Variant report

Variant	nsv1021335
Chromosome Location	chr5:113599444-113659146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:113583124..113585707-chr5:113637136..113639363,2	K562	blood:
2	chr5:113436290..113437547-chr5:113640998..113641653,3	MCF-7	breast:
3	chr5:113589881..113591473-chr5:113600185..113602176,2	K562	blood:
4	chr5:113195360..113195959-chr5:113641044..113641978,2	MCF-7	breast:
5	chr5:113641115..113642109-chr5:113785335..113786404,3	MCF-7	breast:

Extended variants
information (count: 1213 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1213 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115709786	chr5:113599449-113599450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531198291	chr5:113599452-113599453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78605629	chr5:113599470-113599471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564483720	chr5:113599483-113599484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187300371	chr5:113599514-113599515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547105593	chr5:113599524-113599525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78247396	chr5:113599534-113599535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529105251	chr5:113599573-113599574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192409222	chr5:113599592-113599593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368129854	chr5:113599614-113599615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577401649	chr5:113599625-113599626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138234415	chr5:113599627-113599628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371618808	chr5:113599641-113599642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4618418	chr5:113599747-113599748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs566461391	chr5:113599767-113599768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533682398	chr5:113599791-113599792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535063321	chr5:113599796-113599797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567132689	chr5:113599818-113599819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368490907	chr5:113599823-113599824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4602617	chr5:113599844-113599845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557196378	chr5:113599856-113599857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554917835	chr5:113599906-113599907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575556789	chr5:113599907-113599908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552412081	chr5:113599910-113599911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142256189	chr5:113599911-113599912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13181596	chr5:113599943-113599944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs377489290	chr5:113599944-113599945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114651063	chr5:113599963-113599964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557511881	chr5:113599977-113599978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575875593	chr5:113600011-113600012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546471692	chr5:113600014-113600015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539431701	chr5:113600046-113600047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376369491	chr5:113600099-113600100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573199268	chr5:113600102-113600103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540586824	chr5:113600109-113600110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142153949	chr5:113600183-113600184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182508679	chr5:113600194-113600195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143145756	chr5:113600196-113600197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371971702	chr5:113600229-113600230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77192412	chr5:113600238-113600239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186789579	chr5:113600285-113600286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562683831	chr5:113600300-113600301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6594806	chr5:113600344-113600345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551646556	chr5:113600347-113600348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148105719	chr5:113600352-113600353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566612400	chr5:113600374-113600375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191656808	chr5:113600416-113600417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548533697	chr5:113600421-113600422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182527524	chr5:113600426-113600427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573572944	chr5:113600448-113600449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113597600-113602000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:113600800-113601600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr5:113601000-113601600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:113601000-113601600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr5:113601000-113601600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:113601000-113602200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:113601200-113601600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:113601400-113601600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:113601400-113602200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:113601600-113603000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:113602000-113602400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:113602000-113602400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:113602200-113602600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:113602400-113603400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:113602400-113603600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:113603000-113603800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:113603600-113603800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:113603600-113604400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:113614000-113614400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:113614200-113614600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:113614200-113614600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr5:113631800-113633000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr5:113631800-113633200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:113633200-113633600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:113633600-113634200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:113634200-113640800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:113637200-113637400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:113637200-113637400	Enhancers	Psoas Muscle	Psoas
29	chr5:113637400-113643800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:113638200-113638800	Enhancers	Fetal Heart	heart
31	chr5:113638800-113641200	Weak transcription	Fetal Heart	heart
32	chr5:113640800-113641400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:113640800-113642000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:113641000-113641400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr5:113641000-113641400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr5:113641000-113641400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:113641000-113642000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:113641200-113641400	Enhancers	H9 Cell Line	embryonic stem cell
39	chr5:113641200-113641400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:113641200-113641400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:113641200-113641400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:113641200-113641400	Enhancers	Fetal Heart	heart
43	chr5:113641200-113641600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr5:113641200-113641800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr5:113641200-113642000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:113641400-113642800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:113641400-113642800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:113641400-113643000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr5:113641400-113643800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:113641400-113643800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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