Variant report

Variant	nsv1067844
Chromosome Location	chr5:103822591-103842542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:102891327..102893155-chr5:103823232..103825009,2	K562	blood:

Variant related genes	Relation type
ENSG00000112874	chromatin interactions

Extended variants
information (count: 443 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71588346	chr5:103822639-103822640	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573737111	chr5:103822640-103822641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116690748	chr5:103822685-103822686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112720018	chr5:103822719-103822720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186731481	chr5:103822721-103822722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529395945	chr5:103822756-103822757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191194666	chr5:103822763-103822764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563835566	chr5:103822764-103822765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376326769	chr5:103822810-103822811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149476410	chr5:103822842-103822843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6866475	chr5:103822851-103822852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs143960003	chr5:103822852-103822853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373018343	chr5:103822889-103822890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571574194	chr5:103822900-103822901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377527299	chr5:103822912-103822913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71593273	chr5:103822938-103822939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76100346	chr5:103822940-103822941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376124747	chr5:103822963-103822964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535197208	chr5:103823019-103823020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370891720	chr5:103823022-103823023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564880694	chr5:103823047-103823048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552054290	chr5:103823080-103823081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6870849	chr5:103823112-103823113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6870851	chr5:103823116-103823117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558108899	chr5:103823141-103823142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529863347	chr5:103823150-103823151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577984494	chr5:103823175-103823176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367854589	chr5:103823185-103823186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192184174	chr5:103823199-103823200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574123251	chr5:103823206-103823207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554101690	chr5:103823235-103823236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185135740	chr5:103823249-103823250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs559378198	chr5:103823251-103823252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528480132	chr5:103823274-103823275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566562377	chr5:103823288-103823289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs551334032	chr5:103823289-103823290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs116564561	chr5:103823308-103823309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577869968	chr5:103823353-103823354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs71914185	chr5:103823379-103823380	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs181182419	chr5:103823382-103823383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs202033241	chr5:103823383-103823384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs67086628	chr5:103823384-103823385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs4703306	chr5:103823429-103823430	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs114282235	chr5:103823474-103823475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559590590	chr5:103823488-103823489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551194888	chr5:103823499-103823500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188100678	chr5:103823501-103823502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536815266	chr5:103823505-103823506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548820695	chr5:103823520-103823521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192885373	chr5:103823545-103823546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103820400-103830600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:103827400-103827800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:103827800-103828200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:103828000-103828200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:103828200-103828400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:103828200-103828400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:103828200-103828800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:103828400-103829600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:103828400-103830000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr5:103828800-103830800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:103828800-103831000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr5:103829200-103829600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:103829200-103831000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:103829400-103830800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:103829400-103831000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:103829600-103831000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:103829600-103834000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:103830000-103830200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:103830000-103830800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:103830200-103830600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:103830600-103830800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr5:103830600-103831000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:103833600-103834000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:103834000-103834400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:103834000-103834400	Enhancers	HUVEC	blood vessel
26	chr5:103834200-103834600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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