Variant report

Variant	nsv818983
Chromosome Location	chr13:85604068-85616541
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 523 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:523 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2454957	chr13:85604068-85604069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530933848	chr13:85604074-85604075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143236471	chr13:85604075-85604076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181983033	chr13:85604099-85604100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546908611	chr13:85604103-85604104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571896672	chr13:85604129-85604130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565853011	chr13:85604133-85604134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534780405	chr13:85604134-85604135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539006330	chr13:85604136-85604137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373746266	chr13:85604137-85604138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553375704	chr13:85604149-85604150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553934729	chr13:85604158-85604159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9565999	chr13:85604332-85604333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs184590842	chr13:85604349-85604350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs61962789	chr13:85604370-85604371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555013527	chr13:85604392-85604393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386772920	chr13:85604405-85604406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541204920	chr13:85604407-85604408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575823716	chr13:85604428-85604429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543115407	chr13:85604439-85604440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577865163	chr13:85604453-85604454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544929833	chr13:85604485-85604486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9547045	chr13:85604495-85604496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs148273802	chr13:85604516-85604517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543066207	chr13:85604560-85604561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368721070	chr13:85604562-85604563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141311078	chr13:85604567-85604568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528634040	chr13:85604571-85604572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61962790	chr13:85604588-85604589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147410577	chr13:85604612-85604613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78809366	chr13:85604626-85604627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75484241	chr13:85604662-85604663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10400644	chr13:85604691-85604692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532748943	chr13:85604696-85604697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550956917	chr13:85604705-85604706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9602630	chr13:85604717-85604718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs536624303	chr13:85604720-85604721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548602545	chr13:85604746-85604747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567012218	chr13:85604783-85604784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2485240	chr13:85604796-85604797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188089738	chr13:85604810-85604811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577724817	chr13:85604892-85604893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538843399	chr13:85604972-85604973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550318204	chr13:85604986-85604987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35438606	chr13:85604994-85604995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7335217	chr13:85605017-85605018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575638760	chr13:85605028-85605029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543031311	chr13:85605074-85605075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529763200	chr13:85605077-85605078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181317912	chr13:85605080-85605081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Schizophrenia	21346763	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85598800-85609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:85606000-85606400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr13:85608400-85608600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:85608600-85615600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:85615600-85616200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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