Variant report

Variant	nsv1035858
Chromosome Location	chr13:64210729-64239551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 328 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377249986	chr13:64210732-64210733	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs141990357	chr13:64210784-64210785	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs183057201	chr13:64210824-64210825	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs527317837	chr13:64210838-64210839	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs551876980	chr13:64210870-64210871	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs71439998	chr13:64210913-64210914	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs564254734	chr13:64210955-64210956	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs531261305	chr13:64210982-64210983	Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528639077	chr13:64211025-64211026	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551205815	chr13:64211098-64211099	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs187391281	chr13:64211166-64211167	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs536966866	chr13:64211225-64211226	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs145631694	chr13:64211233-64211234	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs138775790	chr13:64211236-64211237	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs567152812	chr13:64211279-64211280	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs367582032	chr13:64211304-64211305	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs558674602	chr13:64211327-64211328	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs17088643	chr13:64211335-64211336	Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs77316341	chr13:64211358-64211359	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs563606774	chr13:64211359-64211360	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs537920559	chr13:64211361-64211362	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs568461349	chr13:64211367-64211368	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs140629112	chr13:64211380-64211381	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs370805407	chr13:64211381-64211382	Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs2810856	chr13:64211415-64211416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541610677	chr13:64211417-64211418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192559881	chr13:64211422-64211423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572248337	chr13:64211443-64211444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184785777	chr13:64211516-64211517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149314325	chr13:64211556-64211557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74087135	chr13:64211579-64211580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574303557	chr13:64211597-64211598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188681388	chr13:64211605-64211606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144551658	chr13:64211613-64211614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548788969	chr13:64211621-64211622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560815758	chr13:64211636-64211637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs192779687	chr13:64211675-64211676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112101150	chr13:64211708-64211709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148442730	chr13:64211734-64211735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34914496	chr13:64211743-64211744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540006814	chr13:64211833-64211834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537829855	chr13:64211877-64211878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374173055	chr13:64211890-64211891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141732449	chr13:64211918-64211919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371309828	chr13:64212093-64212094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552950113	chr13:64212190-64212191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376280033	chr13:64212223-64212224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs76736029	chr13:64212230-64212231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs78193377	chr13:64212265-64212266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535314126	chr13:64212268-64212269	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	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	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64210000-64211000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr13:64210200-64211200	Active TSS	GM12878-XiMat	blood
3	chr13:64210400-64210800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:64210400-64210800	Active TSS	Fetal Kidney	kidney
5	chr13:64210400-64211000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:64210400-64211000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:64210400-64211000	Active TSS	Duodenum Mucosa	Duodenum
8	chr13:64210400-64211000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr13:64210400-64211000	Active TSS	A549	lung
10	chr13:64210400-64211000	Active TSS	Osteobl	bone
11	chr13:64210400-64211200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:64210400-64211200	Active TSS	Stomach Smooth Muscle	stomach
13	chr13:64210400-64211400	Flanking Active TSS	Dnd41	blood
14	chr13:64210600-64210800	Flanking Active TSS	Liver	Liver
15	chr13:64210600-64211000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:64210600-64211000	Active TSS	Primary hematopoietic stem cells	blood
17	chr13:64210600-64211000	Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr13:64210600-64211000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:64210600-64211000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:64210600-64211000	Active TSS	Adipose Nuclei	Adipose
21	chr13:64210600-64211000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr13:64210600-64211000	Active TSS	Stomach Mucosa	stomach
23	chr13:64210600-64211000	Active TSS	Hela-S3	cervix
24	chr13:64210600-64211000	Active TSS	HMEC	breast
25	chr13:64210600-64211000	Active TSS	HUVEC	blood vessel
26	chr13:64210600-64211000	Active TSS	NHDF-Ad	bronchial
27	chr13:64210800-64211000	Active TSS	Liver	Liver
28	chr13:64210800-64211400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:64211000-64211200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr13:64211000-64211400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:64211200-64211800	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr13:64211400-64211800	Enhancers	GM12878-XiMat	blood
33	chr13:64211400-64212400	Enhancers	Dnd41	blood
34	chr13:64211600-64212000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr13:64217400-64218400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:64223200-64224400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:64223600-64224200	Enhancers	Brain Substantia Nigra	brain
38	chr13:64223800-64224200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr13:64224000-64224400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr13:64224400-64227200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:64227200-64227400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:64233000-64233600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:64235400-64235600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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