Variant report

Variant	esv2754074
Chromosome Location	chr5:99766501-99815101
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:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:99763910..99766552-chr5:99768110..99770337,2	MCF-7	breast:
2	chr4:32147186..32148048-chr5:99775915..99776706,2	MCF-7	breast:
3	chr5:99814517..99815454-chr5:100725734..100726727,3	MCF-7	breast:
4	chr5:99813306..99815252-chr5:99818447..99820144,2	K562	blood:
5	chr5:99814495..99815041-chr5:100726099..100726630,2	MCF-7	breast:
6	chr5:99763910..99766552-chr5:99768110..99770337,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST8SIA4-3	chr5:99786639-99786801	ENSG00000247877
2	lnc-ST8SIA4-3	chr5:99785458-99786801	NONHSAT103002
3	lnc-ST8SIA4-3	chr5:99785458-99786801	ENSG00000247877
4	lnc-ST8SIA4-3	chr5:99792761-99792828	ENSG00000247877

No data

Variant related genes	Relation type
EIF2B1	miRNA target sites
RLF	miRNA target sites

Extended variants
information (count: 389 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:389 , 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	rs1461635	chr5:99766510-99766511	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574877792	chr5:99766525-99766526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542205250	chr5:99766541-99766542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142973882	chr5:99766571-99766572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527966458	chr5:99766594-99766595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146648010	chr5:99766605-99766606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200925729	chr5:99766622-99766623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181371652	chr5:99766696-99766697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs200969485	chr5:99766749-99766750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141204644	chr5:99766856-99766857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114677116	chr5:99766879-99766880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568134992	chr5:99766924-99766925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79814279	chr5:99766998-99766999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183622098	chr5:99767028-99767029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372812860	chr5:99767043-99767044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565712189	chr5:99767125-99767126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs77764258	chr5:99767193-99767194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188242517	chr5:99767249-99767250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576116283	chr5:99767337-99767338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62389084	chr5:99767354-99767355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537241402	chr5:99767368-99767369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62389085	chr5:99767371-99767372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578128009	chr5:99767375-99767376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181059111	chr5:99767476-99767477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555321083	chr5:99767533-99767534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145017782	chr5:99767576-99767577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541957106	chr5:99767627-99767628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560082984	chr5:99767639-99767640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375049292	chr5:99767716-99767717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554205841	chr5:99767749-99767750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572132426	chr5:99767797-99767798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572791880	chr5:99767803-99767804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186365344	chr5:99767813-99767814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138820717	chr5:99767815-99767816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377540353	chr5:99767844-99767845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531949582	chr5:99767909-99767910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61099383	chr5:99767947-99767948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs192434717	chr5:99767964-99767965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181521958	chr5:99767989-99767990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59135383	chr5:99768079-99768080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs376895031	chr5:99768135-99768136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547530159	chr5:99768136-99768137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565650874	chr5:99768142-99768143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140570893	chr5:99768158-99768159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569498932	chr5:99768159-99768160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551436888	chr5:99768162-99768163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569930125	chr5:99768187-99768188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187051105	chr5:99768231-99768232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539885718	chr5:99768245-99768246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567366371	chr5:99768255-99768256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99766200-99767000	Enhancers	Fetal Lung	lung
2	chr5:99766200-99767400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr5:99767400-99769000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr5:99769000-99770800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr5:99770400-99770800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:99770400-99770800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr5:99776400-99776800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:99782600-99786400	Enhancers	Fetal Lung	lung
9	chr5:99783800-99784400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:99783800-99784600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:99790200-99790800	Enhancers	HUVEC	blood vessel
12	chr5:99799600-99800000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:99800000-99800600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:99800000-99800600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:99800000-99800600	Enhancers	Osteobl	bone
16	chr5:99800600-99801000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:99805400-99805800	Enhancers	Dnd41	blood

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