucosa	stomach
13	chr2:113855800-113856000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:113855800-113856000	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr2:113855800-113856000	Flanking Active TSS	GM12878-XiMat	blood
16	chr2:113855800-113856200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:113855800-113856200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:113855800-113856200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr2:113855800-113856200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:113855800-113856200	Enhancers	Lung	lung
21	chr2:113855800-113856400	Enhancers	Primary B cells from peripheral blood	blood
22	chr2:113855800-113856400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr2:113855800-113856400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr2:113855800-113856400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:113855800-113856400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:113855800-113856600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr2:113855800-113857200	Enhancers	Esophagus	oesophagus
28	chr2:113856000-113856200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:113856000-113856400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr2:113856000-113856400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:113856000-113856600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:113856000-113856600	Enhancers	GM12878-XiMat	blood
33	chr2:113856000-113857000	Enhancers	Spleen	Spleen
34	chr2:113856200-113856400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:113856200-113856400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr2:113856600-113857000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:113857000-113857200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:113857000-113857200	Bivalent Enhancer	HepG2	liver
39	chr2:113857200-113861200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:113858400-113858800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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