Variant report

Variant	nsv471159
Chromosome Location	chr13:85283911-85337948
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	chr13:85330865..85331631-chr20:52873521..52874297,2	MCF-7	breast:
2	chr13:85303406..85304284-chr20:11716086..11716681,2	MCF-7	breast:

Extended variants
information (count: 540 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:540 , 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	rs554866438	chr13:85303430-85303431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146680879	chr13:85303447-85303448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374766752	chr13:85303470-85303471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540572014	chr13:85303505-85303506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565147433	chr13:85303512-85303513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538575192	chr13:85303529-85303530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192466607	chr13:85303533-85303534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140245529	chr13:85303595-85303596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145203201	chr13:85303638-85303639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550802890	chr13:85303640-85303641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575899715	chr13:85303665-85303666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72629467	chr13:85303685-85303686	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530216983	chr13:85303687-85303688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548390958	chr13:85303714-85303715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9670615	chr13:85303735-85303736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535837247	chr13:85303768-85303769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552873201	chr13:85303770-85303771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571152830	chr13:85303775-85303776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550615507	chr13:85304616-85304617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568923976	chr13:85304660-85304661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181702677	chr13:85304700-85304701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149015070	chr13:85304722-85304723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371597138	chr13:85304723-85304724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190569592	chr13:85305019-85305020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376501916	chr13:85305037-85305038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376062881	chr13:85305086-85305087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200030010	chr13:85305088-85305089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9602542	chr13:85305109-85305110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541916383	chr13:85305120-85305121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560663501	chr13:85305147-85305148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180982924	chr13:85305198-85305199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143817714	chr13:85305212-85305213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529234438	chr13:85305228-85305229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564593936	chr13:85305262-85305263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543021284	chr13:85305301-85305302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550551933	chr13:85305371-85305372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562461536	chr13:85305372-85305373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61960236	chr13:85305386-85305387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528609156	chr13:85305409-85305410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547958454	chr13:85305451-85305452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537457777	chr13:85305462-85305463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533714891	chr13:85305526-85305527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375191339	chr13:85305618-85305619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185300784	chr13:85305668-85305669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537759423	chr13:85305681-85305682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77864962	chr13:85305687-85305688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559858180	chr13:85305689-85305690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540700233	chr13:85305708-85305709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148151562	chr13:85305741-85305742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564933071	chr13:85305772-85305773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:85303400-85303800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:85304600-85304800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr13:85304600-85304800	Enhancers	Fetal Lung	lung
4	chr13:85305000-85306200	Weak transcription	Fetal Lung	lung
5	chr13:85305200-85306200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:85306200-85306400	Enhancers	Fetal Lung	lung
7	chr13:85306200-85306600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:85306200-85307000	Enhancers	Brain Germinal Matrix	brain
9	chr13:85306400-85306800	Weak transcription	Fetal Lung	lung
10	chr13:85306800-85307200	Enhancers	Fetal Lung	lung
11	chr13:85309400-85309600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:85309600-85311600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:85310800-85312800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:85311000-85312400	Enhancers	Primary hematopoietic stem cells	blood
15	chr13:85311000-85312800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:85311600-85312000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:85311600-85312000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr13:85311800-85312200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr13:85312800-85315400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:85315400-85315800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr13:85315800-85318400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr13:85318400-85318800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:85322800-85323800	Enhancers	Fetal Heart	heart
24	chr13:85323400-85324000	Enhancers	Fetal Lung	lung
25	chr13:85330600-85331400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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