Variant report

Variant	nsv900691
Chromosome Location	chr13:85206473-85294881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:85244609..85247109-chr13:85249770..85251885,2	K562	blood:
2	chr13:85244609..85247109-chr13:85249770..85251885,2	K562	blood:

Extended variants
information (count: 1817 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1817 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9565952	chr13:85206473-85206474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560310278	chr13:85206489-85206490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376470633	chr13:85206500-85206501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201391964	chr13:85206513-85206514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368990755	chr13:85206529-85206530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529072977	chr13:85206617-85206618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542773723	chr13:85206630-85206631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562554978	chr13:85206658-85206659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555317641	chr13:85206711-85206712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552984294	chr13:85206734-85206735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186468340	chr13:85206738-85206739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571567321	chr13:85206739-85206740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538997412	chr13:85206740-85206741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200782994	chr13:85206779-85206780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3127541	chr13:85206786-85206787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533690723	chr13:85206788-85206789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114236096	chr13:85206801-85206802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575652600	chr13:85206806-85206807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542882317	chr13:85206809-85206810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567080717	chr13:85206867-85206868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535636145	chr13:85206879-85206880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541116471	chr13:85206895-85206896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374391228	chr13:85206924-85206925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537901598	chr13:85206937-85206938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558141320	chr13:85206942-85206943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78895632	chr13:85206950-85206951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73532253	chr13:85206955-85206956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs9575623	chr13:85206967-85206968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573917178	chr13:85207018-85207019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149829923	chr13:85207038-85207039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562620133	chr13:85207041-85207042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373121349	chr13:85207136-85207137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116566880	chr13:85207139-85207140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs74101331	chr13:85207167-85207168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146858825	chr13:85207181-85207182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377379205	chr13:85207197-85207198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191248193	chr13:85207202-85207203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565150066	chr13:85207206-85207207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183015230	chr13:85207228-85207229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529489414	chr13:85207231-85207232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562726721	chr13:85207245-85207246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185843373	chr13:85207253-85207254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78978206	chr13:85207254-85207255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538352039	chr13:85207269-85207270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183176241	chr13:85207282-85207283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571644456	chr13:85207293-85207294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188914252	chr13:85207355-85207356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375503532	chr13:85207547-85207548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542179256	chr13:85207549-85207550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532031970	chr13:85207551-85207552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Epilepsy	20502679	CNVD
Non-small cell lung cancer	16651412	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85200200-85211400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:85210000-85210200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:85210200-85210400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:85210200-85210400	Flanking Active TSS	Spleen	Spleen
5	chr13:85210400-85219400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:85216200-85216400	Enhancers	Osteobl	bone
7	chr13:85216400-85218800	Weak transcription	Osteobl	bone
8	chr13:85218600-85220400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:85218600-85222400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:85218800-85220000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:85218800-85220200	Enhancers	Aorta	Aorta
12	chr13:85218800-85220400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr13:85218800-85220400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:85218800-85220400	Enhancers	HSMM	muscle
15	chr13:85218800-85220600	Enhancers	Osteobl	bone
16	chr13:85219000-85220400	Enhancers	Primary hematopoietic stem cells	blood
17	chr13:85219200-85220000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr13:85219200-85225200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr13:85219400-85219800	Enhancers	Rectal Smooth Muscle	rectum
20	chr13:85219400-85220000	Enhancers	NHEK	skin
21	chr13:85219400-85220200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:85219400-85220600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:85219600-85219800	Enhancers	Right Ventricle	heart
24	chr13:85219600-85220000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:85219600-85220000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr13:85219600-85220000	Enhancers	Stomach Smooth Muscle	stomach
27	chr13:85219600-85220200	Enhancers	NH-A	brain
28	chr13:85219800-85220000	Enhancers	Left Ventricle	heart
29	chr13:85219800-85220400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr13:85219800-85227600	Weak transcription	Right Ventricle	heart
31	chr13:85219800-85229800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr13:85220000-85221000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:85220000-85224000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr13:85220000-85224000	Weak transcription	NHEK	skin
35	chr13:85220000-85225400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:85220200-85223800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:85220200-85224000	Weak transcription	NH-A	brain
38	chr13:85220200-85225600	Weak transcription	Left Ventricle	heart
39	chr13:85220400-85220800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:85220400-85220800	Weak transcription	Primary hematopoietic stem cells	blood
41	chr13:85220400-85220800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:85220400-85228200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr13:85220600-85221000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:85220600-85221000	Weak transcription	Osteobl	bone
45	chr13:85220800-85221400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr13:85220800-85221400	Enhancers	Primary hematopoietic stem cells	blood
47	chr13:85220800-85221600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr13:85220800-85221600	Enhancers	Fetal Heart	heart
49	chr13:85220800-85221800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr13:85221000-85221200	Enhancers	HUES48 Cell Line	embryonic stem cell

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