Variant report

Variant	nsv900716
Chromosome Location	chr13:85528032-85614474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1376 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1376 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386772908	chr13:85534237-85534238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9602612	chr13:85534254-85534255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551805451	chr13:85534264-85534265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77535445	chr13:85534289-85534290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140186393	chr13:85534302-85534303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143867146	chr13:85534318-85534319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146854943	chr13:85534417-85534418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9593962	chr13:85534434-85534435	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546980310	chr13:85534473-85534474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9602613	chr13:85534477-85534478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148989136	chr13:85534478-85534479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4460967	chr13:85534486-85534487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs573496259	chr13:85534488-85534489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537230950	chr13:85534507-85534508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9593963	chr13:85534519-85534520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142916412	chr13:85534555-85534556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544855414	chr13:85534564-85534565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4460968	chr13:85534612-85534613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs191629219	chr13:85534633-85534634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs151074553	chr13:85534651-85534652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563789707	chr13:85534704-85534705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530935236	chr13:85534713-85534714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575440211	chr13:85534724-85534725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10538761	chr13:85534763-85534764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398099044	chr13:85534766-85534767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60213325	chr13:85534776-85534777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565901329	chr13:85534794-85534795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139402911	chr13:85534796-85534797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375030603	chr13:85534798-85534799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557143500	chr13:85534813-85534814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368517801	chr13:85534834-85534835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372245163	chr13:85534838-85534839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374852865	chr13:85534842-85534843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543202931	chr13:85534845-85534846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559797256	chr13:85534846-85534847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71695966	chr13:85534847-85534848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34293760	chr13:85534861-85534862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560870849	chr13:85534902-85534903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140987461	chr13:85534965-85534966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146361347	chr13:85534971-85534972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146396131	chr13:85534975-85534976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138988658	chr13:85535001-85535002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370532320	chr13:85535015-85535016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs57859460	chr13:85535024-85535025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532904848	chr13:85535026-85535027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551122622	chr13:85535029-85535030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569730809	chr13:85535032-85535033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141452168	chr13:85535038-85535039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555514491	chr13:85535040-85535041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567424693	chr13:85535045-85535046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85534200-85536200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:85536200-85536600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:85536400-85536800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:85536600-85537000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr13:85547000-85547200	Enhancers	Gastric	stomach
6	chr13:85547800-85548400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:85547800-85548400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:85547800-85548600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr13:85547800-85548600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:85547800-85548600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:85547800-85549400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:85548000-85548400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:85548000-85548400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr13:85548000-85548400	Enhancers	Fetal Kidney	kidney
15	chr13:85548000-85548600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr13:85548000-85548600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr13:85548200-85548600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:85548400-85552400	Weak transcription	Fetal Kidney	kidney
19	chr13:85548600-85549000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr13:85548600-85550000	Enhancers	Primary B cells from cord blood	blood
21	chr13:85549000-85549200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr13:85549200-85552600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:85549400-85552600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr13:85552400-85553000	Enhancers	Fetal Kidney	kidney
25	chr13:85552600-85553200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr13:85552600-85555200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr13:85553200-85554200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr13:85554200-85555000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr13:85567600-85568000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:85568000-85568400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:85568400-85569200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr13:85568600-85568800	Enhancers	A549	lung
33	chr13:85568600-85569400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr13:85568600-85569400	Enhancers	Stomach Mucosa	stomach
35	chr13:85568800-85569200	Active TSS	A549	lung
36	chr13:85569000-85569400	Enhancers	HepG2	liver
37	chr13:85569200-85569400	Flanking Active TSS	A549	lung
38	chr13:85587400-85587600	ZNF genes & repeats	Brain Hippocampus Middle	brain
39	chr13:85591800-85592200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr13:85592400-85593400	Enhancers	Brain Hippocampus Middle	brain
41	chr13:85592600-85593000	Enhancers	Brain Anterior Caudate	brain
42	chr13:85592600-85594600	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr13:85592800-85593000	Enhancers	Brain Substantia Nigra	brain
44	chr13:85593000-85593600	Weak transcription	Brain Substantia Nigra	brain
45	chr13:85593200-85594400	Enhancers	Brain Cingulate Gyrus	brain
46	chr13:85593400-85593800	Active TSS	Brain Hippocampus Middle	brain
47	chr13:85593600-85594400	Enhancers	Brain Substantia Nigra	brain
48	chr13:85593800-85594000	Enhancers	Brain Hippocampus Middle	brain
49	chr13:85598600-85598800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr13:85598800-85609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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