Variant report

Variant	nsv1026556
Chromosome Location	chr5:37896748-37911607
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:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:37898168..37900888-chr5:37902166..37904916,2	K562	blood:
2	chr5:37837313..37837893-chr5:37900824..37901423,2	MCF-7	breast:
3	chr5:37907286..37908926-chr5:37910657..37912434,2	K562	blood:
4	chr5:37905619..37906508-chr5:37980000..37980932,2	MCF-7	breast:
5	chr5:37837245..37837890-chr5:37900875..37901398,3	MCF-7	breast:
6	chr5:37412806..37413850-chr5:37900474..37901433,3	MCF-7	breast:
7	chr5:37907286..37908926-chr5:37910657..37912434,2	K562	blood:
8	chr5:37898168..37900888-chr5:37902166..37904916,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WDR70-6	chr5:37908083-37908324	l_2905_chr5:37907921-37910084_ovary
2	lnc-WDR70-6	chr5:37909966-37910084	l_2905_chr5:37907921-37910084_ovary
3	lnc-GDNF-1	chr5:37899465-37899770	XLOC_004788
4	lnc-WDR70-6	chr5:37907922-37908071	l_2905_chr5:37907921-37910084_ovary

No data

Extended variants
information (count: 247 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139407952	chr5:37896751-37896752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200437167	chr5:37896854-37896855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397715803	chr5:37896856-37896857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529794467	chr5:37896872-37896873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183368567	chr5:37896885-37896886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2973094	chr5:37896907-37896908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16903777	chr5:37896957-37896958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551780222	chr5:37897030-37897031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533533261	chr5:37897043-37897044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537775484	chr5:37897062-37897063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55643647	chr5:37897075-37897076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs117453946	chr5:37897076-37897077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535647319	chr5:37897124-37897125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552768338	chr5:37897144-37897145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554260635	chr5:37897153-37897154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559679193	chr5:37897187-37897188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572592529	chr5:37897193-37897194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs386687308	chr5:37899484-37899485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs17644636	chr5:37899486-37899487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs546613009	chr5:37899501-37899502	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs75840216	chr5:37899514-37899515	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs77148598	chr5:37899520-37899521	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs555654636	chr5:37899543-37899544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs6893625	chr5:37899572-37899573	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141837901	chr5:37899589-37899590	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs375241815	chr5:37899598-37899599	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs377397355	chr5:37899642-37899643	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs549147996	chr5:37899644-37899645	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs368470661	chr5:37899657-37899658	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs555399600	chr5:37899671-37899672	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs150177117	chr5:37899704-37899705	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs565659129	chr5:37899722-37899723	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs138748648	chr5:37899727-37899728	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs578179869	chr5:37899728-37899729	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs186225947	chr5:37899742-37899743	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs11741725	chr5:37899746-37899747	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs141773497	chr5:37899756-37899757	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs112641558	chr5:37899760-37899761	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs148622775	chr5:37900817-37900818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35456802	chr5:37900849-37900850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544295565	chr5:37900853-37900854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374742904	chr5:37900878-37900879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186988731	chr5:37900910-37900911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191525411	chr5:37900916-37900917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542688609	chr5:37900935-37900936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115899589	chr5:37900937-37900938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567107493	chr5:37900970-37900971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528188927	chr5:37900985-37900986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546681042	chr5:37900988-37900989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571273734	chr5:37900993-37900994	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	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
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19197363	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37896200-37897200	Enhancers	HSMMtube	muscle
2	chr5:37900800-37901200	Enhancers	Brain Angular Gyrus	brain
3	chr5:37900800-37901200	Enhancers	Left Ventricle	heart
4	chr5:37900800-37901600	Enhancers	Ovary	ovary
5	chr5:37900800-37902600	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr5:37900800-37902600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr5:37901000-37901400	Enhancers	Fetal Heart	heart
8	chr5:37901000-37901400	Enhancers	NHDF-Ad	bronchial
9	chr5:37901000-37901600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:37901000-37901600	Enhancers	Fetal Stomach	stomach
11	chr5:37901000-37902400	Enhancers	Fetal Muscle Leg	muscle
12	chr5:37901200-37901600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:37902000-37902400	Active TSS	Spleen	Spleen
14	chr5:37902600-37903400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr5:37903600-37903800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr5:37909400-37909600	Enhancers	GM12878-XiMat	blood
17	chr5:37909600-37910200	Flanking Active TSS	GM12878-XiMat	blood
18	chr5:37909800-37910800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr5:37909800-37910800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:37909800-37910800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:37910000-37910200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr5:37910000-37910200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
23	chr5:37910200-37910400	Enhancers	GM12878-XiMat	blood
24	chr5:37910400-37910800	Flanking Active TSS	GM12878-XiMat	blood
25	chr5:37910600-37910800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
26	chr5:37910800-37911000	Bivalent Enhancer	GM12878-XiMat	blood

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