Variant report

Variant	nsv599182
Chromosome Location	chr5:101019270-101090013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:101053272..101055786-chr5:101055879..101057749,3	MCF-7	breast:
2	chr5:101053272..101055786-chr5:101055879..101057749,3	MCF-7	breast:
3	chr5:100801149..100803807-chr5:101019076..101021697,2	K562	blood:
4	chr5:101013149..101015259-chr5:101019729..101021246,2	MCF-7	breast:
5	chr5:101078843..101080982-chr5:101098462..101100344,2	MCF-7	breast:
6	chr5:100950934..100952627-chr5:101023886..101026706,2	K562	blood:

Extended variants
information (count: 918 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12654056	chr5:101019270-101019271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527749955	chr5:101019271-101019272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528816794	chr5:101019281-101019282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556529545	chr5:101019304-101019305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546853987	chr5:101019305-101019306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56368861	chr5:101019315-101019316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs545548148	chr5:101019321-101019322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532325969	chr5:101019329-101019330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138848882	chr5:101019337-101019338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148951394	chr5:101019362-101019363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143146624	chr5:101019406-101019407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548120558	chr5:101019430-101019431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566627830	chr5:101019480-101019481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560553196	chr5:101019489-101019490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534104352	chr5:101019520-101019521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184157901	chr5:101019549-101019550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138648848	chr5:101019598-101019599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570475082	chr5:101019631-101019632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140001374	chr5:101019642-101019643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537878076	chr5:101019654-101019655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556118293	chr5:101019667-101019668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371504118	chr5:101019681-101019682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541892222	chr5:101019691-101019692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188322369	chr5:101019710-101019711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1871332	chr5:101019725-101019726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540527921	chr5:101019839-101019840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529316625	chr5:101019841-101019842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372151859	chr5:101019844-101019845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565197243	chr5:101019883-101019884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377070288	chr5:101019917-101019918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561281617	chr5:101019940-101019941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539219956	chr5:101019976-101019977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574034594	chr5:101019993-101019994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369452503	chr5:101020073-101020074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562886655	chr5:101020110-101020111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374949440	chr5:101020119-101020120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530154097	chr5:101020160-101020161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532043284	chr5:101020170-101020171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75947986	chr5:101020181-101020182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566554350	chr5:101020262-101020263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72038103	chr5:101020264-101020265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17257304	chr5:101020301-101020302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552388845	chr5:101020304-101020305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562188987	chr5:101020317-101020318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74574874	chr5:101020356-101020357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114684592	chr5:101020367-101020368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555918872	chr5:101020386-101020387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193046156	chr5:101020425-101020426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185267040	chr5:101020537-101020538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76912443	chr5:101020587-101020588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	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
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101014400-101021200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:101014400-101025200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:101014400-101037600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:101015000-101021800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:101016000-101022200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:101016200-101021600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:101016800-101022800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:101021200-101023600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:101021200-101023800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:101021400-101022200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:101021600-101022200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:101021800-101022200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:101021800-101022600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:101021800-101023200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:101021800-101023800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:101022000-101022600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:101022000-101023200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:101022200-101022600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr5:101022200-101022600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:101022200-101022600	Enhancers	Adipose Nuclei	Adipose
21	chr5:101022200-101022800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr5:101022200-101023400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:101022600-101023400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:101022600-101023600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:101022600-101024000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:101022600-101027600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:101022800-101023400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:101022800-101023600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:101023200-101024400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr5:101023200-101027000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:101023600-101024600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:101023600-101024800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:101023600-101024800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:101023800-101024200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:101023800-101024800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr5:101024200-101026600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:101024400-101025200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:101024600-101026400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr5:101024800-101025000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:101024800-101025400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:101025000-101026200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:101025200-101025400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr5:101025200-101026200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr5:101026600-101027400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:101027000-101027200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:101027400-101029400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:101027600-101028200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:101029400-101031000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:101030200-101030600	Active TSS	Gastric	stomach
50	chr5:101031000-101031200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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