Variant report

Variant	nsv598413
Chromosome Location	chr5:68306058-68320702
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:15)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68303714..68306430-chr5:68307322..68309194,2	MCF-7	breast:
2	chr5:68311729..68314599-chr5:68315018..68317996,2	K562	blood:
3	chr5:68319742..68320506-chr5:68379422..68380332,4	MCF-7	breast:
4	chr5:68312049..68313667-chr5:68319112..68320759,2	K562	blood:
5	chr5:68314784..68316658-chr5:68339254..68342073,2	K562	blood:
6	chr5:68312049..68314191-chr5:68317998..68320759,3	K562	blood:
7	chr5:68312049..68313667-chr5:68319112..68320759,2	K562	blood:
8	chr5:68311729..68314599-chr5:68315018..68317996,2	K562	blood:
9	chr14:47749473..47749973-chr5:68319722..68320581,2	MCF-7	breast:
10	chr5:68303714..68306430-chr5:68307322..68309194,2	MCF-7	breast:
11	chr5:68319293..68321703-chr5:68323264..68324934,2	K562	blood:
12	chr5:68319705..68320603-chr5:68630318..68631248,3	K562	blood:
13	chr5:68312049..68314191-chr5:68317998..68320759,3	K562	blood:
14	chr5:68319643..68320584-chr5:68379379..68380063,3	K562	blood:
15	chr5:68320167..68322088-chr5:68342197..68344022,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC125-13	chr5:68320037-68320857	NONHSAT101881
2	lnc-CCDC125-13	chr5:68309537-68309757	NONHSAT101881

No data

Variant related genes	Relation type
ENSG00000250237	chromatin interactions

Extended variants
information (count: 245 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:245 , 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	rs12187051	chr5:68306058-68306059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562306758	chr5:68306067-68306068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529529428	chr5:68306070-68306071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368874623	chr5:68306133-68306134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566040875	chr5:68306146-68306147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539777664	chr5:68306170-68306171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199568236	chr5:68306224-68306225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377728946	chr5:68306228-68306229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190708324	chr5:68306250-68306251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373111988	chr5:68306283-68306284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374272733	chr5:68306308-68306309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374888038	chr5:68306309-68306310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555923915	chr5:68306340-68306341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567886554	chr5:68306378-68306379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553687052	chr5:68306413-68306414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146438752	chr5:68306442-68306443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572087088	chr5:68306484-68306485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545783513	chr5:68306486-68306487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139814514	chr5:68306516-68306517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557816289	chr5:68306523-68306524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78470421	chr5:68306539-68306540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368774347	chr5:68306550-68306551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544097010	chr5:68306589-68306590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562387488	chr5:68306623-68306624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115770950	chr5:68306627-68306628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541272714	chr5:68306630-68306631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559785373	chr5:68306654-68306655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181567661	chr5:68306660-68306661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6861898	chr5:68306669-68306670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6880936	chr5:68306670-68306671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148936931	chr5:68306671-68306672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200156181	chr5:68306680-68306681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200441826	chr5:68306792-68306793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397884015	chr5:68306793-68306794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551729504	chr5:68306806-68306807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569748791	chr5:68306807-68306808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530828678	chr5:68306852-68306853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369318024	chr5:68306867-68306868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186880326	chr5:68306884-68306885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568023641	chr5:68306888-68306889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535631058	chr5:68306899-68306900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553732171	chr5:68306902-68306903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529112330	chr5:68306946-68306947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191730071	chr5:68306968-68306969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539195278	chr5:68306970-68306971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557906021	chr5:68307070-68307071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576082720	chr5:68307075-68307076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542700921	chr5:68307103-68307104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560991263	chr5:68307124-68307125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373083763	chr5:68307163-68307164	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
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
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Lung adenocarcinoma	17086460	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Lung cancer	17086460	CNVD
Prostate cancer	16461572	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68306000-68307000	Weak transcription	Pancreas	Pancrea
2	chr5:68307000-68307400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:68307000-68308000	Enhancers	Pancreas	Pancrea
4	chr5:68307400-68307600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:68307800-68308200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:68307800-68308200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:68309200-68309600	Enhancers	Fetal Kidney	kidney
8	chr5:68314800-68315600	Enhancers	Primary T cells from cord blood	blood
9	chr5:68315400-68316200	Enhancers	Fetal Brain Female	brain
10	chr5:68315800-68316000	Bivalent Enhancer	NHDF-Ad	bronchial
11	chr5:68316200-68316600	Enhancers	Fetal Brain Male	brain
12	chr5:68318000-68318400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:68318200-68318800	Enhancers	HSMMtube	muscle
14	chr5:68318400-68320200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:68320200-68320400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:68320200-68320800	Enhancers	K562	blood
17	chr5:68320400-68327000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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