Variant report

Variant	nsv977376
Chromosome Location	chr13:80435589-80438593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370631561	chr13:80435595-80435596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557282328	chr13:80435609-80435610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181872362	chr13:80435654-80435655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546135734	chr13:80435701-80435702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147505758	chr13:80435762-80435763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9530981	chr13:80435779-80435780	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74099556	chr13:80435783-80435784	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541902105	chr13:80435798-80435799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564077582	chr13:80435801-80435802	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562186077	chr13:80435802-80435803	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530922754	chr13:80435832-80435833	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543561410	chr13:80435879-80435880	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563338606	chr13:80435912-80435913	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs186516903	chr13:80435945-80435946	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs377122515	chr13:80435987-80435988	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs140378348	chr13:80436019-80436020	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs565663384	chr13:80436054-80436055	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs575960330	chr13:80436067-80436068	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs547898263	chr13:80436072-80436073	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs145535441	chr13:80436077-80436078	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs35647097	chr13:80436079-80436080	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs536752192	chr13:80436151-80436152	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs79219982	chr13:80436169-80436170	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs191465599	chr13:80436172-80436173	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs137940148	chr13:80436173-80436174	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553282714	chr13:80436174-80436175	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs4885677	chr13:80436201-80436202	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542174648	chr13:80436204-80436205	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs555484540	chr13:80436242-80436243	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182384409	chr13:80436252-80436253	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs185172586	chr13:80436272-80436273	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs189569930	chr13:80436283-80436284	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs563486293	chr13:80436296-80436297	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs76400298	chr13:80436304-80436305	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs529091367	chr13:80436434-80436435	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs371352871	chr13:80436527-80436528	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs77965615	chr13:80436554-80436555	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs546097103	chr13:80436571-80436572	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs148208476	chr13:80436616-80436617	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs528409843	chr13:80436651-80436652	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs548123406	chr13:80436674-80436675	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs561576363	chr13:80436732-80436733	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs530619413	chr13:80436759-80436760	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs550438797	chr13:80436777-80436778	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs183395184	chr13:80436794-80436795	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs539619454	chr13:80436802-80436803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374839840	chr13:80436857-80436858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6563141	chr13:80436892-80436893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566784907	chr13:80436971-80436972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535776047	chr13:80436988-80436989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
abnormal development	18461090	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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Schizophrenia	19197363	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80425400-80443200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:80434000-80436200	Enhancers	Stomach Mucosa	stomach
3	chr13:80434000-80437000	Enhancers	Fetal Intestine Small	intestine
4	chr13:80434200-80437000	Enhancers	Fetal Intestine Large	intestine
5	chr13:80434400-80443400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:80435000-80436000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr13:80435200-80435800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr13:80435200-80436000	Weak transcription	Gastric	stomach
9	chr13:80435400-80436400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:80435400-80443400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr13:80435800-80436400	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr13:80435800-80436800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr13:80436000-80436600	Enhancers	Duodenum Mucosa	Duodenum
14	chr13:80436000-80436800	Enhancers	Gastric	stomach
15	chr13:80436200-80436800	Enhancers	Small Intestine	intestine
16	chr13:80436200-80443400	Weak transcription	Stomach Mucosa	stomach
17	chr13:80436400-80436800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr13:80436400-80437200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr13:80436800-80438800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:80437000-80438400	Weak transcription	Fetal Intestine Large	intestine
21	chr13:80437000-80438800	Weak transcription	Fetal Intestine Small	intestine
22	chr13:80438400-80438800	Enhancers	Thymus	Thymus
23	chr13:80438400-80439200	Enhancers	Fetal Intestine Large	intestine
24	chr13:80438400-80439800	Enhancers	Fetal Thymus	thymus
25	chr13:80438400-80440200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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