Variant report

Variant	nsv983729
Chromosome Location	chr13:85379122-85428478
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	chr13:85418682..85419230-chr13:86438823..86439343,2	MCF-7	breast:

Extended variants
information (count: 448 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:448 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115779455	chr13:85384241-85384242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563323024	chr13:85384316-85384317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573547706	chr13:85384325-85384326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540672072	chr13:85384333-85384334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530420560	chr13:85384346-85384347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145592472	chr13:85384398-85384399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544778856	chr13:85384423-85384424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147714400	chr13:85384445-85384446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556720670	chr13:85384456-85384457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530768847	chr13:85384487-85384488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142484896	chr13:85384506-85384507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528126645	chr13:85384573-85384574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561286218	chr13:85384648-85384649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192540680	chr13:85384699-85384700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10781935	chr13:85384799-85384800	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs566128982	chr13:85384800-85384801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs80107442	chr13:85384810-85384811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571737046	chr13:85384821-85384822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532674298	chr13:85384838-85384839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111528682	chr13:85384843-85384844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9670314	chr13:85384844-85384845	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs80213179	chr13:85384846-85384847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184724691	chr13:85384865-85384866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112831313	chr13:85384873-85384874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548597855	chr13:85384894-85384895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114313563	chr13:85384987-85384988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534278146	chr13:85384992-85384993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150217560	chr13:85385016-85385017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74442676	chr13:85385050-85385051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12017137	chr13:85385072-85385073	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs558167221	chr13:85385074-85385075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79989963	chr13:85385084-85385085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553653695	chr13:85385087-85385088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9743334	chr13:85385093-85385094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs542813790	chr13:85385099-85385100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560986485	chr13:85385116-85385117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573191847	chr13:85385117-85385118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540602570	chr13:85385130-85385131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78645480	chr13:85385142-85385143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537451978	chr13:85385144-85385145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148921078	chr13:85385161-85385162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532582582	chr13:85385166-85385167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371395818	chr13:85385177-85385178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550785190	chr13:85385207-85385208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563045670	chr13:85385214-85385215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555093914	chr13:85385215-85385216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143609659	chr13:85385222-85385223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548772879	chr13:85385233-85385234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186869478	chr13:85385251-85385252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138155828	chr13:85385253-85385254	Enhancers	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
Osteosarcoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85384200-85385200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr13:85384600-85385000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:85384600-85385200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:85384600-85385200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:85384600-85385400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr13:85384600-85385400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr13:85385400-85386200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr13:85386200-85386400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr13:85391000-85391400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr13:85391000-85391400	Enhancers	Fetal Heart	heart
11	chr13:85391000-85391600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr13:85391000-85391600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr13:85391400-85395400	Weak transcription	Fetal Heart	heart
14	chr13:85395400-85395800	Enhancers	Fetal Heart	heart
15	chr13:85404400-85404600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:85404600-85405800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:85405800-85406000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr13:85405800-85406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:85406000-85406600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr13:85406600-85406800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr13:85406600-85406800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr13:85419600-85420800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:85427800-85432600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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