Variant report

Variant	nsv995000
Chromosome Location	chr13:94253664-94277058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 824 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:824 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577510160	chr13:94253669-94253670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539599484	chr13:94253670-94253671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12430154	chr13:94253774-94253775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79649570	chr13:94253785-94253786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542230831	chr13:94253789-94253790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561726913	chr13:94253923-94253924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183120950	chr13:94253938-94253939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548196168	chr13:94254047-94254048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74108602	chr13:94254099-94254100	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs545966778	chr13:94254106-94254107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559965818	chr13:94254132-94254133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188452821	chr13:94254139-94254140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562546917	chr13:94254156-94254157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34878391	chr13:94254221-94254222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552048381	chr13:94254283-94254284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562819832	chr13:94254309-94254310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12855067	chr13:94254433-94254434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548239657	chr13:94254435-94254436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs80105859	chr13:94254516-94254517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527427885	chr13:94254550-94254551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553913987	chr13:94254619-94254620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193036184	chr13:94254624-94254625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185100297	chr13:94254668-94254669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187859361	chr13:94254680-94254681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146059496	chr13:94254736-94254737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141983593	chr13:94254766-94254767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544618693	chr13:94254783-94254784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570356724	chr13:94254800-94254801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535759928	chr13:94254801-94254802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555382852	chr13:94254837-94254838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10546160	chr13:94254852-94254853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548221841	chr13:94254860-94254861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192478365	chr13:94254903-94254904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540983229	chr13:94254935-94254936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557843103	chr13:94254948-94254949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7489968	chr13:94254952-94254953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183759748	chr13:94254969-94254970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187988001	chr13:94254981-94254982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9589790	chr13:94254994-94254995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs192712164	chr13:94255011-94255012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567933171	chr13:94255045-94255046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531670520	chr13:94255095-94255096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542140078	chr13:94255103-94255104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184781423	chr13:94255159-94255160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527293456	chr13:94255193-94255194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148469064	chr13:94255234-94255235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28733338	chr13:94255245-94255246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28637878	chr13:94255246-94255247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375784031	chr13:94255252-94255253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142782481	chr13:94255268-94255269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	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
Metanephric adenoma	20802469	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94251800-94259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94252200-94254600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr13:94252400-94267600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:94252800-94254600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr13:94252800-94255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:94254400-94255200	Enhancers	HSMMtube	muscle
7	chr13:94254400-94256000	Enhancers	HSMM	muscle
8	chr13:94254400-94256000	Enhancers	Osteobl	bone
9	chr13:94254600-94254800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr13:94254600-94255400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr13:94254600-94255400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:94254600-94255600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:94254600-94256000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:94254600-94256000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr13:94254600-94256200	Enhancers	NHEK	skin
16	chr13:94254800-94255800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:94255000-94256000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:94255000-94256000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr13:94255200-94255400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr13:94255200-94255800	Enhancers	NH-A	brain
21	chr13:94255200-94256000	Enhancers	HMEC	breast
22	chr13:94255400-94267600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr13:94255600-94256000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:94255800-94256600	Enhancers	A549	lung
25	chr13:94256000-94267000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr13:94256000-94276400	Weak transcription	HSMM	muscle
27	chr13:94259600-94259800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:94259600-94260000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr13:94259800-94263000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr13:94262000-94262800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr13:94262000-94262800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr13:94262000-94262800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr13:94262200-94262800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr13:94262600-94262800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr13:94263000-94263600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:94263600-94280000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr13:94265000-94266000	Enhancers	Fetal Heart	heart
38	chr13:94266000-94266600	Weak transcription	Fetal Heart	heart
39	chr13:94266400-94267800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:94266600-94267200	Enhancers	Fetal Heart	heart
41	chr13:94267000-94268000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:94267200-94268800	Weak transcription	Fetal Heart	heart
43	chr13:94267600-94267800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr13:94267600-94268000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr13:94267600-94268000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr13:94267800-94272400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr13:94268800-94270000	Enhancers	Fetal Heart	heart
48	chr13:94270000-94276600	Weak transcription	Fetal Heart	heart
49	chr13:94271000-94271200	Enhancers	HepG2	liver
50	chr13:94271200-94280200	Weak transcription	HepG2	liver

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