Variant report

Variant	nsv1016619
Chromosome Location	chr5:99747751-99843411
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:8)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:99763910..99766552-chr5:99768110..99770337,2	MCF-7	breast:
2	chr5:99840638..99843580-chr5:99851710..99854340,2	MCF-7	breast:
3	chr5:99813306..99815252-chr5:99818447..99820144,2	K562	blood:
4	chr5:99814495..99815041-chr5:100726099..100726630,2	MCF-7	breast:
5	chr4:32147186..32148048-chr5:99775915..99776706,2	MCF-7	breast:
6	chr5:99814517..99815454-chr5:100725734..100726727,3	MCF-7	breast:
7	chr5:99763910..99766552-chr5:99768110..99770337,2	MCF-7	breast:
8	chr5:99813306..99815252-chr5:99818447..99820144,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM174A-1	chr5:99755954-99756452	XLOC_004490
2	lnc-FAM174A-1	chr5:99755149-99755217	XLOC_004490
3	lnc-ST8SIA4-3	chr5:99785458-99786801	ENSG00000247877
4	lnc-FAM174A-1	chr5:99755149-99755217	NONHSAT103000
5	lnc-ST8SIA4-3	chr5:99785458-99786801	NONHSAT103002
6	lnc-FAM174A-1	chr5:99755954-99756151	NONHSAT103000
7	lnc-FAM174A-1	chr5:99759095-99759158	NONHSAT103000
8	lnc-ST8SIA4-3	chr5:99792761-99792828	ENSG00000247877
9	lnc-ST8SIA4-3	chr5:99786639-99786801	ENSG00000247877

No data

Variant related genes	Relation type
FAM190B	miRNA target sites
RLF	miRNA target sites
TJAP1	miRNA target sites
EIF2B1	miRNA target sites

Extended variants
information (count: 1541 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1541 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148661564	chr5:99747782-99747783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573789648	chr5:99747844-99747845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541175732	chr5:99747859-99747860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559468353	chr5:99747861-99747862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577997276	chr5:99747862-99747863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186526091	chr5:99747905-99747906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564030760	chr5:99747922-99747923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563471232	chr5:99747932-99747933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531081131	chr5:99747958-99747959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369710788	chr5:99747960-99747961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549607163	chr5:99748011-99748012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367747814	chr5:99748084-99748085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531008712	chr5:99748092-99748093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189732583	chr5:99748113-99748114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546743920	chr5:99748126-99748127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552398372	chr5:99748144-99748145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564352198	chr5:99748166-99748167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76220902	chr5:99748230-99748231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569144315	chr5:99748249-99748250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536189683	chr5:99748305-99748306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146750253	chr5:99748318-99748319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139382200	chr5:99748335-99748336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534778902	chr5:99748372-99748373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553449618	chr5:99748401-99748402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547285950	chr5:99748412-99748413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577929948	chr5:99748465-99748466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373619242	chr5:99748491-99748492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116093555	chr5:99748531-99748532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74778350	chr5:99748670-99748671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12514181	chr5:99748727-99748728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536271383	chr5:99748750-99748751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144158637	chr5:99748761-99748762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543387774	chr5:99748799-99748800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561443546	chr5:99748853-99748854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373659084	chr5:99748858-99748859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569806815	chr5:99748923-99748924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528728580	chr5:99748964-99748965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59326642	chr5:99748987-99748988	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565009821	chr5:99749102-99749103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146410756	chr5:99749126-99749127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369437224	chr5:99749129-99749130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550544085	chr5:99749270-99749271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568561757	chr5:99749278-99749279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536121618	chr5:99749294-99749295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117510488	chr5:99749310-99749311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373506602	chr5:99749351-99749352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566297018	chr5:99749415-99749416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75963557	chr5:99749434-99749435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533761446	chr5:99749492-99749493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553146095	chr5:99749530-99749531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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	21030649	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99746000-99753200	Weak transcription	Fetal Lung	lung
2	chr5:99753200-99753400	Enhancers	Fetal Lung	lung
3	chr5:99753400-99760000	Weak transcription	Fetal Lung	lung
4	chr5:99753800-99765000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:99754000-99754200	Enhancers	Brain Germinal Matrix	brain
6	chr5:99754200-99756400	Weak transcription	Brain Germinal Matrix	brain
7	chr5:99754400-99755600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:99755600-99756400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:99758200-99758400	Enhancers	HSMM	muscle
10	chr5:99758200-99759200	Enhancers	HSMMtube	muscle
11	chr5:99758600-99759000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:99758800-99759200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:99759000-99759200	Enhancers	HSMM	muscle
14	chr5:99759000-99759600	Enhancers	Hela-S3	cervix
15	chr5:99759000-99759600	Enhancers	HUVEC	blood vessel
16	chr5:99759000-99760200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr5:99759600-99760000	Weak transcription	Hela-S3	cervix
18	chr5:99759600-99760000	Weak transcription	HUVEC	blood vessel
19	chr5:99760000-99760400	Enhancers	Hela-S3	cervix
20	chr5:99760000-99760400	Enhancers	HUVEC	blood vessel
21	chr5:99760000-99761000	ZNF genes & repeats	Fetal Lung	lung
22	chr5:99760000-99761600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
23	chr5:99760200-99760600	ZNF genes & repeats	Fetal Kidney	kidney
24	chr5:99760200-99761400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:99761600-99762200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:99762200-99762400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr5:99766200-99767000	Enhancers	Fetal Lung	lung
28	chr5:99766200-99767400	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr5:99767400-99769000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:99769000-99770800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr5:99770400-99770800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:99770400-99770800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:99776400-99776800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr5:99782600-99786400	Enhancers	Fetal Lung	lung
35	chr5:99783800-99784400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr5:99783800-99784600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr5:99790200-99790800	Enhancers	HUVEC	blood vessel
38	chr5:99799600-99800000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:99800000-99800600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:99800000-99800600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:99800000-99800600	Enhancers	Osteobl	bone
42	chr5:99800600-99801000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:99805400-99805800	Enhancers	Dnd41	blood
44	chr5:99821000-99821800	Enhancers	Fetal Lung	lung
45	chr5:99824200-99824600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:99829800-99830200	Enhancers	Fetal Lung	lung
47	chr5:99830200-99830600	Weak transcription	Fetal Lung	lung
48	chr5:99830600-99830800	Enhancers	Fetal Lung	lung
49	chr5:99830800-99832000	Weak transcription	Fetal Lung	lung
50	chr5:99832200-99832400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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