Variant report

Variant	nsv1022838
Chromosome Location	chr5:27324221-27411288
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:16)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:133852407..133853154-chr5:27377165..27378018,2	MCF-7	breast:
2	chr5:27386479..27389149-chr5:27394969..27398145,3	K562	blood:
3	chr5:27384539..27388630-chr5:27389237..27391656,3	K562	blood:
4	chr5:27384539..27388630-chr5:27389237..27391656,3	K562	blood:
5	chr5:27330938..27332743-chr5:27335192..27337537,2	MCF-7	breast:
6	chr5:27356861..27358465-chr5:27382622..27384445,2	K562	blood:
7	chr5:27356861..27358465-chr5:27382622..27384445,2	K562	blood:
8	chr1:121484566..121485406-chr5:27325124..27325624,2	MCF-7	breast:
9	chr5:27384451..27386814-chr5:27398781..27400428,2	K562	blood:
10	chr5:27367781..27370478-chr5:27378982..27381299,2	MCF-7	breast:
11	chr5:27367781..27370478-chr5:27378982..27381299,2	MCF-7	breast:
12	chr5:27384451..27386814-chr5:27398781..27400428,2	K562	blood:
13	chr5:27410717..27413698-chr5:27423274..27425658,2	K562	blood:
14	chr5:27330938..27332743-chr5:27335192..27337537,2	MCF-7	breast:
15	chr5:27386479..27389149-chr5:27394969..27398145,3	K562	blood:
16	chr5:27226976..27228846-chr5:27344849..27346481,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
2	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
3	lnc-CDH9-2	chr5:27409693-27409751	XLOC_004761
4	lnc-CDH9-2	chr5:27410327-27410387	XLOC_004761
5	lnc-CDH9-2	chr5:27406640-27406877	XLOC_004761
6	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761

No data

Variant related genes	Relation type
CHEK1	miRNA target sites
YWHAQ	miRNA target sites

Extended variants
information (count: 1092 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1092 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16896665	chr5:27324221-27324222	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551658513	chr5:27324248-27324249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187839791	chr5:27324276-27324277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377044628	chr5:27324348-27324349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557368446	chr5:27324362-27324363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535035692	chr5:27324395-27324396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553479218	chr5:27324417-27324418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575011828	chr5:27324443-27324444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536029005	chr5:27324464-27324465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79731780	chr5:27324491-27324492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143477165	chr5:27324494-27324495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192510920	chr5:27324530-27324531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564448071	chr5:27324547-27324548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572470745	chr5:27324560-27324561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376987573	chr5:27324635-27324636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539864299	chr5:27324697-27324698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541377927	chr5:27324731-27324732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561431004	chr5:27324747-27324748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148011852	chr5:27324769-27324770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550747522	chr5:27324837-27324838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562496299	chr5:27324998-27324999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184622988	chr5:27325008-27325009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs3846560	chr5:27325027-27325028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187897047	chr5:27325073-27325074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534991851	chr5:27325090-27325091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547053263	chr5:27325095-27325096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568534163	chr5:27325102-27325103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535624793	chr5:27325135-27325136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370333311	chr5:27325142-27325143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373870602	chr5:27325169-27325170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557432160	chr5:27325198-27325199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538597907	chr5:27325304-27325305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35496417	chr5:27325329-27325330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34305799	chr5:27325342-27325343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72729030	chr5:27325360-27325361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs191948050	chr5:27325491-27325492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558001397	chr5:27325567-27325568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573229054	chr5:27325586-27325587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540707081	chr5:27325609-27325610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375030512	chr5:27325635-27325636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142323501	chr5:27325638-27325639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377544623	chr5:27325654-27325655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572435096	chr5:27325666-27325667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs370506728	chr5:27325668-27325669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573584454	chr5:27325723-27325724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74840574	chr5:27325809-27325810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562616604	chr5:27325830-27325831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532953050	chr5:27325841-27325842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34218630	chr5:27325850-27325851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543737840	chr5:27325860-27325861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27316800-27329600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:27326000-27326200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:27326200-27328400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:27328400-27329000	Enhancers	HMEC	breast
5	chr5:27328400-27329200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:27328400-27329200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:27328600-27329200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:27328600-27329200	Enhancers	NHEK	skin
9	chr5:27328800-27329200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:27329600-27330400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:27330400-27343800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:27341200-27341800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr5:27341400-27341800	Enhancers	Fetal Kidney	kidney
14	chr5:27341600-27342000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:27341800-27342800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:27342400-27343000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:27342800-27343000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:27371200-27371600	Enhancers	Esophagus	oesophagus
19	chr5:27377800-27378400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:27378000-27378400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr5:27387000-27389200	Enhancers	HepG2	liver
22	chr5:27387400-27388200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:27387600-27388000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:27387600-27388200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:27387600-27388200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:27387600-27388200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr5:27387600-27388200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:27387600-27388800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:27388200-27389800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:27388600-27389800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:27388800-27389800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:27389200-27389600	Weak transcription	HepG2	liver
33	chr5:27389600-27390000	Enhancers	HepG2	liver
34	chr5:27389800-27390000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:27389800-27390200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:27392000-27393400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:27392400-27393600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:27402600-27404200	Active TSS	A549	lung
39	chr5:27403000-27403200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr5:27403000-27403200	Enhancers	Hela-S3	cervix
41	chr5:27403200-27403800	Active TSS	Hela-S3	cervix
42	chr5:27403200-27404000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:27403400-27403800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:27403400-27403800	Active TSS	Fetal Muscle Leg	muscle
45	chr5:27403400-27404000	Active TSS	HMEC	breast
46	chr5:27403400-27404000	Active TSS	Osteobl	bone
47	chr5:27403400-27404200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:27403600-27404000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr5:27410400-27411000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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