Variant report

Variant	nsv1043283
Chromosome Location	chr13:85883883-85910850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 451 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558738684	chr13:85883938-85883939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570800230	chr13:85883981-85883982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4911063	chr13:85884000-85884001	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556621953	chr13:85884011-85884012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35128400	chr13:85884032-85884033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10537380	chr13:85884093-85884094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374581403	chr13:85884096-85884097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74799736	chr13:85884110-85884111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4911064	chr13:85884117-85884118	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553994864	chr13:85884121-85884122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572453385	chr13:85884136-85884137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191040755	chr13:85884139-85884140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545994238	chr13:85884166-85884167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564333811	chr13:85884308-85884309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1984044	chr13:85884371-85884372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9531754	chr13:85884407-85884408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543688911	chr13:85884481-85884482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78947300	chr13:85884502-85884503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183306003	chr13:85884525-85884526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529674759	chr13:85884539-85884540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557019955	chr13:85884557-85884558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566448114	chr13:85884565-85884566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566979415	chr13:85884634-85884635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs202053792	chr13:85884635-85884636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527370800	chr13:85884646-85884647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200730336	chr13:85884652-85884653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs137863028	chr13:85884657-85884658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542583569	chr13:85884658-85884659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202096495	chr13:85884661-85884662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs66597786	chr13:85884663-85884664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200215052	chr13:85884664-85884665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72637013	chr13:85884673-85884674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570637674	chr13:85884724-85884725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139081183	chr13:85884763-85884764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75765806	chr13:85884778-85884779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568315228	chr13:85884810-85884811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114111052	chr13:85884816-85884817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151321048	chr13:85884834-85884835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572490969	chr13:85884869-85884870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74691678	chr13:85884900-85884901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557960185	chr13:85884901-85884902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150040331	chr13:85884923-85884924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543576994	chr13:85884924-85884925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192706507	chr13:85885005-85885006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562476237	chr13:85885009-85885010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28627290	chr13:85885028-85885029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs560089803	chr13:85885103-85885104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145304778	chr13:85885141-85885142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552284640	chr13:85885147-85885148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547804484	chr13:85885148-85885149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Non-small cell lung cancer	16651412	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85883800-85887600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:85884200-85887600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:85885800-85887400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:85886200-85886400	Enhancers	Brain Substantia Nigra	brain
5	chr13:85887400-85887800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:85887400-85888200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr13:85887600-85888400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:85887600-85888400	Enhancers	HUVEC	blood vessel
9	chr13:85887600-85888600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr13:85887600-85888800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:85887600-85889000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:85887800-85888400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:85887800-85888400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:85887800-85888400	Enhancers	NHEK	skin
15	chr13:85888000-85888400	Enhancers	Brain Cingulate Gyrus	brain
16	chr13:85888000-85888400	Enhancers	Brain Substantia Nigra	brain
17	chr13:85888000-85888600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr13:85888000-85889200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:85888200-85888600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:85888200-85889200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:85888200-85889200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:85888400-85888800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr13:85888400-85890800	Weak transcription	HUVEC	blood vessel
24	chr13:85888600-85889000	Enhancers	Brain Substantia Nigra	brain
25	chr13:85888800-85889200	Enhancers	Brain Cingulate Gyrus	brain
26	chr13:85888800-85890600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:85889200-85890200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:85890400-85890600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr13:85890600-85891000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:85890600-85891000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:85890600-85891000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:85890800-85891200	Active TSS	Fetal Muscle Leg	muscle
33	chr13:85890800-85891200	Enhancers	HUVEC	blood vessel
34	chr13:85891000-85895400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr13:85895400-85895800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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