Variant report

Variant	esv3312333
Chromosome Location	chr15:76826018-76827616
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	chr15:76821101..76824629-chr15:76825214..76826999,4	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 54 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577700749	chr15:76826023-76826024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191639504	chr15:76826031-76826032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73446219	chr15:76826073-76826074	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560785725	chr15:76826103-76826104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572109987	chr15:76826137-76826138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543264299	chr15:76826160-76826161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561437584	chr15:76826200-76826201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576550302	chr15:76826202-76826203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543630707	chr15:76826260-76826261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565510025	chr15:76826419-76826420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532244447	chr15:76826484-76826485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529456543	chr15:76826488-76826489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547520699	chr15:76826496-76826497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559352988	chr15:76826510-76826511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183469402	chr15:76826527-76826528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548438752	chr15:76826532-76826533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569829887	chr15:76826540-76826541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553940431	chr15:76826551-76826552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs118159268	chr15:76826557-76826558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552077320	chr15:76826565-76826566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188228842	chr15:76826594-76826595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538700514	chr15:76826608-76826609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553857501	chr15:76826650-76826651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141975260	chr15:76826657-76826658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536269929	chr15:76826695-76826696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150695871	chr15:76826713-76826714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576643683	chr15:76826753-76826754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16968349	chr15:76826762-76826763	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12443393	chr15:76826791-76826792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577524557	chr15:76826829-76826830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541096134	chr15:76826838-76826839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559513742	chr15:76826871-76826872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191939149	chr15:76826877-76826878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114723228	chr15:76826896-76826897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374607224	chr15:76827007-76827008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563337099	chr15:76827016-76827017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532008450	chr15:76827021-76827022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139445349	chr15:76827086-76827087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552055883	chr15:76827127-76827128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs284882	chr15:76827208-76827209	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528285505	chr15:76827273-76827274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547456165	chr15:76827332-76827333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149672677	chr15:76827428-76827429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80046116	chr15:76827436-76827437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554655019	chr15:76827467-76827468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570037937	chr15:76827496-76827497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537308395	chr15:76827501-76827502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565756695	chr15:76827526-76827527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569777659	chr15:76827537-76827538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147792114	chr15:76827591-76827592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76805600-76845800	Weak transcription	Primary T cells from cord blood	blood
2	chr15:76819400-76828400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr15:76825000-76826800	Enhancers	Fetal Intestine Small	intestine
4	chr15:76825000-76826800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr15:76825000-76826800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr15:76825200-76826800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr15:76825200-76826800	Enhancers	Stomach Mucosa	stomach
8	chr15:76825200-76826800	Enhancers	A549	lung
9	chr15:76825200-76826800	Enhancers	HepG2	liver
10	chr15:76825400-76826600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr15:76825400-76827600	Enhancers	Fetal Stomach	stomach
12	chr15:76825600-76826800	Enhancers	Fetal Intestine Large	intestine
13	chr15:76825800-76826200	Enhancers	Fetal Brain Male	brain
14	chr15:76826000-76826800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr15:76826000-76826800	Enhancers	Fetal Lung	lung
16	chr15:76826000-76826800	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr15:76826000-76826800	Enhancers	Small Intestine	intestine
18	chr15:76826400-76826800	Enhancers	Colon Smooth Muscle	Colon
19	chr15:76826400-76827000	Enhancers	NHLF	lung

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