Variant report

Variant	nsv1015781
Chromosome Location	chr5:106113798-106147082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:106131520..106133910-chr5:106135475..106137782,2	MCF-7	breast:
2	chr5:106113493..106115491-chr5:106132534..106134120,2	MCF-7	breast:
3	chr5:106131520..106133910-chr5:106135475..106137782,2	MCF-7	breast:
4	chr5:106113493..106115491-chr5:106132534..106134120,2	MCF-7	breast:

Extended variants
information (count: 354 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553162784	chr5:106115206-106115207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573387579	chr5:106115229-106115230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191399799	chr5:106115237-106115238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115252948	chr5:106115262-106115263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576003776	chr5:106115278-106115279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544250395	chr5:106115281-106115282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374873825	chr5:106115293-106115294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560920656	chr5:106115319-106115320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183723181	chr5:106115331-106115332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540328486	chr5:106115353-106115354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11948024	chr5:106115399-106115400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539681751	chr5:106115420-106115421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566085904	chr5:106115470-106115471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188642788	chr5:106115528-106115529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548863492	chr5:106115574-106115575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568841976	chr5:106115575-106115576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77704470	chr5:106115615-106115616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192588160	chr5:106115641-106115642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548151666	chr5:106115659-106115660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567671638	chr5:106115676-106115677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536205203	chr5:106115734-106115735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553439695	chr5:106115769-106115770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566960659	chr5:106115836-106115837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182195098	chr5:106115896-106115897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538110352	chr5:106115905-106115906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576039790	chr5:106115918-106115919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544935245	chr5:106115923-106115924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186929968	chr5:106115928-106115929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574386781	chr5:106115953-106115954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191768253	chr5:106115974-106115975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143942252	chr5:106116013-106116014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73777122	chr5:106116033-106116034	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184556223	chr5:106116066-106116067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377017799	chr5:106116069-106116070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73200377	chr5:106116080-106116081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189880798	chr5:106116092-106116093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7720823	chr5:106116110-106116111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112510273	chr5:106116112-106116113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530148434	chr5:106116116-106116117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117647825	chr5:106116122-106116123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566997373	chr5:106116129-106116130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6596705	chr5:106116159-106116160	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs148416592	chr5:106116168-106116169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80330218	chr5:106116218-106116219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13156926	chr5:106116276-106116277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73200379	chr5:106116294-106116295	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555285405	chr5:106116316-106116317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146364349	chr5:106116380-106116381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139654038	chr5:106116381-106116382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142929667	chr5:106116409-106116410	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106115200-106116600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:106115600-106115800	Enhancers	Placenta	Placenta
3	chr5:106115600-106116600	Enhancers	Placenta Amnion	Placenta Amnion
4	chr5:106116400-106116600	Enhancers	Placenta	Placenta
5	chr5:106122400-106123200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:106122600-106123000	Enhancers	H9 Cell Line	embryonic stem cell
7	chr5:106122600-106123400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:106131800-106132200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr5:106131800-106132200	Enhancers	Fetal Lung	lung
10	chr5:106133200-106134200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:106133400-106133600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:106133400-106134200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:106133400-106134200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr5:106133400-106134200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr5:106134200-106134400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:106134200-106135800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:106134200-106136200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:106135000-106135200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr5:106135200-106135800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:106135800-106136400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:106135800-106137800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr5:106136200-106136400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr5:106136200-106137000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:106136400-106137800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:106136600-106138200	Enhancers	Dnd41	blood
26	chr5:106136800-106137400	Enhancers	Primary hematopoietic stem cells	blood
27	chr5:106137000-106137200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:106137200-106137400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:106137400-106137600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:106137400-106137800	Enhancers	Primary T cells from cord blood	blood
31	chr5:106137600-106138200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:106144800-106145400	Enhancers	Brain Cingulate Gyrus	brain
33	chr5:106144800-106145400	Enhancers	Brain Hippocampus Middle	brain
34	chr5:106145000-106145400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:106145000-106145400	Enhancers	Brain Substantia Nigra	brain
36	chr5:106145000-106145800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:106145400-106145800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr5:106145800-106146200	Enhancers	Brain Cingulate Gyrus	brain

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