Variant report

Variant	nsv599172
Chromosome Location	chr5:99742364-99841999
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:13)
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	chr5:99840638..99843580-chr5:99851710..99854340,2	MCF-7	breast:
2	chr4:32147186..32148048-chr5:99775915..99776706,2	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	chr5:99814517..99815454-chr5:100725734..100726727,3	MCF-7	breast:
6	chr5:99813306..99815252-chr5:99818447..99820144,2	K562	blood:
7	chr5:99763910..99766552-chr5:99768110..99770337,2	MCF-7	breast:
8	chr5:99763910..99766552-chr5:99768110..99770337,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST8SIA4-3	chr5:99785458-99786801	ENSG00000247877
2	lnc-FAM174A-1	chr5:99742959-99743077	NONHSAT103000
3	lnc-FAM174A-1	chr5:99755954-99756151	NONHSAT103000
4	lnc-FAM174A-1	chr5:99742959-99743077	XLOC_004490
5	lnc-FAM174A-1	chr5:99755149-99755217	NONHSAT103000
6	lnc-FAM174A-1	chr5:99755149-99755217	XLOC_004490
7	lnc-FAM174A-1	chr5:99744503-99744603	XLOC_004490
8	lnc-ST8SIA4-3	chr5:99785458-99786801	NONHSAT103002
9	lnc-ST8SIA4-3	chr5:99792761-99792828	ENSG00000247877
10	lnc-FAM174A-1	chr5:99759095-99759158	NONHSAT103000
11	lnc-ST8SIA4-3	chr5:99786639-99786801	ENSG00000247877
12	lnc-FAM174A-1	chr5:99742959-99743077	XLOC_004490
13	lnc-FAM174A-1	chr5:99755954-99756452	XLOC_004490

No data

Variant related genes	Relation type
PDPK1	miRNA target sites
EIF2B1	miRNA target sites
RTN4	miRNA target sites
KIAA0430	miRNA target sites
TJAP1	miRNA target sites
RLF	miRNA target sites
FAM190B	miRNA target sites

Extended variants
information (count: 1730 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1730 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs898765	chr5:99742364-99742365	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561229202	chr5:99742367-99742368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549691475	chr5:99742405-99742406	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs567744843	chr5:99742409-99742410	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs373784485	chr5:99742442-99742443	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs546681784	chr5:99742443-99742444	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs142558541	chr5:99742444-99742445	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs531587259	chr5:99742456-99742457	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs192076152	chr5:99742461-99742462	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs137955917	chr5:99742468-99742469	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs538600162	chr5:99742522-99742523	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs556688154	chr5:99742531-99742532	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs556223274	chr5:99742582-99742583	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs115233540	chr5:99742584-99742585	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs367918997	chr5:99742595-99742596	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs183159575	chr5:99742596-99742597	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs187044871	chr5:99742637-99742638	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs111346555	chr5:99742643-99742644	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs559010798	chr5:99742666-99742667	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs141934638	chr5:99742695-99742696	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374194224	chr5:99742698-99742699	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs184130305	chr5:99742719-99742720	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs199737166	chr5:99742762-99742763	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs563524943	chr5:99742848-99742849	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530969838	chr5:99742860-99742861	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs369538621	chr5:99742884-99742885	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs542930890	chr5:99742889-99742890	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs189505640	chr5:99742895-99742896	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs528665045	chr5:99742912-99742913	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs532582577	chr5:99742913-99742914	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs547226472	chr5:99742914-99742915	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs116413703	chr5:99742932-99742933	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs532108670	chr5:99742970-99742971	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs150659842	chr5:99743004-99743005	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs7723188	chr5:99743017-99743018	Weak transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs138900877	chr5:99743046-99743047	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs554531234	chr5:99743072-99743073	Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs566437457	chr5:99743101-99743102	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7736588	chr5:99743140-99743141	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558328011	chr5:99743175-99743176	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs192494385	chr5:99743217-99743218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71652141	chr5:99743246-99743247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572315401	chr5:99743250-99743251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373230131	chr5:99743287-99743288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557456750	chr5:99743291-99743292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575523410	chr5:99743302-99743303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7723714	chr5:99743363-99743364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs185684722	chr5:99743365-99743366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7700295	chr5:99743372-99743373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189427683	chr5:99743373-99743374	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99741800-99743000	Enhancers	Fetal Lung	lung
2	chr5:99742200-99742600	Enhancers	Fetal Brain Male	brain
3	chr5:99742400-99743200	ZNF genes & repeats	Pancreas	Pancrea
4	chr5:99742600-99744000	Weak transcription	Fetal Brain Male	brain
5	chr5:99742800-99743200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
6	chr5:99743000-99744600	Weak transcription	Fetal Lung	lung
7	chr5:99744000-99745400	Enhancers	Fetal Brain Male	brain
8	chr5:99744600-99746000	Enhancers	Fetal Lung	lung
9	chr5:99744800-99745400	Enhancers	Brain Germinal Matrix	brain
10	chr5:99745400-99745800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:99745400-99745800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:99745400-99745800	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr5:99745400-99745800	Flanking Active TSS	Fetal Brain Male	brain
14	chr5:99745600-99746000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:99745800-99746000	Enhancers	Brain Germinal Matrix	brain
16	chr5:99745800-99747200	Enhancers	Fetal Brain Male	brain
17	chr5:99746000-99753200	Weak transcription	Fetal Lung	lung
18	chr5:99753200-99753400	Enhancers	Fetal Lung	lung
19	chr5:99753400-99760000	Weak transcription	Fetal Lung	lung
20	chr5:99753800-99765000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:99754000-99754200	Enhancers	Brain Germinal Matrix	brain
22	chr5:99754200-99756400	Weak transcription	Brain Germinal Matrix	brain
23	chr5:99754400-99755600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:99755600-99756400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:99758200-99758400	Enhancers	HSMM	muscle
26	chr5:99758200-99759200	Enhancers	HSMMtube	muscle
27	chr5:99758600-99759000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:99758800-99759200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:99759000-99759200	Enhancers	HSMM	muscle
30	chr5:99759000-99759600	Enhancers	Hela-S3	cervix
31	chr5:99759000-99759600	Enhancers	HUVEC	blood vessel
32	chr5:99759000-99760200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:99759600-99760000	Weak transcription	Hela-S3	cervix
34	chr5:99759600-99760000	Weak transcription	HUVEC	blood vessel
35	chr5:99760000-99760400	Enhancers	Hela-S3	cervix
36	chr5:99760000-99760400	Enhancers	HUVEC	blood vessel
37	chr5:99760000-99761000	ZNF genes & repeats	Fetal Lung	lung
38	chr5:99760000-99761600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr5:99760200-99760600	ZNF genes & repeats	Fetal Kidney	kidney
40	chr5:99760200-99761400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:99761600-99762200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr5:99762200-99762400	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr5:99766200-99767000	Enhancers	Fetal Lung	lung
44	chr5:99766200-99767400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr5:99767400-99769000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr5:99769000-99770800	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr5:99770400-99770800	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr5:99770400-99770800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr5:99776400-99776800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr5:99782600-99786400	Enhancers	Fetal Lung	lung

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