Variant report

Variant	esv3368231
Chromosome Location	chr13:54269000-54286267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 590 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150828838	chr13:54269003-54269004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139829204	chr13:54269010-54269011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9536516	chr13:54269059-54269060	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs548004391	chr13:54269065-54269066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566718605	chr13:54269076-54269077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189931239	chr13:54269084-54269085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549138890	chr13:54269091-54269092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568339308	chr13:54269121-54269122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180723330	chr13:54269166-54269167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144100429	chr13:54269177-54269178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536732593	chr13:54269189-54269190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186591045	chr13:54269199-54269200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539510523	chr13:54269202-54269203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553046840	chr13:54269205-54269206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147325617	chr13:54269238-54269239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2806725	chr13:54269256-54269257	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs114718316	chr13:54269265-54269266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575857381	chr13:54269311-54269312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544510178	chr13:54269314-54269315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140964449	chr13:54269328-54269329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577832213	chr13:54269471-54269472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149821657	chr13:54269472-54269473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560614490	chr13:54269473-54269474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529413228	chr13:54269527-54269528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549348122	chr13:54269559-54269560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562747918	chr13:54269616-54269617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs530777943	chr13:54269652-54269653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111279702	chr13:54269663-54269664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576624746	chr13:54269669-54269670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539388993	chr13:54269684-54269685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561309959	chr13:54269815-54269816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552807867	chr13:54269897-54269898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570623948	chr13:54269918-54269919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1889996	chr13:54269950-54269951	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs190980649	chr13:54269971-54269972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376031258	chr13:54269986-54269987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144963478	chr13:54269995-54269996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183837956	chr13:54270003-54270004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148643135	chr13:54270066-54270067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574919178	chr13:54270096-54270097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538115528	chr13:54270129-54270130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547313107	chr13:54270158-54270159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199765571	chr13:54270263-54270264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558013723	chr13:54270280-54270281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577947392	chr13:54270445-54270446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540819018	chr13:54270462-54270463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs9596841	chr13:54270467-54270468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs554779180	chr13:54270499-54270500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111757015	chr13:54270519-54270520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111278291	chr13:54270527-54270528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Urothelial carcinoma	21177765	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:54265800-54269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:54266000-54269000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:54266000-54269000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr13:54266000-54269200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr13:54266000-54269200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:54266000-54287200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:54268400-54269400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:54268400-54269800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr13:54268800-54269400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr13:54268800-54269600	Enhancers	H9 Cell Line	embryonic stem cell
11	chr13:54268800-54269600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr13:54268800-54270000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:54269000-54269400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr13:54269000-54269600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:54269000-54269600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:54269000-54269600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr13:54269000-54269600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr13:54269200-54269600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr13:54269200-54269600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr13:54269200-54269600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr13:54269400-54270600	Enhancers	Fetal Lung	lung

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