Variant report

Variant	nsv882808
Chromosome Location	chr5:120776767-120818132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:120816268..120817790-chr5:120825536..120828254,2	K562	blood:
2	chr5:120785380..120788010-chr5:120790362..120792575,2	K562	blood:
3	chr5:120810139..120812318-chr5:120820921..120823113,2	K562	blood:
4	chr5:120785380..120788010-chr5:120790362..120792575,2	K562	blood:

Extended variants
information (count: 579 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573369685	chr5:120778819-120778820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372259176	chr5:120778820-120778821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550810526	chr5:120778862-120778863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75413030	chr5:120778931-120778932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534384912	chr5:120778935-120778936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138090892	chr5:120778968-120778969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548540085	chr5:120778981-120778982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567150322	chr5:120778986-120778987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190396029	chr5:120779002-120779003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534874580	chr5:120779018-120779019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555607342	chr5:120779022-120779023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115324778	chr5:120779024-120779025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376833924	chr5:120779055-120779056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571563840	chr5:120779120-120779121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149526477	chr5:120779139-120779140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4276439	chr5:120779154-120779155	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557226551	chr5:120779163-120779164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182639421	chr5:120779182-120779183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375739995	chr5:120779185-120779186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9327192	chr5:120779187-120779188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554903517	chr5:120779191-120779192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372755493	chr5:120779194-120779195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10603171	chr5:120779195-120779196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35490982	chr5:120779196-120779197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186438361	chr5:120779218-120779219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376251520	chr5:120779225-120779226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540666346	chr5:120779228-120779229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558987229	chr5:120779252-120779253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144136628	chr5:120779259-120779260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56398339	chr5:120779265-120779266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139826370	chr5:120779302-120779303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78592102	chr5:120779308-120779309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530475480	chr5:120779309-120779310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7721282	chr5:120779343-120779344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77223845	chr5:120779385-120779386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578051235	chr5:120779418-120779419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528070938	chr5:120779429-120779430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546602189	chr5:120779430-120779431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571434088	chr5:120779458-120779459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11957432	chr5:120779463-120779464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs113932380	chr5:120779494-120779495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550768512	chr5:120779514-120779515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs996957	chr5:120779543-120779544	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs116350693	chr5:120779558-120779559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527522710	chr5:120779573-120779574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190937430	chr5:120779597-120779598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567004888	chr5:120779609-120779610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146217063	chr5:120779639-120779640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558947345	chr5:120779649-120779650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201367430	chr5:120779656-120779657	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120778800-120781200	Enhancers	Dnd41	blood
2	chr5:120794600-120794800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:120794800-120796800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:120796800-120797000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:120797000-120797600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:120797600-120799200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:120811600-120812000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:120812000-120813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:120813000-120814000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:120813000-120815600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:120813200-120814400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:120813400-120813800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:120813400-120814200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:120813400-120815600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:120813600-120815400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:120813600-120815800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:120813800-120814600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:120814000-120814200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr5:120814200-120814400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr5:120814200-120814600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr5:120814400-120814600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:120814400-120814800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:120814400-120815000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr5:120814600-120814800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr5:120814600-120815000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr5:120814600-120815400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:120814800-120815400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:120814800-120815800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr5:120815000-120815200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:120815000-120816000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:120815600-120816600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr5:120816000-120818000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:120816600-120816800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr5:120818000-120818400	Enhancers	HUES64 Cell Line	embryonic stem cell

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