Variant report

Variant	esv1799266
Chromosome Location	chr2:182853855-182857477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:182852741..182855289-chr2:182863104..182865344,4	MCF-7	breast:
2	chr2:182843541..182845262-chr2:182852345..182855215,2	K562	blood:
3	chr2:182856985..182859810-chr2:182861410..182863046,2	MCF-7	breast:
4	chr2:182852107..182855000-chr2:182869613..182871502,2	K562	blood:
5	chr2:182851614..182854352-chr2:182854697..182857369,2	MCF-7	breast:
6	chr2:182851614..182854352-chr2:182854697..182857369,2	MCF-7	breast:

Extended variants
information (count: 132 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16867517	chr2:182853855-182853856	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144973164	chr2:182853882-182853883	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs183982780	chr2:182853885-182853886	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs138890664	chr2:182853886-182853887	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs113768521	chr2:182853926-182853927	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs528522942	chr2:182853969-182853970	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs548488295	chr2:182853974-182853975	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs367632685	chr2:182853977-182853978	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs558577454	chr2:182853995-182853996	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs142012608	chr2:182854030-182854031	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs563511574	chr2:182854083-182854084	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs74379269	chr2:182854096-182854097	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs187171274	chr2:182854098-182854099	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs371236870	chr2:182854152-182854153	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530853671	chr2:182854184-182854185	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs191928170	chr2:182854203-182854204	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs551974729	chr2:182854263-182854264	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs199604973	chr2:182854382-182854383	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571885371	chr2:182854397-182854398	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs536732273	chr2:182854418-182854419	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs550676476	chr2:182854487-182854488	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs577942258	chr2:182854491-182854492	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs1153748	chr2:182854546-182854547	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536283596	chr2:182854604-182854605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199699192	chr2:182854624-182854625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552556566	chr2:182854653-182854654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566402681	chr2:182854683-182854684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539148765	chr2:182854686-182854687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558317883	chr2:182854743-182854744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575426504	chr2:182854769-182854770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543549587	chr2:182854791-182854792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185308807	chr2:182854824-182854825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190275458	chr2:182854833-182854834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200337186	chr2:182854874-182854875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552679911	chr2:182854875-182854876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71008204	chr2:182854876-182854877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182450153	chr2:182854934-182854935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559805674	chr2:182854936-182854937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1153747	chr2:182854958-182854959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545750492	chr2:182854976-182854977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56151684	chr2:182855014-182855015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs554967105	chr2:182855042-182855043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367775478	chr2:182855043-182855044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55860045	chr2:182855052-182855053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531179442	chr2:182855054-182855055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376481291	chr2:182855062-182855063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149641988	chr2:182855073-182855074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567311821	chr2:182855082-182855083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1153746	chr2:182855109-182855110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10186943	chr2:182855145-182855146	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182843400-182904000	Weak transcription	Thymus	Thymus
2	chr2:182845400-182879000	Weak transcription	Fetal Thymus	thymus
3	chr2:182853400-182859400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:182853800-182854000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr2:182853800-182854200	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr2:182853800-182854200	Enhancers	Psoas Muscle	Psoas
7	chr2:182853800-182854200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:182853800-182854600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:182853800-182854600	Flanking Active TSS	Fetal Heart	heart
10	chr2:182854000-182854400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr2:182854200-182856000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:182854200-182857800	Weak transcription	Psoas Muscle	Psoas
13	chr2:182854400-182855800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:182854600-182854800	Enhancers	Fetal Heart	heart
15	chr2:182854800-182856000	Weak transcription	Fetal Heart	heart
16	chr2:182855800-182856000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:182855800-182856000	Enhancers	GM12878-XiMat	blood
18	chr2:182856000-182856400	Flanking Active TSS	GM12878-XiMat	blood
19	chr2:182856000-182856600	Enhancers	Stomach Mucosa	stomach
20	chr2:182856000-182856800	Enhancers	Fetal Intestine Large	intestine
21	chr2:182856000-182857000	Enhancers	Primary B cells from cord blood	blood
22	chr2:182856000-182857000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr2:182856000-182857000	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr2:182856000-182857000	Enhancers	Fetal Intestine Small	intestine
25	chr2:182856000-182857200	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr2:182856000-182857200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr2:182856000-182858000	Enhancers	Fetal Heart	heart
28	chr2:182856200-182857000	Enhancers	Primary B cells from peripheral blood	blood
29	chr2:182856400-182856800	Enhancers	GM12878-XiMat	blood
30	chr2:182856800-182857000	Flanking Active TSS	GM12878-XiMat	blood
31	chr2:182857000-182857200	Enhancers	GM12878-XiMat	blood
32	chr2:182857200-182857400	Flanking Active TSS	GM12878-XiMat	blood
33	chr2:182857400-182857800	Enhancers	GM12878-XiMat	blood

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