Variant report

Variant	nsv976152
Chromosome Location	chr13:111604319-111609360
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	chr13:111596342..111598319-chr13:111607475..111610357,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD10-1	chr13:111608813-111608988	XLOC_010724
2	lnc-ANKRD10-1	chr13:111608858-111608988	NONHSAT035195

Extended variants
information (count: 272 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562152162	chr13:111604345-111604346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111391355	chr13:111604357-111604358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs150591026	chr13:111604366-111604367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111486269	chr13:111604374-111604375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180795038	chr13:111604390-111604391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527528071	chr13:111604446-111604447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74128719	chr13:111604451-111604452	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144641814	chr13:111604464-111604465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538146927	chr13:111604594-111604595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185367695	chr13:111604617-111604618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148481633	chr13:111604630-111604631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4000211	chr13:111604661-111604662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4000212	chr13:111604663-111604664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535848631	chr13:111604739-111604740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554338350	chr13:111604755-111604756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2296891	chr13:111604759-111604760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572489620	chr13:111604783-111604784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188558123	chr13:111604803-111604804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9522012	chr13:111604808-111604809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4000213	chr13:111604826-111604827	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs113690131	chr13:111604832-111604833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562038988	chr13:111604875-111604876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181285855	chr13:111604940-111604941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574120660	chr13:111604950-111604951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139822995	chr13:111604962-111604963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112442474	chr13:111604992-111604993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553620735	chr13:111604999-111605000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527402395	chr13:111605035-111605036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61969312	chr13:111605063-111605064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539108777	chr13:111605067-111605068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564316181	chr13:111605068-111605069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186809803	chr13:111605072-111605073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs118025979	chr13:111605073-111605074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs191541347	chr13:111605109-111605110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149914599	chr13:111605117-111605118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200164042	chr13:111605118-111605119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55812376	chr13:111605161-111605162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565909012	chr13:111605162-111605163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539928099	chr13:111605176-111605177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35263372	chr13:111605181-111605182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183844669	chr13:111605182-111605183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537224231	chr13:111605183-111605184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371396898	chr13:111605185-111605186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555674097	chr13:111605198-111605199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574009896	chr13:111605223-111605224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149824059	chr13:111605225-111605226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553731302	chr13:111605240-111605241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145886994	chr13:111605245-111605246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545924959	chr13:111605257-111605258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564023699	chr13:111605267-111605268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	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
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111597200-111606400	Weak transcription	NHLF	lung
2	chr13:111598800-111606200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:111598800-111607400	Weak transcription	Right Ventricle	heart
4	chr13:111602400-111605600	Enhancers	K562	blood
5	chr13:111603200-111605800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:111603600-111605600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr13:111604000-111604800	Weak transcription	GM12878-XiMat	blood
8	chr13:111604000-111607000	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:111604200-111604400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:111604200-111605400	Enhancers	Stomach Mucosa	stomach
11	chr13:111604200-111605600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:111604200-111605600	Enhancers	NHEK	skin
13	chr13:111604200-111606000	Enhancers	HMEC	breast
14	chr13:111604200-111607000	Weak transcription	Hela-S3	cervix
15	chr13:111604400-111607000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr13:111604600-111610200	Enhancers	Placenta	Placenta
17	chr13:111604800-111605000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:111604800-111605200	Enhancers	GM12878-XiMat	blood
19	chr13:111605000-111605200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:111605000-111606800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:111605200-111605400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr13:111605200-111607200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:111605400-111606600	Weak transcription	Stomach Mucosa	stomach
24	chr13:111605400-111606800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:111605400-111608000	Enhancers	Fetal Muscle Trunk	muscle
26	chr13:111605600-111606600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr13:111605600-111606800	Weak transcription	K562	blood
28	chr13:111605600-111607200	Weak transcription	NHEK	skin
29	chr13:111605600-111609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:111605800-111607200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:111605800-111607600	Enhancers	Ovary	ovary
32	chr13:111606000-111606200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:111606000-111607000	Weak transcription	HMEC	breast
34	chr13:111606200-111606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr13:111606200-111607800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:111606400-111606800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr13:111606400-111607800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr13:111606400-111608200	Enhancers	NHLF	lung
39	chr13:111606400-111608800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr13:111606600-111607600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:111606600-111607600	Enhancers	Placenta Amnion	Placenta Amnion
42	chr13:111606600-111608000	Enhancers	Stomach Mucosa	stomach
43	chr13:111606600-111608800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr13:111606600-111608800	Enhancers	NHDF-Ad	bronchial
45	chr13:111606800-111607200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr13:111606800-111607200	Enhancers	HSMMtube	muscle
47	chr13:111606800-111607400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:111606800-111607800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:111606800-111608200	Enhancers	HUVEC	blood vessel
50	chr13:111606800-111608200	Enhancers	K562	blood

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