Variant report

Variant	nsv456115
Chromosome Location	chr13:110756664-110806490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:14)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:110445785..110447746-chr13:110765342..110767976,2	MCF-7	breast:
2	chr13:110790546..110793559-chr13:110794348..110799306,5	MCF-7	breast:
3	chr13:110417399..110417917-chr13:110760942..110761494,2	MCF-7	breast:
4	chr13:110753728..110755942-chr13:110757866..110759784,2	K562	blood:
5	chr13:110436205..110441713-chr13:110758837..110762777,7	MCF-7	breast:
6	chr13:110769994..110772224-chr13:110776399..110779306,2	MCF-7	breast:
7	chr13:109613700..109614457-chr13:110760895..110761419,2	MCF-7	breast:
8	chr13:110780351..110781890-chr13:110782553..110784222,2	MCF-7	breast:
9	chr13:110443953..110447179-chr13:110758507..110762069,3	MCF-7	breast:
10	chr13:110780351..110781890-chr13:110782553..110784222,2	MCF-7	breast:
11	chr13:110791009..110793227-chr13:110794639..110796832,2	MCF-7	breast:
12	chr1:233748905..233749664-chr13:110790871..110791779,2	Hela-S3	cervix:
13	chr13:110768940..110770470-chr13:110777999..110780195,2	K562	blood:
14	chr13:110791009..110793227-chr13:110794639..110796832,2	MCF-7	breast:
15	chr1:228270488..228271203-chr13:110790474..110791299,2	Hela-S3	cervix:
16	chr13:110651354..110653633-chr13:110756277..110757904,2	MCF-7	breast:
17	chr13:110790546..110793559-chr13:110794348..110799306,5	MCF-7	breast:
18	chr13:109567424..109568073-chr13:110760960..110761768,2	MCF-7	breast:
19	chr13:110654511..110656415-chr13:110759069..110761693,2	MCF-7	breast:
20	chr13:110790128..110791725-chr13:110793151..110794928,2	K562	blood:
21	chr13:110769994..110772224-chr13:110776399..110779306,2	MCF-7	breast:
22	chr13:110651999..110652742-chr13:110760981..110761503,2	MCF-7	breast:
23	chr13:110760613..110762563-chr13:110777021..110779083,2	MCF-7	breast:
24	chr13:110436096..110439350-chr13:110760184..110763012,5	MCF-7	breast:
25	chr13:110583476..110584263-chr13:110760363..110760981,2	MCF-7	breast:
26	chr13:110781644..110784725-chr13:110789802..110792162,3	MCF-7	breast:
27	chr13:110761020..110763183-chr13:110765963..110768234,2	MCF-7	breast:
28	chr13:110760613..110762563-chr13:110777021..110779083,2	MCF-7	breast:
29	chr13:110761020..110763183-chr13:110765963..110768234,2	MCF-7	breast:
30	chr13:110768940..110770470-chr13:110777999..110780195,2	K562	blood:
31	chr13:110781644..110784725-chr13:110789802..110792162,3	MCF-7	breast:
32	chr13:110790128..110791725-chr13:110793151..110794928,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-1	chr13:110774616-110774690	XLOC_010497
2	lnc-COL4A1-3	chr13:110769924-110770858	l_918_chr13:110767285-110770858_testes
3	lnc-COL4A1-3	chr13:110767286-110769562	l_918_chr13:110767285-110770858_testes
4	lnc-COL4A2-1	chr13:110774800-110774945	XLOC_010497
5	lnc-COL4A2-5	chr13:110775555-110777581	NONHSAT035138

No data

(count:14 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	COL4A1	hsa-miR-29a-3p	chr13:110802679-110802672
2	COL4A1	hsa-miR-29c-3p	chr13:110802673-110802697
3	COL4A1	hsa-miR-29c-3p	chr13:110802679-110802672
4	COL4A1	hsa-miR-16-5p	chr13:110801337-110801358
5	COL4A1	hsa-miR-29b-3p	chr13:110802401-110802395
6	COL4A1	hsa-miR-29c-3p	chr13:110802401-110802395
7	COL4A1	hsa-miR-124-3p	chr13:110802585-110802607
8	COL4A1	hsa-miR-218-5p	chr13:110801625-110801646
9	COL4A1	hsa-miR-29a-3p	chr13:110802673-110802697
10	COL4A1	hsa-miR-29b-3p	chr13:110802679-110802672
11	COL4A1	hsa-miR-29b-3p	chr13:110802673-110802698
12	COL4A1	hsa-miR-124-3p	chr13:110802591-110802584
13	COL4A1	hsa-miR-29a-3p	chr13:110802401-110802395
14	COL4A1	hsa-miR-125a-5p	chr13:110801773-110801796

Variant related genes	Relation type
ENSG00000143761	chromatin interactions
ENSG00000185950	chromatin interactions

Extended variants
information (count: 2020 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2020 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2391812	chr13:110756664-110756665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537030762	chr13:110756667-110756668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532365435	chr13:110756668-110756669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552070972	chr13:110756685-110756686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565808689	chr13:110756745-110756746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539092015	chr13:110756787-110756788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374550863	chr13:110756788-110756789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111624297	chr13:110756830-110756831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377389520	chr13:110756859-110756860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546088825	chr13:110756870-110756871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536960564	chr13:110756875-110756876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150319165	chr13:110756882-110756883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186596151	chr13:110756895-110756896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573207849	chr13:110756896-110756897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539264264	chr13:110756926-110756927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558884730	chr13:110756938-110756939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572212205	chr13:110756945-110756946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73622452	chr13:110756948-110756949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370900481	chr13:110756971-110756972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560963886	chr13:110756978-110756979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs80347920	chr13:110757020-110757021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543431382	chr13:110757031-110757032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563634942	chr13:110757039-110757040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114055253	chr13:110757093-110757094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113254984	chr13:110757116-110757117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190991782	chr13:110757124-110757125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs58282259	chr13:110757183-110757184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs528203655	chr13:110757193-110757194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180986987	chr13:110757202-110757203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568082809	chr13:110757204-110757205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117622613	chr13:110757217-110757218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550287825	chr13:110757226-110757227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570377064	chr13:110757229-110757230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184938205	chr13:110757253-110757254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559116927	chr13:110757326-110757327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4773123	chr13:110757338-110757339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs143185455	chr13:110757376-110757377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554672627	chr13:110757413-110757414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2166209	chr13:110757480-110757481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs138731879	chr13:110757505-110757506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529303159	chr13:110757513-110757514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191030259	chr13:110757519-110757520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73622456	chr13:110757541-110757542	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs374232084	chr13:110757598-110757599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577069579	chr13:110757613-110757614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75754581	chr13:110757644-110757645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117624157	chr13:110757661-110757662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183166109	chr13:110757663-110757664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116989317	chr13:110757745-110757746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111753917	chr13:110757748-110757749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	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
Glioma	20126413	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1664 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110747600-110758400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr13:110748400-110758400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr13:110755000-110757200	Enhancers	HMEC	breast
4	chr13:110755400-110756800	Enhancers	NHEK	skin
5	chr13:110755400-110757000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:110755400-110760000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr13:110755800-110757000	Weak transcription	Pancreas	Pancrea
8	chr13:110755800-110758600	Weak transcription	Adipose Nuclei	Adipose
9	chr13:110756000-110758400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr13:110756200-110759000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:110756400-110758600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:110756400-110761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:110756600-110760800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:110756800-110758600	Enhancers	Placenta	Placenta
15	chr13:110756800-110761200	Weak transcription	NHEK	skin
16	chr13:110757000-110757200	Enhancers	Fetal Stomach	stomach
17	chr13:110757000-110759600	Enhancers	Pancreas	Pancrea
18	chr13:110757000-110761400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr13:110757200-110757400	Enhancers	Lung	lung
20	chr13:110757200-110757800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr13:110757200-110758400	Weak transcription	Fetal Stomach	stomach
22	chr13:110757200-110759000	Enhancers	Stomach Smooth Muscle	stomach
23	chr13:110757200-110759800	Enhancers	Fetal Heart	heart
24	chr13:110757200-110759800	Enhancers	Left Ventricle	heart
25	chr13:110757200-110761000	Weak transcription	HMEC	breast
26	chr13:110757200-110761200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:110757400-110757600	Enhancers	Fetal Muscle Leg	muscle
28	chr13:110757400-110759200	Enhancers	Right Atrium	heart
29	chr13:110757400-110760800	Weak transcription	Lung	lung
30	chr13:110757600-110757800	Enhancers	Aorta	Aorta
31	chr13:110757600-110757800	Enhancers	Right Ventricle	heart
32	chr13:110757600-110759000	Weak transcription	Fetal Muscle Leg	muscle
33	chr13:110757600-110759600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr13:110757800-110758800	Weak transcription	Aorta	Aorta
35	chr13:110757800-110759000	Weak transcription	Right Ventricle	heart
36	chr13:110757800-110761600	Weak transcription	Brain Substantia Nigra	brain
37	chr13:110757800-110761600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr13:110758400-110758600	Enhancers	Fetal Stomach	stomach
39	chr13:110758400-110759000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr13:110758400-110759600	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr13:110758400-110759800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr13:110758400-110760000	Enhancers	Colon Smooth Muscle	Colon
43	chr13:110758400-110760000	Enhancers	Rectal Smooth Muscle	rectum
44	chr13:110758400-110761800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr13:110758600-110759400	Enhancers	Adipose Nuclei	Adipose
46	chr13:110758600-110759400	Enhancers	Fetal Lung	lung
47	chr13:110758600-110759400	Weak transcription	Fetal Stomach	stomach
48	chr13:110758600-110759800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr13:110758600-110761400	Weak transcription	Placenta	Placenta
50	chr13:110758800-110759200	Enhancers	Aorta	Aorta

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