Variant report

Variant	nsv1018938
Chromosome Location	chr5:113080567-113185361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:113014588..113015273-chr5:113139880..113140620,2	MCF-7	breast:
2	chr5:113017961..113018794-chr5:113092959..113093884,2	MCF-7	breast:
3	chr5:113148118..113150483-chr5:113151367..113153040,2	K562	blood:
4	chr5:113017877..113018838-chr5:113139684..113140688,6	MCF-7	breast:
5	chr5:113148118..113150483-chr5:113151367..113153040,2	K562	blood:
6	chr5:113017956..113018778-chr5:113092950..113093675,3	MCF-7	breast:

Extended variants
information (count: 2160 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2160 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4235751	chr5:113080567-113080568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10574150	chr5:113080590-113080591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs202247069	chr5:113080593-113080594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34066610	chr5:113080594-113080595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs398109310	chr5:113080603-113080604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529155222	chr5:113080640-113080641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76561392	chr5:113080645-113080646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562334396	chr5:113080670-113080671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533004151	chr5:113080746-113080747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551449049	chr5:113080848-113080849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566581016	chr5:113080913-113080914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55664486	chr5:113080918-113080919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115166109	chr5:113080976-113080977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565676139	chr5:113081017-113081018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376996116	chr5:113081097-113081098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529790617	chr5:113081112-113081113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183868174	chr5:113081115-113081116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573314790	chr5:113081152-113081153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138932085	chr5:113081186-113081187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149255774	chr5:113081243-113081244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35143433	chr5:113081255-113081256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539460458	chr5:113081262-113081263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146185680	chr5:113081276-113081277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573023459	chr5:113081286-113081287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188549271	chr5:113081293-113081294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555258064	chr5:113081334-113081335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73250355	chr5:113081352-113081353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs13159664	chr5:113081443-113081444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs201375565	chr5:113081444-113081445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555013604	chr5:113081471-113081472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545035006	chr5:113081474-113081475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181340316	chr5:113081492-113081493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140150231	chr5:113081509-113081510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560258036	chr5:113081510-113081511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527357090	chr5:113081531-113081532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367679764	chr5:113081553-113081554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115941519	chr5:113081558-113081559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568559198	chr5:113081595-113081596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546226044	chr5:113081634-113081635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60747452	chr5:113081648-113081649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61710806	chr5:113081653-113081654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529495945	chr5:113081670-113081671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550954976	chr5:113081673-113081674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186757207	chr5:113081675-113081676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190358264	chr5:113081700-113081701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13178048	chr5:113081729-113081730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566561729	chr5:113081766-113081767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369959916	chr5:113081794-113081795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77897748	chr5:113081820-113081821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555874616	chr5:113081825-113081826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113079800-113083600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:113083600-113084200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:113083600-113085000	Enhancers	HUVEC	blood vessel
4	chr5:113083800-113085400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:113083800-113085400	Enhancers	NHEK	skin
6	chr5:113084000-113085200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:113084800-113085800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:113085000-113085400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:113085000-113086400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:113085200-113085600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:113085200-113085600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:113085400-113086600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:113085600-113086600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:113085600-113086800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:113086600-113086800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:113086600-113086800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:113086800-113087000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:113090800-113092200	Enhancers	Fetal Lung	lung
19	chr5:113091200-113091400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:113094800-113096000	Enhancers	GM12878-XiMat	blood
21	chr5:113095800-113096400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:113095800-113096600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:113095800-113097200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:113096000-113096400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:113096000-113096400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:113096000-113096800	Weak transcription	GM12878-XiMat	blood
27	chr5:113096200-113096800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:113096800-113097800	Enhancers	GM12878-XiMat	blood
29	chr5:113097200-113097600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:113097200-113097800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:113097800-113098000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:113099800-113111800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:113102200-113102600	ZNF genes & repeats	Liver	Liver
34	chr5:113106200-113106600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:113106200-113106800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:113106200-113107000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:113106200-113107400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr5:113106400-113106600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:113106400-113106600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:113106400-113107600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:113106600-113106800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr5:113106800-113111400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr5:113106800-113111400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr5:113107000-113111600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr5:113107200-113107400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:113107200-113107600	Enhancers	Ovary	ovary
47	chr5:113107400-113109600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:113109600-113110000	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr5:113110000-113111400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:113111200-113112600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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