Variant report

Variant	nsv1018831
Chromosome Location	chr5:101055626-101092113
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:101078843..101080982-chr5:101098462..101100344,2	MCF-7	breast:
2	chr5:101053272..101055786-chr5:101055879..101057749,3	MCF-7	breast:
3	chr5:101053272..101055786-chr5:101055879..101057749,3	MCF-7	breast:

Extended variants
information (count: 282 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532341102	chr5:101055682-101055683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555484066	chr5:101055700-101055701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76846806	chr5:101055732-101055733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200852263	chr5:101055742-101055743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541318521	chr5:101055748-101055749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575135437	chr5:101055751-101055752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62386289	chr5:101055783-101055784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530092415	chr5:101055808-101055809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573261598	chr5:101055816-101055817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554518064	chr5:101055868-101055869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146227506	chr5:101055884-101055885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55642386	chr5:101055885-101055886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546201986	chr5:101055895-101055896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564289864	chr5:101055904-101055905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531716990	chr5:101055916-101055917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13158917	chr5:101055937-101055938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs74371333	chr5:101055958-101055959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529094292	chr5:101055962-101055963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371605544	chr5:101055966-101055967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547149015	chr5:101055968-101055969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77271828	chr5:101056032-101056033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533046756	chr5:101056044-101056045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551370522	chr5:101056086-101056087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79682003	chr5:101056089-101056090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186811035	chr5:101056095-101056096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530867641	chr5:101056192-101056193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555542986	chr5:101056206-101056207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552363820	chr5:101056241-101056242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142942217	chr5:101056242-101056243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536061918	chr5:101056253-101056254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371881524	chr5:101056264-101056265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190799448	chr5:101056327-101056328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562416351	chr5:101056350-101056351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183396278	chr5:101056406-101056407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546215416	chr5:101056418-101056419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372307363	chr5:101056450-101056451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558409460	chr5:101056473-101056474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576404878	chr5:101056531-101056532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188828153	chr5:101056570-101056571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543401478	chr5:101056614-101056615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561856556	chr5:101056626-101056627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565081173	chr5:101056643-101056644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193052901	chr5:101056758-101056759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529301321	chr5:101056770-101056771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540846513	chr5:101056800-101056801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559246386	chr5:101056818-101056819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533132529	chr5:101056819-101056820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571015899	chr5:101056848-101056849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375550841	chr5:101056853-101056854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530531020	chr5:101056854-101056855	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101055000-101058600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:101055200-101057800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:101055200-101057800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:101055200-101057800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:101055200-101057800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:101055400-101058000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:101055400-101058000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr5:101057800-101058200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:101057800-101058400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:101057800-101058600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:101057800-101058600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr5:101058000-101058400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr5:101058000-101058400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:101058000-101058600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:101058200-101059400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:101058400-101059600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:101058600-101059600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr5:101059400-101059600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr5:101059600-101059800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:101059600-101059800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr5:101064600-101064800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr5:101064800-101065400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:101064800-101065600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr5:101064800-101065800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:101081400-101082000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:101090800-101092200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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