Variant report

Variant	nsv1051680
Chromosome Location	chr13:94300798-94359894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:94330808..94333643-chr13:94334491..94337168,2	MCF-7	breast:
2	chr13:92008178..92010162-chr13:94344904..94347693,2	K562	blood:
3	chr13:94330808..94333643-chr13:94334491..94337168,2	MCF-7	breast:

Extended variants
information (count: 1701 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1701 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528757244	chr13:94300798-94300799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552107203	chr13:94300847-94300848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3848067	chr13:94300872-94300873	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531119199	chr13:94300886-94300887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550928577	chr13:94300931-94300932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200005661	chr13:94301040-94301041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189709255	chr13:94301060-94301061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536361488	chr13:94301081-94301082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546932355	chr13:94301109-94301110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566529534	chr13:94301113-94301114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538692328	chr13:94301139-94301140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557618473	chr13:94301211-94301212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74111520	chr13:94301223-94301224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537226908	chr13:94301250-94301251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143862304	chr13:94301293-94301294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556900659	chr13:94301321-94301322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573647675	chr13:94301330-94301331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542370275	chr13:94301354-94301355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559346933	chr13:94301481-94301482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372932340	chr13:94301493-94301494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572873100	chr13:94301497-94301498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545063985	chr13:94301501-94301502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565564402	chr13:94301515-94301516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58752260	chr13:94301545-94301546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148620785	chr13:94301562-94301563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551118278	chr13:94301568-94301569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182747055	chr13:94301574-94301575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186665024	chr13:94301578-94301579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565318137	chr13:94301616-94301617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566663016	chr13:94301620-94301621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35791336	chr13:94301632-94301633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369630753	chr13:94301653-94301654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191107911	chr13:94301661-94301662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530906607	chr13:94301700-94301701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552179915	chr13:94301713-94301714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373787137	chr13:94301723-94301724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536963546	chr13:94301751-94301752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557080335	chr13:94301760-94301761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183813436	chr13:94301831-94301832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551026726	chr13:94301833-94301834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544008378	chr13:94301835-94301836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188199877	chr13:94301886-94301887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573010684	chr13:94301910-94301911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192546702	chr13:94301942-94301943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558599820	chr13:94301943-94301944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575853450	chr13:94302017-94302018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371170068	chr13:94302061-94302062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561643881	chr13:94302077-94302078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544580529	chr13:94302080-94302081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561671461	chr13:94302089-94302090	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94295800-94301600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94296400-94304800	Weak transcription	Fetal Brain Female	brain
3	chr13:94300400-94301200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:94301600-94302200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr13:94302200-94302400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr13:94302400-94302600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:94302400-94302600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:94302600-94303000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:94302600-94303200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr13:94302600-94303800	Enhancers	Fetal Brain Male	brain
11	chr13:94302600-94304800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:94302800-94303200	Enhancers	Fetal Heart	heart
13	chr13:94302800-94303400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr13:94303000-94303600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:94303200-94303600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr13:94303200-94307400	Weak transcription	Fetal Heart	heart
17	chr13:94303600-94304000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr13:94303800-94304400	Weak transcription	Fetal Brain Male	brain
19	chr13:94304400-94306000	Enhancers	Fetal Brain Male	brain
20	chr13:94304600-94305000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr13:94304800-94305600	Enhancers	Fetal Brain Female	brain
22	chr13:94306000-94306400	Weak transcription	Fetal Brain Male	brain
23	chr13:94306400-94307600	Enhancers	Fetal Brain Male	brain
24	chr13:94307400-94307800	Enhancers	Fetal Heart	heart
25	chr13:94313600-94314200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr13:94316000-94316200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr13:94318200-94319600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr13:94318600-94319200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:94321800-94322000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:94322000-94326800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr13:94323000-94323400	Enhancers	Fetal Brain Female	brain
32	chr13:94323200-94324200	Enhancers	Aorta	Aorta
33	chr13:94323400-94323800	Enhancers	Colon Smooth Muscle	Colon
34	chr13:94323800-94324200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:94323800-94324200	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr13:94324000-94324200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:94324200-94325400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:94324200-94328600	Weak transcription	Aorta	Aorta
39	chr13:94325600-94325800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:94326200-94327000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr13:94326600-94327000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr13:94326800-94327000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr13:94327000-94341800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr13:94328600-94328800	Enhancers	Aorta	Aorta
45	chr13:94330800-94331200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:94331200-94336200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:94332000-94333600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:94332600-94333200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr13:94332600-94333200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:94333000-94333400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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