Variant report

Variant	nsv599476
Chromosome Location	chr5:114445023-114475774
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:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114465952..114468354-chr5:114469870..114471606,2	K562	blood:
2	chr5:114446075..114448149-chr5:114477781..114479401,2	MCF-7	breast:
3	chr5:114447493..114449912-chr5:114504036..114505819,2	MCF-7	breast:
4	chr5:114465952..114468354-chr5:114469870..114471606,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TRIM36	hsa-miR-32-5p	chr5:114460514-114460535
2	TRIM36	hsa-miR-26b-5p	chr5:114461093-114461114

Variant related genes	Relation type
ENSG00000152503	chromatin interactions

Extended variants
information (count: 1361 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1361 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1446074	chr5:114445023-114445024	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185265614	chr5:114445043-114445044	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571169298	chr5:114445059-114445060	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143531977	chr5:114445103-114445104	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147130618	chr5:114445144-114445145	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571772038	chr5:114445180-114445181	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540748132	chr5:114445181-114445182	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548038685	chr5:114445201-114445202	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554280115	chr5:114445204-114445205	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189678225	chr5:114445249-114445250	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140276732	chr5:114445265-114445266	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563389356	chr5:114445276-114445277	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370226450	chr5:114445335-114445336	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182597161	chr5:114445338-114445339	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545845781	chr5:114445341-114445342	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373064909	chr5:114445379-114445380	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565601943	chr5:114445427-114445428	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374910048	chr5:114445428-114445429	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186414850	chr5:114445433-114445434	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536008076	chr5:114445464-114445465	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142080763	chr5:114445487-114445488	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73250057	chr5:114445501-114445502	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535923336	chr5:114445526-114445527	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150796224	chr5:114445530-114445531	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2974513	chr5:114445575-114445576	Flanking Active TSS Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs551154735	chr5:114445577-114445578	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114703021	chr5:114445581-114445582	Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537064052	chr5:114445606-114445607	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs558400366	chr5:114445626-114445627	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs115617742	chr5:114445627-114445628	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs551727058	chr5:114445632-114445633	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs565313198	chr5:114445663-114445664	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs534358633	chr5:114445672-114445673	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs73780049	chr5:114445688-114445689	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs574479250	chr5:114445702-114445703	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs536808500	chr5:114445714-114445715	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs2921616	chr5:114445737-114445738	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577037451	chr5:114445780-114445781	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs113005736	chr5:114445828-114445829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35901999	chr5:114445829-114445830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546099177	chr5:114445833-114445834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397972369	chr5:114445845-114445846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559717026	chr5:114445858-114445859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573263200	chr5:114446087-114446088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372758831	chr5:114446101-114446102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191254217	chr5:114446127-114446128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35508488	chr5:114446138-114446139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562115565	chr5:114446141-114446142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531043888	chr5:114446162-114446163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1867744	chr5:114446189-114446190	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114444600-114445200	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr5:114444600-114445400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr5:114444600-114445600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr5:114444600-114445800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:114444800-114445200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr5:114444800-114445400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:114444800-114445800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:114445000-114445400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:114445000-114445400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr5:114445000-114445800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr5:114445000-114445800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr5:114445200-114445800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:114445200-114445800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr5:114445400-114445600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr5:114445400-114445800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr5:114445400-114445800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr5:114445400-114445800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr5:114445600-114445800	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr5:114445800-114446000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:114445800-114446000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:114445800-114449200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:114446000-114446200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:114446000-114446600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:114446200-114447400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:114446600-114447000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:114447000-114447200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:114447200-114447600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:114449200-114449400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:114449200-114449600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr5:114452800-114453800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:114453800-114500600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:114458800-114465800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:114460000-114461800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:114460000-114476000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:114460200-114462000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:114460400-114460800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:114460400-114462200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:114460400-114465800	Weak transcription	Brain Germinal Matrix	brain
39	chr5:114460400-114470800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr5:114460400-114486800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr5:114460600-114460800	Active TSS	Aorta	Aorta
42	chr5:114460600-114462800	Weak transcription	Fetal Brain Female	brain
43	chr5:114460600-114464600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:114460600-114466000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:114460600-114468000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:114460800-114489200	Weak transcription	Aorta	Aorta
47	chr5:114461000-114489200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:114461800-114464600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:114461800-114467400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:114462000-114465000	Strong transcription	Duodenum Mucosa	Duodenum

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