Variant report

Variant	nsv969212
Chromosome Location	chr5:17070735-17098476
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:17072245..17074328-chr5:17081355..17083029,2	MCF-7	breast:
2	chr5:17068695..17071363-chr5:17076784..17079484,2	MCF-7	breast:
3	chr5:17076577..17078375-chr5:17096009..17098566,2	MCF-7	breast:
4	chr20:52740441..52742261-chr5:17072460..17075149,2	MCF-7	breast:
5	chr5:17068695..17071363-chr5:17076784..17079484,2	MCF-7	breast:
6	chr5:17072245..17074328-chr5:17081355..17083029,2	MCF-7	breast:
7	chr5:17076577..17078375-chr5:17096009..17098566,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-2	chr5:17089182-17089310	XLOC_004306

No data

Extended variants
information (count: 1289 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1289 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570064818	chr5:17070749-17070750	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs531027415	chr5:17070756-17070757	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs549157522	chr5:17070761-17070762	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs187698481	chr5:17070797-17070798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534952548	chr5:17070869-17070870	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs148987805	chr5:17070903-17070904	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs376797798	chr5:17070908-17070909	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs538845720	chr5:17070918-17070919	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs557109194	chr5:17070919-17070920	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs191463418	chr5:17070938-17070939	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs75118293	chr5:17070975-17070976	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554300268	chr5:17070982-17070983	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111338469	chr5:17070983-17070984	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs535214384	chr5:17070992-17070993	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs7717444	chr5:17071006-17071007	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539810805	chr5:17071023-17071024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143747594	chr5:17071026-17071027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183736764	chr5:17071106-17071107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28412452	chr5:17071142-17071143	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563904533	chr5:17071149-17071150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190020597	chr5:17071178-17071179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111741216	chr5:17071188-17071189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148118128	chr5:17071189-17071190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35314999	chr5:17071196-17071197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs74420639	chr5:17071200-17071201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114731836	chr5:17071327-17071328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571608176	chr5:17071360-17071361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538931228	chr5:17071444-17071445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541932250	chr5:17071452-17071453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532873206	chr5:17071460-17071461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557408103	chr5:17071483-17071484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369770818	chr5:17071496-17071497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569017299	chr5:17071565-17071566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369015781	chr5:17071586-17071587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536024058	chr5:17071596-17071597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554668913	chr5:17071618-17071619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572554101	chr5:17071624-17071625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533555827	chr5:17071629-17071630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142826680	chr5:17071645-17071646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577966188	chr5:17071725-17071726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545663319	chr5:17071751-17071752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78425758	chr5:17071757-17071758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs575812434	chr5:17071764-17071765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542824776	chr5:17071787-17071788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561370959	chr5:17071798-17071799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192629542	chr5:17071872-17071873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547063289	chr5:17071874-17071875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4235557	chr5:17071880-17071881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs146061509	chr5:17071882-17071883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2128305	chr5:17071895-17071896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17068400-17076400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:17069600-17070800	Enhancers	Fetal Muscle Leg	muscle
3	chr5:17069600-17070800	Enhancers	Ovary	ovary
4	chr5:17069600-17071000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:17069600-17071000	Enhancers	Fetal Lung	lung
6	chr5:17069600-17071400	Enhancers	Stomach Mucosa	stomach
7	chr5:17069600-17071600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:17069800-17070800	Enhancers	Fetal Stomach	stomach
9	chr5:17069800-17070800	Enhancers	HSMMtube	muscle
10	chr5:17069800-17071200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:17069800-17071200	Enhancers	HUVEC	blood vessel
12	chr5:17069800-17071400	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr5:17070000-17070800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:17070000-17070800	Flanking Active TSS	A549	lung
15	chr5:17070000-17071000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:17070000-17071000	Enhancers	Duodenum Mucosa	Duodenum
17	chr5:17070000-17071000	Flanking Active TSS	Hela-S3	cervix
18	chr5:17070000-17071000	Enhancers	K562	blood
19	chr5:17070000-17071200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:17070000-17071400	Enhancers	NHEK	skin
21	chr5:17070200-17071000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:17070200-17071000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:17070200-17071000	Enhancers	Adipose Nuclei	Adipose
24	chr5:17070200-17071000	Enhancers	HSMM	muscle
25	chr5:17070200-17071400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:17070400-17075000	Weak transcription	Fetal Kidney	kidney
27	chr5:17070600-17071000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:17070600-17076000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:17070600-17076000	Weak transcription	Left Ventricle	heart
30	chr5:17070600-17076200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:17070600-17079800	Weak transcription	Gastric	stomach
32	chr5:17070600-17080600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr5:17070800-17071400	Enhancers	A549	lung
34	chr5:17070800-17073600	Weak transcription	Ovary	ovary
35	chr5:17070800-17075400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:17071000-17071400	Enhancers	Hela-S3	cervix
37	chr5:17071000-17075600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:17071200-17075000	Weak transcription	HUVEC	blood vessel
39	chr5:17071400-17073600	Weak transcription	Stomach Mucosa	stomach
40	chr5:17071600-17075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr5:17073600-17073800	Enhancers	Stomach Mucosa	stomach
42	chr5:17073600-17074400	Enhancers	Ovary	ovary
43	chr5:17073800-17074200	Weak transcription	Stomach Mucosa	stomach
44	chr5:17074200-17075800	Enhancers	Stomach Mucosa	stomach
45	chr5:17074400-17077400	Weak transcription	Ovary	ovary
46	chr5:17075000-17076800	Enhancers	Fetal Kidney	kidney
47	chr5:17075000-17079400	Enhancers	HUVEC	blood vessel
48	chr5:17075200-17075400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:17075200-17075400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr5:17075200-17075600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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