Variant report

Variant	nsv1027435
Chromosome Location	chr5:17068441-17095350
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	chr5:17068695..17071363-chr5:17076784..17079484,2	MCF-7	breast:
2	chr5:17068695..17071363-chr5:17076784..17079484,2	MCF-7	breast:
3	chr15:31658493..31659133-chr5:17069697..17070202,2	MCF-7	breast:
4	chr5:17072245..17074328-chr5:17081355..17083029,2	MCF-7	breast:
5	chr20:52740441..52742261-chr5:17072460..17075149,2	MCF-7	breast:
6	chr5:17076577..17078375-chr5:17096009..17098566,2	MCF-7	breast:
7	chr5:17072245..17074328-chr5:17081355..17083029,2	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: 1244 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1244 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561727988	chr5:17068450-17068451	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182080182	chr5:17068465-17068466	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547157861	chr5:17068488-17068489	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116228579	chr5:17068497-17068498	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532982482	chr5:17068509-17068510	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146029819	chr5:17068602-17068603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116537771	chr5:17068652-17068653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376538259	chr5:17068655-17068656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs62350299	chr5:17068659-17068660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148675230	chr5:17068683-17068684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568540386	chr5:17068694-17068695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535979489	chr5:17068728-17068729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75850224	chr5:17068753-17068754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553869931	chr5:17068763-17068764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185631783	chr5:17068770-17068771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572160824	chr5:17068796-17068797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574783424	chr5:17068821-17068822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539456446	chr5:17068828-17068829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557720511	chr5:17068875-17068876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575975652	chr5:17068914-17068915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542193078	chr5:17068977-17068978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563466125	chr5:17069029-17069030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75212258	chr5:17069030-17069031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561950738	chr5:17069061-17069062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573766724	chr5:17069062-17069063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142158475	chr5:17069076-17069077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559497199	chr5:17069102-17069103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74345267	chr5:17069118-17069119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191170595	chr5:17069145-17069146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563270889	chr5:17069222-17069223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532059990	chr5:17069248-17069249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6889336	chr5:17069266-17069267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564284327	chr5:17069278-17069279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568703904	chr5:17069307-17069308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528249235	chr5:17069308-17069309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535674894	chr5:17069315-17069316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183782119	chr5:17069317-17069318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188319816	chr5:17069322-17069323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371207536	chr5:17069324-17069325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539541350	chr5:17069337-17069338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193039035	chr5:17069344-17069345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576340084	chr5:17069380-17069381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537415502	chr5:17069384-17069385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10475096	chr5:17069392-17069393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573835507	chr5:17069421-17069422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568138751	chr5:17069423-17069424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576553518	chr5:17069467-17069468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541614504	chr5:17069487-17069488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566948549	chr5:17069488-17069489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34743746	chr5:17069489-17069490	Weak transcription	n/a	n/a	Overlapped CNVs	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:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17064600-17070000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:17065800-17069600	Weak transcription	Ovary	ovary
3	chr5:17066000-17069600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:17066400-17069600	Weak transcription	Fetal Lung	lung
5	chr5:17068000-17068600	Enhancers	A549	lung
6	chr5:17068200-17068600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:17068200-17068600	Enhancers	Duodenum Mucosa	Duodenum
8	chr5:17068200-17068600	Enhancers	Fetal Kidney	kidney
9	chr5:17068200-17068600	Enhancers	Stomach Mucosa	stomach
10	chr5:17068400-17068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:17068400-17070000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:17068400-17070200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:17068400-17076400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:17068600-17069600	Weak transcription	Stomach Mucosa	stomach
15	chr5:17068600-17069600	Weak transcription	A549	lung
16	chr5:17068600-17070000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr5:17068600-17070200	Weak transcription	Fetal Kidney	kidney
18	chr5:17068600-17070200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:17068800-17070200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:17069600-17070000	Enhancers	A549	lung
21	chr5:17069600-17070000	Enhancers	Hela-S3	cervix
22	chr5:17069600-17070600	Enhancers	Spleen	Spleen
23	chr5:17069600-17070800	Enhancers	Fetal Muscle Leg	muscle
24	chr5:17069600-17070800	Enhancers	Ovary	ovary
25	chr5:17069600-17071000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:17069600-17071000	Enhancers	Fetal Lung	lung
27	chr5:17069600-17071400	Enhancers	Stomach Mucosa	stomach
28	chr5:17069600-17071600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr5:17069800-17070800	Enhancers	Fetal Stomach	stomach
30	chr5:17069800-17070800	Enhancers	HSMMtube	muscle
31	chr5:17069800-17071200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:17069800-17071200	Enhancers	HUVEC	blood vessel
33	chr5:17069800-17071400	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr5:17070000-17070200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:17070000-17070600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:17070000-17070600	Enhancers	Fetal Muscle Trunk	muscle
37	chr5:17070000-17070600	Enhancers	Placenta	Placenta
38	chr5:17070000-17070600	Enhancers	Psoas Muscle	Psoas
39	chr5:17070000-17070600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr5:17070000-17070800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:17070000-17070800	Flanking Active TSS	A549	lung
42	chr5:17070000-17071000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:17070000-17071000	Enhancers	Duodenum Mucosa	Duodenum
44	chr5:17070000-17071000	Flanking Active TSS	Hela-S3	cervix
45	chr5:17070000-17071000	Enhancers	K562	blood
46	chr5:17070000-17071200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:17070000-17071400	Enhancers	NHEK	skin
48	chr5:17070200-17070400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:17070200-17070400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:17070200-17070400	Enhancers	Fetal Kidney	kidney

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