Variant report

Variant	nsv900311
Chromosome Location	chr13:64037197-64133015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1163 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1163 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186291479	chr13:64037836-64037837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541218004	chr13:64037842-64037843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559906279	chr13:64037876-64037877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139889817	chr13:64037897-64037898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189937706	chr13:64037928-64037929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372372535	chr13:64037967-64037968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1890902	chr13:64037975-64037976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530969289	chr13:64038017-64038018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549454396	chr13:64038022-64038023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144774778	chr13:64038116-64038117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535130735	chr13:64038213-64038214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114065550	chr13:64038242-64038243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571132954	chr13:64038244-64038245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538521080	chr13:64038327-64038328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77070534	chr13:64038349-64038350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182151386	chr13:64038361-64038362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574882692	chr13:64038362-64038363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs207473891	chr13:64038364-64038365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535889184	chr13:64038367-64038368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572218494	chr13:64038418-64038419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541081427	chr13:64038483-64038484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76055707	chr13:64038503-64038504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572809066	chr13:64038569-64038570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574767515	chr13:64038587-64038588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61953645	chr13:64038608-64038609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78675983	chr13:64038632-64038633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117811535	chr13:64038636-64038637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187817052	chr13:64038646-64038647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1340496	chr13:64038695-64038696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533828974	chr13:64038706-64038707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532411976	chr13:64038713-64038714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147928952	chr13:64038715-64038716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549069466	chr13:64038728-64038729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191303252	chr13:64038741-64038742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528552405	chr13:64038753-64038754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1483885	chr13:64038754-64038755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs2792087	chr13:64038772-64038773	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs78825106	chr13:64038777-64038778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550456104	chr13:64038816-64038817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568763888	chr13:64038828-64038829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528240934	chr13:64038848-64038849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536555213	chr13:64038885-64038886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183273359	chr13:64038909-64038910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1340495	chr13:64038931-64038932	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553599470	chr13:64038944-64038945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558726334	chr13:64038951-64038952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578216219	chr13:64038952-64038953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374414314	chr13:64038963-64038964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557599677	chr13:64038985-64038986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138644479	chr13:64045814-64045815	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:64037800-64038800	Enhancers	GM12878-XiMat	blood
2	chr13:64038000-64039000	Enhancers	HMEC	breast
3	chr13:64038200-64038400	Enhancers	Gastric	stomach
4	chr13:64038400-64038800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:64038400-64039000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:64045800-64046000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:64052400-64052800	Enhancers	Fetal Lung	lung
8	chr13:64052800-64055400	Weak transcription	Fetal Lung	lung
9	chr13:64055200-64055800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:64055200-64056000	Enhancers	Adipose Nuclei	Adipose
11	chr13:64055200-64056000	Enhancers	Osteobl	bone
12	chr13:64055200-64056200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:64055400-64055800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:64055400-64055800	Enhancers	Fetal Lung	lung
15	chr13:64055400-64055800	Enhancers	Fetal Muscle Leg	muscle
16	chr13:64055400-64056200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:64063800-64064000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:64063800-64064200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:64067400-64068200	Enhancers	NH-A	brain
20	chr13:64071200-64072600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:64075600-64076200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:64076200-64076400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr13:64076400-64077600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr13:64077600-64078000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr13:64086200-64086600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:64088000-64088200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:64088200-64089200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:64089200-64089600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr13:64091200-64091800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:64091400-64091800	Enhancers	Osteobl	bone
31	chr13:64091400-64092000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:64091400-64092000	Enhancers	Fetal Lung	lung
33	chr13:64091600-64091800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:64092200-64092800	Enhancers	HUVEC	blood vessel
35	chr13:64098200-64098400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr13:64098600-64099000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:64100000-64101600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:64101600-64101800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr13:64101600-64101800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr13:64101800-64105000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr13:64105200-64105400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr13:64112600-64114200	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr13:64114200-64117200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr13:64115400-64115600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
45	chr13:64115400-64115800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr13:64115400-64115800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr13:64115400-64115800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr13:64115400-64115800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr13:64115400-64116000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
50	chr13:64115400-64116000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links