Variant report

Variant	nsv830433
Chromosome Location	chr5:103862974-103983492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103897573..103899944-chr5:103901473..103904077,2	K562	blood:
2	chr5:103950660..103952781-chr5:103982477..103984816,2	MCF-7	breast:
3	chr5:103876372..103877993-chr5:103878021..103880311,2	MCF-7	breast:
4	chr5:103909538..103911101-chr5:103914099..103915788,2	K562	blood:
5	chr10:123096692..123097195-chr5:103919780..103920280,2	MCF-7	breast:
6	chr5:103955211..103956753-chr5:103960969..103962805,2	MCF-7	breast:
7	chr5:103950660..103952781-chr5:103982477..103984816,2	MCF-7	breast:
8	chr5:103876372..103877993-chr5:103878021..103880311,2	MCF-7	breast:
9	chr5:103955211..103956753-chr5:103960969..103962805,2	MCF-7	breast:
10	chr5:103875480..103877892-chr5:103901637..103904578,2	MCF-7	breast:
11	chr5:103982040..103982621-chr5:104952113..104952873,2	MCF-7	breast:
12	chr5:103959799..103963456-chr5:103964708..103968737,3	MCF-7	breast:
13	chr5:103870028..103872324-chr5:103876211..103878199,2	MCF-7	breast:
14	chr5:103897573..103899944-chr5:103901473..103904077,2	K562	blood:
15	chr5:103870028..103872324-chr5:103876211..103878199,2	MCF-7	breast:
16	chr5:103875480..103877892-chr5:103901637..103904578,2	MCF-7	breast:
17	chr5:103909538..103911101-chr5:103914099..103915788,2	K562	blood:
18	chr5:103959799..103963456-chr5:103964708..103968737,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-5	chr5:103966088-103966357	ENSG00000251574
2	lnc-NUDT12-5	chr5:103966237-103966357	ENSG00000251574

No data

Extended variants
information (count: 1838 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1838 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534493938	chr5:103864632-103864633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182337502	chr5:103864674-103864675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34781183	chr5:103864704-103864705	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543707444	chr5:103864730-103864731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79121940	chr5:103864735-103864736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573294902	chr5:103864737-103864738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569583659	chr5:103864797-103864798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542250868	chr5:103864806-103864807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559004142	chr5:103864858-103864859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186648803	chr5:103864884-103864885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545237642	chr5:103864887-103864888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565484439	chr5:103864908-103864909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538424088	chr5:103864914-103864915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76612617	chr5:103864937-103864938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143152130	chr5:103864956-103864957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377650	chr5:103865024-103865025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150397961	chr5:103865096-103865097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530099625	chr5:103865099-103865100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547042872	chr5:103865131-103865132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566940307	chr5:103865132-103865133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138164133	chr5:103865162-103865163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4345293	chr5:103865167-103865168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192158033	chr5:103865171-103865172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536891907	chr5:103865197-103865198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556823538	chr5:103865240-103865241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149316080	chr5:103865286-103865287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144623469	chr5:103865306-103865307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375138427	chr5:103865310-103865311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552564947	chr5:103865348-103865349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185731099	chr5:103865358-103865359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7715041	chr5:103865359-103865360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs73778056	chr5:103865374-103865375	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575783714	chr5:103865403-103865404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544852667	chr5:103865414-103865415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541441407	chr5:103865459-103865460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144256302	chr5:103865517-103865518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571006611	chr5:103865551-103865552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530437252	chr5:103865610-103865611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373419500	chr5:103865611-103865612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560544678	chr5:103865662-103865663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377422955	chr5:103865663-103865664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144468225	chr5:103865683-103865684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532451201	chr5:103865715-103865716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190256741	chr5:103865736-103865737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552634094	chr5:103865739-103865740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569289574	chr5:103865740-103865741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536830043	chr5:103865753-103865754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs193174189	chr5:103865768-103865769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370241981	chr5:103865881-103865882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373084761	chr5:103865887-103865888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	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
Myelofibrosis	22110671	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
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103864600-103864800	Enhancers	Colon Smooth Muscle	Colon
2	chr5:103864800-103868800	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:103866200-103866400	Enhancers	Rectal Smooth Muscle	rectum
4	chr5:103868600-103869400	Enhancers	Fetal Lung	lung
5	chr5:103868600-103869800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:103868800-103869600	Enhancers	Colon Smooth Muscle	Colon
7	chr5:103868800-103871000	Weak transcription	Ovary	ovary
8	chr5:103869000-103869200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:103869200-103869400	Enhancers	Rectal Smooth Muscle	rectum
10	chr5:103869400-103871800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:103869400-103874200	Weak transcription	Fetal Lung	lung
12	chr5:103869600-103876000	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:103871000-103872000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr5:103871400-103872000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:103871800-103872200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:103871800-103872200	Enhancers	Rectal Smooth Muscle	rectum
17	chr5:103872000-103876200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:103872200-103875800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr5:103874200-103875200	Enhancers	Fetal Lung	lung
20	chr5:103874600-103876600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:103874800-103877400	Enhancers	Fetal Stomach	stomach
22	chr5:103875200-103876400	Weak transcription	Fetal Lung	lung
23	chr5:103875200-103877200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:103875400-103877600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:103875800-103876800	Enhancers	HUVEC	blood vessel
26	chr5:103875800-103877200	Enhancers	Hela-S3	cervix
27	chr5:103875800-103877400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr5:103875800-103878400	Enhancers	Rectal Smooth Muscle	rectum
29	chr5:103876000-103878600	Enhancers	Colon Smooth Muscle	Colon
30	chr5:103876200-103876800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr5:103876400-103876800	Enhancers	Adipose Nuclei	Adipose
32	chr5:103876400-103877000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:103876400-103877000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:103876400-103877400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr5:103876400-103877400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr5:103876400-103877600	Enhancers	Fetal Lung	lung
37	chr5:103877000-103877400	Enhancers	Ovary	ovary
38	chr5:103878000-103878400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:103885800-103886400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:103886000-103886400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:103892400-103892600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:103892400-103892800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr5:103901400-103902200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr5:103905400-103906000	Enhancers	Ovary	ovary
45	chr5:103905400-103906200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:103905600-103905800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:103906000-103906400	Weak transcription	Ovary	ovary
48	chr5:103906000-103906800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:103906000-103907200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:103906200-103907200	Enhancers	HUES48 Cell Line	embryonic stem cell

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