Variant report

Variant	nsv901007
Chromosome Location	chr13:110793123-110813709
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:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:14)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr13:110791009..110793227-chr13:110794639..110796832,2	MCF-7	breast:
2	chr13:110790546..110793559-chr13:110794348..110799306,5	MCF-7	breast:
3	chr13:110791009..110793227-chr13:110794639..110796832,2	MCF-7	breast:
4	chr13:110790128..110791725-chr13:110793151..110794928,2	K562	blood:
5	chr13:110790546..110793559-chr13:110794348..110799306,5	MCF-7	breast:

No data

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

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

Extended variants
information (count: 897 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs656533	chr13:110793123-110793124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73624503	chr13:110793150-110793151	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs112651105	chr13:110793152-110793153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112911669	chr13:110793193-110793194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534504284	chr13:110793197-110793198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537580620	chr13:110793240-110793241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373556157	chr13:110793242-110793243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79149203	chr13:110793251-110793252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530110403	chr13:110793270-110793271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145652350	chr13:110793278-110793279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374179577	chr13:110793308-110793309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569921212	chr13:110793336-110793337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532359031	chr13:110793339-110793340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528949316	chr13:110793375-110793376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557481803	chr13:110793405-110793406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112799221	chr13:110793410-110793411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148532511	chr13:110793416-110793417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571431410	chr13:110793417-110793418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534450961	chr13:110793448-110793449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554638150	chr13:110793466-110793467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11841329	chr13:110793479-110793480	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs75286870	chr13:110793555-110793556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576292720	chr13:110793570-110793571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76722763	chr13:110793586-110793587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558915299	chr13:110793633-110793634	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs191058130	chr13:110793650-110793651	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs180956676	chr13:110793651-110793652	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs185884592	chr13:110793714-110793715	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs375255626	chr13:110793737-110793738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs561432743	chr13:110793754-110793755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs9588103	chr13:110793760-110793761	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs543800872	chr13:110793793-110793794	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs563593375	chr13:110793811-110793812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7325330	chr13:110793824-110793825	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552429871	chr13:110793848-110793849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559321870	chr13:110793886-110793887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561767581	chr13:110793918-110793919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528283919	chr13:110793939-110793940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547982271	chr13:110793949-110793950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79017384	chr13:110793951-110793952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536662759	chr13:110794008-110794009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371716048	chr13:110794011-110794012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570093383	chr13:110794020-110794021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111843082	chr13:110794074-110794075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369357796	chr13:110794094-110794095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74588337	chr13:110794134-110794135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572600077	chr13:110794140-110794141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142892259	chr13:110794158-110794159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554776023	chr13:110794171-110794172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574953380	chr13:110794185-110794186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	22522925	CNVD

Chromatin state (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110790600-110798400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:110791200-110794400	Weak transcription	HSMM	muscle
3	chr13:110791200-110798200	Weak transcription	Fetal Kidney	kidney
4	chr13:110791200-110798400	Weak transcription	Fetal Muscle Leg	muscle
5	chr13:110791200-110798600	Weak transcription	Aorta	Aorta
6	chr13:110791200-110800600	Weak transcription	HSMMtube	muscle
7	chr13:110791200-110800800	Weak transcription	Fetal Intestine Large	intestine
8	chr13:110791200-110802400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:110791200-110807200	Weak transcription	Colonic Mucosa	Colon
10	chr13:110791200-110811600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr13:110791200-110811800	Weak transcription	Right Atrium	heart
12	chr13:110791200-110825600	Weak transcription	Esophagus	oesophagus
13	chr13:110791400-110793200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:110791400-110795000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr13:110791400-110795600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:110791400-110796800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:110791400-110796800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr13:110791400-110796800	Weak transcription	Fetal Stomach	stomach
19	chr13:110791400-110798800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:110791400-110799000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr13:110791400-110799600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:110791400-110799600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr13:110791400-110799800	Weak transcription	Left Ventricle	heart
24	chr13:110791400-110800000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:110791400-110800000	Weak transcription	Ovary	ovary
26	chr13:110791400-110800200	Weak transcription	NH-A	brain
27	chr13:110791400-110800400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr13:110791400-110800600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr13:110791400-110800600	Weak transcription	Lung	lung
30	chr13:110791400-110800600	Weak transcription	Right Ventricle	heart
31	chr13:110791400-110800800	Weak transcription	Placenta	Placenta
32	chr13:110791400-110801000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:110791400-110802200	Weak transcription	Fetal Heart	heart
34	chr13:110791400-110802400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr13:110791400-110802400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr13:110791400-110802400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:110791400-110802400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr13:110791400-110802600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:110791400-110802600	Weak transcription	Pancreas	Pancrea
40	chr13:110791400-110802600	Weak transcription	Spleen	Spleen
41	chr13:110791400-110802600	Weak transcription	NHEK	skin
42	chr13:110791400-110802600	Weak transcription	NHLF	lung
43	chr13:110791400-110802800	Weak transcription	Liver	Liver
44	chr13:110791400-110802800	Weak transcription	Fetal Intestine Small	intestine
45	chr13:110791400-110806600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr13:110791400-110812800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:110791400-110813400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr13:110791400-110820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:110791400-110825800	Weak transcription	A549	lung
50	chr13:110791400-110868400	Weak transcription	Psoas Muscle	Psoas

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