Variant report

Variant	esv2760280
Chromosome Location	chr13:48909185-48911390
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	chr13:48908385..48909298-chr13:49342938..49343582,2	MCF-7	breast:
2	chr13:48908843..48909363-chr13:49153698..49154640,2	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181980758	chr13:48909197-48909198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555730977	chr13:48909272-48909273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140544121	chr13:48909317-48909318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149713929	chr13:48909319-48909320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74075923	chr13:48909335-48909336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114526597	chr13:48909372-48909373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545175293	chr13:48909455-48909456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57432224	chr13:48909481-48909482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527372821	chr13:48909487-48909488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145550095	chr13:48909510-48909511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560899972	chr13:48909515-48909516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74880289	chr13:48909532-48909533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs148906452	chr13:48909547-48909548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2804082	chr13:48909569-48909570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532480384	chr13:48909604-48909605	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs562729089	chr13:48909647-48909648	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs202095792	chr13:48909745-48909746	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs368222530	chr13:48909746-48909747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs547602746	chr13:48909775-48909776	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs371454291	chr13:48909808-48909809	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs531681314	chr13:48909830-48909831	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs142646934	chr13:48909868-48909869	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs568079786	chr13:48909882-48909883	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs534253181	chr13:48909899-48909900	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs555590924	chr13:48909907-48909908	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531374814	chr13:48909943-48909944	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs537873128	chr13:48910030-48910031	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs565322600	chr13:48910060-48910061	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs556166795	chr13:48910080-48910081	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs373730851	chr13:48910099-48910100	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577902054	chr13:48910124-48910125	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs567969138	chr13:48910127-48910128	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs545335195	chr13:48910162-48910163	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs554341949	chr13:48910176-48910177	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs146547314	chr13:48910204-48910205	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs537058695	chr13:48910207-48910208	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs34802393	chr13:48910227-48910228	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541537857	chr13:48910268-48910269	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs141214599	chr13:48910269-48910270	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs544935129	chr13:48910276-48910277	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs11407243	chr13:48910282-48910283	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs145077114	chr13:48910293-48910294	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs138857816	chr13:48910304-48910305	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs532442656	chr13:48910429-48910430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs61975676	chr13:48910440-48910441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61975677	chr13:48910447-48910448	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs150460674	chr13:48910451-48910452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61975678	chr13:48910471-48910472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61975679	chr13:48910473-48910474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61975680	chr13:48910478-48910479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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	17899364	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
Alveolar rhabdomyosarcoma	16790082	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
Ovarian cancer	22355333	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
Chronic lymphocytic leukemia	21670202	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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung adenocarcinoma	21151896	CNVD
Breast cancer	21518781	CNVD
Mantle cell lymphoma	21518781	CNVD
Ovarian cancer	21518781	CNVD
Retinoblastoma	21518781	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
Bipolar disorder	19214233	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48880200-48913200	Weak transcription	Aorta	Aorta
2	chr13:48880600-48924600	Weak transcription	Psoas Muscle	Psoas
3	chr13:48892600-48927800	Weak transcription	HUVEC	blood vessel
4	chr13:48894400-48913800	Weak transcription	HSMM	muscle
5	chr13:48894600-48919200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:48894800-48913200	Weak transcription	Lung	lung
7	chr13:48895200-48916800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr13:48895200-48923600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr13:48895200-48924600	Weak transcription	HSMMtube	muscle
10	chr13:48895400-48912800	Weak transcription	Fetal Thymus	thymus
11	chr13:48895400-48924800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:48895600-48913400	Weak transcription	Ovary	ovary
13	chr13:48895800-48919600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr13:48895800-48920400	Weak transcription	Right Ventricle	heart
15	chr13:48895800-48926600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr13:48896000-48913000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr13:48896000-48913000	Weak transcription	Left Ventricle	heart
18	chr13:48896000-48913000	Weak transcription	Thymus	Thymus
19	chr13:48896000-48919800	Weak transcription	Primary T cells from cord blood	blood
20	chr13:48896600-48913000	Weak transcription	Fetal Lung	lung
21	chr13:48897000-48917000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr13:48897400-48909800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr13:48900200-48913000	Weak transcription	Fetal Intestine Large	intestine
24	chr13:48902600-48912600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr13:48902600-48913000	Weak transcription	Esophagus	oesophagus
26	chr13:48903000-48912600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr13:48903400-48924400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr13:48904000-48912800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:48906600-48912400	Weak transcription	Primary B cells from cord blood	blood
30	chr13:48907600-48909200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:48907800-48909200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:48907800-48909200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:48908400-48913000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:48908400-48922200	Weak transcription	Liver	Liver
35	chr13:48908400-48944800	Weak transcription	Small Intestine	intestine
36	chr13:48908600-48912400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr13:48908600-48913000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:48908800-48909600	Weak transcription	Dnd41	blood
39	chr13:48908800-48912600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr13:48908800-48913000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:48908800-48917000	Weak transcription	NHDF-Ad	bronchial
42	chr13:48908800-48919200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:48908800-48919600	Weak transcription	HMEC	breast
44	chr13:48908800-48927600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr13:48909000-48913600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr13:48909000-48913600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr13:48909000-48923600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr13:48909000-48924400	Weak transcription	Osteobl	bone
49	chr13:48909000-48972200	Weak transcription	NHEK	skin
50	chr13:48909200-48910400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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