Variant report

Variant	nsv562557
Chromosome Location	chr13:84695884-84714655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 722 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:722 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9531553	chr13:84695884-84695885	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558312199	chr13:84695950-84695951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189010424	chr13:84695960-84695961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573501885	chr13:84695975-84695976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540602335	chr13:84695981-84695982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146689437	chr13:84696063-84696064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76087318	chr13:84696082-84696083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543243142	chr13:84696124-84696125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs66460106	chr13:84696125-84696126	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114886272	chr13:84696157-84696158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139146140	chr13:84696269-84696270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182009317	chr13:84696275-84696276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547342561	chr13:84696278-84696279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529421875	chr13:84696290-84696291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143160078	chr13:84696373-84696374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559543046	chr13:84696380-84696381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529792215	chr13:84696418-84696419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187566941	chr13:84696456-84696457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4381473	chr13:84696623-84696624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs538395944	chr13:84696657-84696658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558506867	chr13:84696714-84696715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565503215	chr13:84696719-84696720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534631898	chr13:84696724-84696725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190254570	chr13:84696732-84696733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180935282	chr13:84696752-84696753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574393911	chr13:84696792-84696793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543232943	chr13:84696822-84696823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549716336	chr13:84696857-84696858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150846470	chr13:84696903-84696904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576582230	chr13:84696935-84696936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4405440	chr13:84696939-84696940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs565395393	chr13:84696965-84696966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4539486	chr13:84697047-84697048	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs200575570	chr13:84697150-84697151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373378741	chr13:84697156-84697157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79245015	chr13:84697157-84697158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143954400	chr13:84697158-84697159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199528033	chr13:84697159-84697160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200816748	chr13:84697161-84697162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71749105	chr13:84697165-84697166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74983655	chr13:84697176-84697177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529979692	chr13:84697180-84697181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7490409	chr13:84697196-84697197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28574810	chr13:84697208-84697209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185762569	chr13:84697210-84697211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569545209	chr13:84697212-84697213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190289699	chr13:84697218-84697219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371597442	chr13:84697219-84697220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181153549	chr13:84697222-84697223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74407002	chr13:84697251-84697252	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	21098271	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-syndromic sensorineural hearing loss	15273396	CNVD
Epilepsy	20502679	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:84693600-84700600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr13:84695400-84696000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:84695400-84696000	Enhancers	NHEK	skin
4	chr13:84695400-84696200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:84695400-84696200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:84695400-84696200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:84695400-84696600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr13:84695400-84696600	Enhancers	Dnd41	blood
9	chr13:84695600-84696000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:84695600-84696000	Enhancers	Brain Germinal Matrix	brain
11	chr13:84695600-84696000	Enhancers	HMEC	breast
12	chr13:84695600-84696200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:84695800-84696200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:84696000-84700800	Weak transcription	NHEK	skin
15	chr13:84696200-84700600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:84696200-84700800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr13:84700600-84701400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr13:84700600-84701400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:84700600-84701800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:84700600-84702000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr13:84700800-84701200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:84700800-84701400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:84700800-84701600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr13:84700800-84701600	Enhancers	Esophagus	oesophagus
25	chr13:84700800-84701600	Enhancers	NHEK	skin
26	chr13:84700800-84701800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr13:84701000-84701800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr13:84701200-84701600	Enhancers	Fetal Heart	heart
29	chr13:84701600-84705200	Weak transcription	NHEK	skin
30	chr13:84702800-84705600	Enhancers	Hela-S3	cervix
31	chr13:84704000-84705600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:84704800-84705600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:84705000-84705400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:84705400-84705600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr13:84705600-84710200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr13:84705600-84711000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:84705600-84713000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:84709200-84711000	Enhancers	Dnd41	blood
39	chr13:84709400-84711000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr13:84709800-84710800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr13:84709800-84711200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr13:84709800-84711600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr13:84710000-84710200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:84710000-84711000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr13:84710000-84711000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr13:84710000-84711200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr13:84710000-84711200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr13:84710200-84710400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr13:84710200-84710400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:84710200-84710800	Enhancers	Primary hematopoietic stem cells	blood

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