Variant report

Variant	nsv1021719
Chromosome Location	chr5:104205018-104243206
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
2	chr5:104226367..104227906-chr5:104228376..104230821,2	MCF-7	breast:
3	chr5:104226367..104227906-chr5:104228376..104230821,2	MCF-7	breast:
4	chr5:104227529..104229773-chr5:104240979..104242491,2	MCF-7	breast:
5	chr5:104234931..104236476-chr5:104238248..104241105,2	MCF-7	breast:
6	chr5:104234931..104236476-chr5:104238248..104241105,2	MCF-7	breast:
7	chr5:104223049..104225474-chr5:104235768..104238593,2	MCF-7	breast:
8	chr5:104239889..104241844-chr5:104241951..104244541,2	MCF-7	breast:
9	chr5:104227529..104229773-chr5:104240979..104242491,2	MCF-7	breast:
10	chr5:104223049..104225474-chr5:104235768..104238593,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NUDT12-6	chr5:104222559-104222676	ENSG00000251574
2	lnc-NUDT12-6	chr5:104222559-104222676	ENSG00000251574

No data

Extended variants
information (count: 414 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533094124	chr5:104222409-104222410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533511406	chr5:104222465-104222466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3106500	chr5:104222478-104222479	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs550387403	chr5:104222516-104222517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570308202	chr5:104222547-104222548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189359142	chr5:104222574-104222575	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs549613645	chr5:104222589-104222590	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs150366844	chr5:104222602-104222603	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs191088802	chr5:104222615-104222616	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs560588023	chr5:104222629-104222630	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs184449595	chr5:104222635-104222636	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs557757699	chr5:104222669-104222670	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs562128234	chr5:104222670-104222671	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs35564471	chr5:104222679-104222680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571394139	chr5:104222689-104222690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111355893	chr5:104222693-104222694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537192083	chr5:104222696-104222697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13169910	chr5:104222709-104222710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555940115	chr5:104222718-104222719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13169913	chr5:104222725-104222726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189328320	chr5:104222728-104222729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147825964	chr5:104222737-104222738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541673126	chr5:104222742-104222743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs5870132	chr5:104222817-104222818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79430236	chr5:104222819-104222820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200127418	chr5:104222820-104222821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550444408	chr5:104222845-104222846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377205994	chr5:104222893-104222894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555605728	chr5:104222915-104222916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181232501	chr5:104222933-104222934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555363735	chr5:104222940-104222941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564111156	chr5:104223040-104223041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572569711	chr5:104223070-104223071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533056702	chr5:104223115-104223116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371818897	chr5:104223164-104223165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1513652	chr5:104223183-104223184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186485773	chr5:104223205-104223206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188966982	chr5:104223287-104223288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373258224	chr5:104223310-104223311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539182023	chr5:104223355-104223356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116468341	chr5:104223365-104223366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10051306	chr5:104223441-104223442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574743121	chr5:104223462-104223463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1217465	chr5:104223498-104223499	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141013876	chr5:104223522-104223523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551354851	chr5:104223524-104223525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34471805	chr5:104223525-104223526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571357573	chr5:104223535-104223536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs67138839	chr5:104223553-104223554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs573648853	chr5:104223580-104223581	Weak transcription	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
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
Schizophrenia	21346763	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:104222400-104222600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:104222400-104222800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:104222800-104223800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:104223600-104224200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:104223800-104224200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:104223800-104224200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:104223800-104224200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:104223800-104224200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:104223800-104224200	Enhancers	Brain Substantia Nigra	brain
10	chr5:104234400-104235200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr5:104235800-104236400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:104235800-104236600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:104236000-104236400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:104236000-104236600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:104236000-104237800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:104236200-104236800	Enhancers	Brain Anterior Caudate	brain
17	chr5:104236200-104237000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:104237800-104245400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:104239600-104240600	Enhancers	A549	lung
20	chr5:104240200-104240800	Enhancers	HepG2	liver
21	chr5:104243000-104243200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:104243200-104245400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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