Variant report

Variant	nsv976138
Chromosome Location	chr13:85756952-85774725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 181 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562464722	chr13:85759857-85759858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371835950	chr13:85759867-85759868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577934826	chr13:85759870-85759871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545414210	chr13:85759891-85759892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180746493	chr13:85759933-85759934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576005046	chr13:85759940-85759941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543361826	chr13:85759971-85759972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561766457	chr13:85760023-85760024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528966355	chr13:85760028-85760029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185797969	chr13:85760084-85760085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529717459	chr13:85760094-85760095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374977553	chr13:85760113-85760114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548255868	chr13:85760159-85760160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566486509	chr13:85760161-85760162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190168478	chr13:85760192-85760193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533139294	chr13:85760235-85760236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183157672	chr13:85760236-85760237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186930477	chr13:85760252-85760253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530820296	chr13:85760276-85760277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549313250	chr13:85760304-85760305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552930631	chr13:85760330-85760331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567952815	chr13:85760353-85760354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10161726	chr13:85760377-85760378	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547195850	chr13:85760383-85760384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372676817	chr13:85760392-85760393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375841414	chr13:85760416-85760417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192127848	chr13:85760434-85760435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10162121	chr13:85760451-85760452	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539085540	chr13:85760460-85760461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571538917	chr13:85760468-85760469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10162122	chr13:85760485-85760486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557376804	chr13:85760500-85760501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs201832565	chr13:85760508-85760509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs386772941	chr13:85760511-85760512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs66997568	chr13:85760513-85760514	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs902285	chr13:85760519-85760520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573662375	chr13:85760610-85760611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541155349	chr13:85760613-85760614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557172436	chr13:85760627-85760628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144044914	chr13:85760634-85760635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533019900	chr13:85760659-85760660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545148026	chr13:85760660-85760661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563439648	chr13:85760677-85760678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184065274	chr13:85760695-85760696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548982908	chr13:85760750-85760751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188634792	chr13:85760875-85760876	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs146453199	chr13:85760906-85760907	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs546738465	chr13:85760942-85760943	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs554582703	chr13:85760981-85760982	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs191361910	chr13:85760993-85760994	Flanking Active TSS	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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	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
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
abnormal development	18461090	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
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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85759800-85760800	Enhancers	Fetal Lung	lung
2	chr13:85760800-85761000	Flanking Active TSS	Fetal Lung	lung
3	chr13:85761000-85761200	Active TSS	Fetal Lung	lung
4	chr13:85761200-85761400	Flanking Active TSS	Fetal Lung	lung
5	chr13:85769000-85769400	Enhancers	Stomach Mucosa	stomach
6	chr13:85769400-85771000	Weak transcription	Stomach Mucosa	stomach
7	chr13:85771000-85771200	Active TSS	Stomach Mucosa	stomach
8	chr13:85771200-85771600	Weak transcription	Stomach Mucosa	stomach
9	chr13:85771400-85771800	Enhancers	HUVEC	blood vessel
10	chr13:85771600-85772200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:85771600-85772200	Enhancers	Stomach Mucosa	stomach

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