Variant report

Variant	nsv437786
Chromosome Location	chr13:51318575-51331550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51330144..51332927-chr13:51336662..51340363,3	MCF-7	breast:

Extended variants
information (count: 571 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7989422	chr13:51318575-51318576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs7989430	chr13:51318583-51318584	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs542041350	chr13:51318584-51318585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs193096523	chr13:51318628-51318629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185064852	chr13:51318629-51318630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188214703	chr13:51318638-51318639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180965990	chr13:51318641-51318642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373289498	chr13:51318668-51318669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539327532	chr13:51318682-51318683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572005380	chr13:51318698-51318699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74081116	chr13:51318715-51318716	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183866959	chr13:51318750-51318751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189430253	chr13:51318753-51318754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557596396	chr13:51318775-51318776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535699612	chr13:51318784-51318785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs137880403	chr13:51318895-51318896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568946322	chr13:51318907-51318908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181399798	chr13:51318957-51318958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2706245	chr13:51318978-51318979	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572832993	chr13:51318989-51318990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533559763	chr13:51319031-51319032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370879289	chr13:51319049-51319050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186545216	chr13:51319075-51319076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1853561	chr13:51319083-51319084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114989504	chr13:51319097-51319098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557572703	chr13:51319103-51319104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575745880	chr13:51319135-51319136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529612230	chr13:51319152-51319153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142364376	chr13:51319198-51319199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564437486	chr13:51319205-51319206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192070996	chr13:51319210-51319211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540633333	chr13:51319281-51319282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs611457	chr13:51319282-51319283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186384148	chr13:51319284-51319285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2126365	chr13:51319311-51319312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550888596	chr13:51319354-51319355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146020816	chr13:51319466-51319467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2615123	chr13:51319525-51319526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs139655111	chr13:51319531-51319532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551521802	chr13:51319571-51319572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566468452	chr13:51319624-51319625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113119282	chr13:51319654-51319655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375960481	chr13:51319670-51319671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187912489	chr13:51319694-51319695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74081118	chr13:51319710-51319711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs557354539	chr13:51319744-51319745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148279190	chr13:51319753-51319754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546101584	chr13:51319803-51319804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141377288	chr13:51319833-51319834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76117100	chr13:51319836-51319837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Myelofibrosis	22110671	CNVD
Hereditary prostate cancer	22028916	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Prostate cancer	17217626	CNVD
Ovarian cancer	21781307	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21990379	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51315600-51330400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:51317400-51319800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr13:51318000-51318600	Enhancers	HepG2	liver
4	chr13:51318200-51319200	Enhancers	Fetal Intestine Large	intestine
5	chr13:51318400-51319800	Weak transcription	Dnd41	blood
6	chr13:51319800-51320000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr13:51319800-51320000	Enhancers	Dnd41	blood
8	chr13:51320000-51320800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr13:51320800-51323000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr13:51321400-51321800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:51321600-51322400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:51321600-51323000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:51321800-51322000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:51321800-51322200	Enhancers	Brain Anterior Caudate	brain
15	chr13:51322000-51322200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:51322000-51322800	Enhancers	Fetal Muscle Leg	muscle
17	chr13:51322200-51322400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:51322400-51322800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:51322800-51323000	Enhancers	Primary B cells from peripheral blood	blood
20	chr13:51323400-51324800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr13:51324200-51331800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr13:51324800-51328000	Enhancers	Primary B cells from peripheral blood	blood
23	chr13:51325200-51326600	Enhancers	Primary B cells from cord blood	blood
24	chr13:51326200-51326800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:51326600-51329000	Weak transcription	Primary B cells from cord blood	blood
26	chr13:51329000-51329400	ZNF genes & repeats	Primary B cells from cord blood	blood
27	chr13:51329000-51330400	Enhancers	Dnd41	blood
28	chr13:51329200-51331400	Enhancers	Primary B cells from peripheral blood	blood
29	chr13:51329400-51329600	Weak transcription	Primary B cells from cord blood	blood
30	chr13:51329600-51331400	Enhancers	Primary B cells from cord blood	blood
31	chr13:51329800-51330400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr13:51329800-51331200	Enhancers	Thymus	Thymus
33	chr13:51329800-51331400	Enhancers	Fetal Thymus	thymus
34	chr13:51329800-51331800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr13:51330000-51330400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr13:51330000-51330600	Enhancers	NHEK	skin
37	chr13:51330000-51331200	Enhancers	Right Ventricle	heart
38	chr13:51330000-51331400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:51330000-51331400	Enhancers	Fetal Muscle Leg	muscle
40	chr13:51330000-51331600	Enhancers	HMEC	breast
41	chr13:51330200-51330800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:51330200-51330800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:51330200-51331000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:51330200-51331200	Enhancers	Fetal Muscle Trunk	muscle
45	chr13:51330400-51330600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:51330400-51330800	Enhancers	Left Ventricle	heart
47	chr13:51330400-51331000	Enhancers	GM12878-XiMat	blood
48	chr13:51330400-51331200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr13:51330400-51331200	Enhancers	Adipose Nuclei	Adipose
50	chr13:51330400-51331400	Enhancers	H9 Cell Line	embryonic stem cell

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