Variant report

Variant	nsv964925
Chromosome Location	chr5:113171691-113185521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189835518	chr5:113180400-113180401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79948181	chr5:113180414-113180415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114201039	chr5:113180508-113180509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558903793	chr5:113180528-113180529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574133297	chr5:113180530-113180531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561265465	chr5:113180539-113180540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145247408	chr5:113180555-113180556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1351608	chr5:113180637-113180638	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1351607	chr5:113180653-113180654	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs530348862	chr5:113180695-113180696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550064809	chr5:113180785-113180786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542096374	chr5:113180827-113180828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374390742	chr5:113180830-113180831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73243066	chr5:113180852-113180853	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532851740	chr5:113180869-113180870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs137869152	chr5:113180912-113180913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563332930	chr5:113180917-113180918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566391478	chr5:113180927-113180928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536621344	chr5:113180929-113180930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548607298	chr5:113180966-113180967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570013876	chr5:113180968-113180969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181293216	chr5:113180994-113180995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530418378	chr5:113181017-113181018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13174900	chr5:113181034-113181035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534591961	chr5:113181060-113181061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184285077	chr5:113181083-113181084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574410706	chr5:113181102-113181103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541375937	chr5:113181206-113181207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563302508	chr5:113181260-113181261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530103190	chr5:113181281-113181282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4299731	chr5:113181289-113181290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528157326	chr5:113181315-113181316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144659413	chr5:113181320-113181321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111464541	chr5:113181328-113181329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540271646	chr5:113181390-113181391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs900306	chr5:113181396-113181397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568236998	chr5:113181468-113181469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75757604	chr5:113181482-113181483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560042463	chr5:113181519-113181520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs900305	chr5:113181521-113181522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372158607	chr5:113181567-113181568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530427289	chr5:113181598-113181599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112432652	chr5:113181617-113181618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556966013	chr5:113181642-113181643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548282984	chr5:113181646-113181647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377236000	chr5:113181710-113181711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570078548	chr5:113181729-113181730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567753711	chr5:113181760-113181761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149788243	chr5:113181761-113181762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570080880	chr5:113181778-113181779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113180400-113181000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr5:113180600-113181000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr5:113180600-113181000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:113181000-113182400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:113181000-113182400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:113182200-113183600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:113182400-113182600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:113182400-113183800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:113182800-113183200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:113182800-113183600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:113182800-113183600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:113182800-113183800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr5:113182800-113183800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:113183000-113183400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:113183000-113183400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:113183400-113183800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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