Variant report

Variant	esv3584661
Chromosome Location	chr13:92902858-92912423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 332 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180782803	chr13:92902863-92902864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149395346	chr13:92902867-92902868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541885779	chr13:92902880-92902881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9301789	chr13:92902903-92902904	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs114118355	chr13:92902915-92902916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547776911	chr13:92902931-92902932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368038487	chr13:92902965-92902966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9523555	chr13:92902969-92902970	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1411746	chr13:92902985-92902986	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs144798842	chr13:92903007-92903008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570231337	chr13:92903021-92903022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117356238	chr13:92903048-92903049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185147732	chr13:92903060-92903061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568159203	chr13:92903069-92903070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148626169	chr13:92903095-92903096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553778120	chr13:92903125-92903126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377624917	chr13:92903128-92903129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77638694	chr13:92903149-92903150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141207548	chr13:92903170-92903171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1926617	chr13:92903185-92903186	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs550356213	chr13:92903194-92903195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115836258	chr13:92903266-92903267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75011160	chr13:92903272-92903273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577416499	chr13:92903308-92903309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377427778	chr13:92903312-92903313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555535891	chr13:92903318-92903319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572540630	chr13:92903336-92903337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541062342	chr13:92903337-92903338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1926616	chr13:92903339-92903340	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs533190686	chr13:92903360-92903361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544102966	chr13:92903426-92903427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563976462	chr13:92903429-92903430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56183342	chr13:92903450-92903451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529470043	chr13:92903475-92903476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555851376	chr13:92903487-92903488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150755373	chr13:92903528-92903529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7338926	chr13:92903538-92903539	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs190052079	chr13:92903588-92903589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79239577	chr13:92903625-92903626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs8002066	chr13:92903671-92903672	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115979617	chr13:92903680-92903681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555991369	chr13:92903683-92903684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374391793	chr13:92903720-92903721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569621531	chr13:92903733-92903734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535258686	chr13:92903796-92903797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181294632	chr13:92903862-92903863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373112549	chr13:92903926-92903927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185859574	chr13:92903938-92903939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139088536	chr13:92903944-92903945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192050868	chr13:92903987-92903988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Melanoma	20877625	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92902600-92904400	Enhancers	Fetal Lung	lung
2	chr13:92902800-92907000	Weak transcription	Fetal Stomach	stomach
3	chr13:92904000-92904400	Enhancers	Fetal Kidney	kidney
4	chr13:92904400-92906800	Weak transcription	Fetal Lung	lung
5	chr13:92906800-92907800	Enhancers	Fetal Lung	lung
6	chr13:92907000-92907600	Enhancers	Fetal Stomach	stomach
7	chr13:92907800-92911800	Weak transcription	Fetal Lung	lung
8	chr13:92908000-92909600	Enhancers	Adipose Nuclei	Adipose
9	chr13:92911800-92912000	Enhancers	Fetal Lung	lung
10	chr13:92912000-92912400	Weak transcription	Fetal Lung	lung
11	chr13:92912000-92912400	Enhancers	Ovary	ovary
12	chr13:92912000-92912800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:92912400-92913200	Enhancers	Fetal Lung	lung

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