Variant report

Variant	nsv969219
Chromosome Location	chr5:42147728-42169988
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:1)
LncRNA
region (count:46)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42164889..42166959-chr5:42173984..42175632,2	K562	blood:

(count:46 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OXCT1-1	chr5:42155935-42157513	NR_104636
2	lnc-OXCT1-1	chr5:42153753-42153776	XLOC_004800
3	lnc-OXCT1-1	chr5:42159129-42159155	NR_104636
4	lnc-OXCT1-1	chr5:42157044-42157540	XLOC_004800
5	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
6	lnc-FBXO4-1	chr5:42154408-42157540	NONHSAT101190
7	lnc-OXCT1-1	chr5:42153043-42153776	XLOC_004800
8	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
9	lnc-OXCT1-1	chr5:42168565-42168678	XLOC_004800
10	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
11	lnc-OXCT1-1	chr5:42168565-42168689	XLOC_004800
12	lnc-OXCT1-1	chr5:42157034-42157513	XLOC_004800
13	lnc-OXCT1-1	chr5:42157044-42157513	XLOC_004800
14	lnc-FBXO4-1	chr5:42159126-42159155	NONHSAT101190
15	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
16	lnc-FBXO4-1	chr5:42157823-42157966	NONHSAT101190
17	lnc-OXCT1-1	chr5:42154409-42157513	XLOC_004800
18	lnc-OXCT1-1	chr5:42159127-42159155	XLOC_004800
19	lnc-FBXO4-1	chr5:42159327-42159548	NONHSAT101190
20	lnc-OXCT1-1	chr5:42159129-42159155	XLOC_004800
21	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
22	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
23	lnc-OXCT1-1	chr5:42155935-42157513	NR_104635
24	lnc-OXCT1-1	chr5:42156651-42157513	XLOC_004800
25	lnc-OXCT1-1	chr5:42168565-42168689	XLOC_004800
26	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
27	lnc-FBXO4-1	chr5:42168564-42168689	NONHSAT101190
28	lnc-FBXO4-1	chr5:42157044-42157540	XLOC_004360
29	lnc-OXCT1-1	chr5:42157044-42157513	XLOC_004800
30	lnc-OXCT1-1	chr5:42168565-42168689	XLOC_004800
31	lnc-OXCT1-1	chr5:42153043-42153776	XLOC_004800
32	lnc-OXCT1-1	chr5:42159127-42159155	XLOC_004800
33	lnc-OXCT1-1	chr5:42168565-42168689	ENSG00000248519
34	lnc-OXCT1-1	chr5:42159439-42159548	NR_104635
35	lnc-OXCT1-1	chr5:42159439-42159548	NR_104636
36	lnc-OXCT1-1	chr5:42157044-42157513	XLOC_004800
37	lnc-OXCT1-1	chr5:42159439-42159548	ENSG00000248519
38	lnc-OXCT1-1	chr5:42168565-42168689	NR_104635
39	lnc-OXCT1-1	chr5:42155935-42157513	ENSG00000248519
40	lnc-OXCT1-1	chr5:42159129-42159155	XLOC_004800
41	lnc-FBXO4-1	chr5:42157824-42157966	XLOC_004360
42	lnc-OXCT1-1	chr5:42153043-42153776	XLOC_004800
43	lnc-OXCT1-1	chr5:42159439-42159548	XLOC_004800
44	lnc-OXCT1-1	chr5:42159129-42159155	XLOC_004800
45	lnc-OXCT1-1	chr5:42159129-42159155	XLOC_004800
46	lnc-FBXO4-1	chr5:42153042-42153776	NONHSAT101190

No data

Variant related genes	Relation type
FBLIM1	miRNA target sites
BIRC6	miRNA target sites
ELOVL2	miRNA target sites
BIN3	miRNA target sites
GFPT2	miRNA target sites
BIRC5	miRNA target sites
FNDC3B	miRNA target sites
G2E3	miRNA target sites
FAM171A1	miRNA target sites
PHLPP2	miRNA target sites
TPD52L2	miRNA target sites
VN1R1	miRNA target sites
MDFIC	miRNA target sites
ZC3H12C	miRNA target sites
ELMOD2	miRNA target sites
SNTA1	miRNA target sites
SERPINB9	miRNA target sites
HADH	miRNA target sites

Extended variants
information (count: 491 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112040424	chr5:42149010-42149011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570651878	chr5:42149011-42149012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs180821990	chr5:42149026-42149027	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs550027773	chr5:42149070-42149071	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs114785075	chr5:42149071-42149072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs141039420	chr5:42149074-42149075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs539982677	chr5:42149076-42149077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs115500044	chr5:42149079-42149080	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs149837846	chr5:42149082-42149083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs569984553	chr5:42149089-42149090	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs539146457	chr5:42149168-42149169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs561726637	chr5:42149178-42149179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs558764479	chr5:42149209-42149210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs185084097	chr5:42149237-42149238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs113375225	chr5:42149268-42149269	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs554925927	chr5:42149269-42149270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs563216560	chr5:42149272-42149273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs632189	chr5:42149284-42149285	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs632207	chr5:42149291-42149292	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs4007427	chr5:42149297-42149298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs560478713	chr5:42149323-42149324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs527827707	chr5:42149373-42149374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs6886079	chr5:42149382-42149383	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539998777	chr5:42149456-42149457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs531556964	chr5:42149529-42149530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs12514243	chr5:42149561-42149562	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs568355556	chr5:42149565-42149566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532937241	chr5:42149616-42149617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535344839	chr5:42149634-42149635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs3913458	chr5:42149641-42149642	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543571660	chr5:42149649-42149650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs539178969	chr5:42149703-42149704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs147951534	chr5:42149713-42149714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs190856430	chr5:42149733-42149734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs3913459	chr5:42149743-42149744	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs538447695	chr5:42149774-42149775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs556439185	chr5:42149795-42149796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs369936317	chr5:42149796-42149797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs13179796	chr5:42149816-42149817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs558348628	chr5:42149842-42149843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs549069508	chr5:42149872-42149873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141895777	chr5:42149873-42149874	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs114911932	chr5:42149888-42149889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs79481168	chr5:42149889-42149890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs546192531	chr5:42149925-42149926	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs3886374	chr5:42149935-42149936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs147118946	chr5:42149941-42149942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs111897040	chr5:42149951-42149952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs377314625	chr5:42150016-42150017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs10214156	chr5:42150017-42150018	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42149000-42149800	ZNF genes & repeats	Liver	Liver
2	chr5:42149000-42150000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr5:42149200-42150400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:42149400-42150200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr5:42152200-42152600	Enhancers	Adipose Nuclei	Adipose
6	chr5:42152200-42152800	Enhancers	Fetal Heart	heart
7	chr5:42152600-42158400	Weak transcription	Adipose Nuclei	Adipose
8	chr5:42152800-42156600	Weak transcription	Fetal Heart	heart
9	chr5:42153000-42153400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:42153400-42158400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:42156400-42157600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:42156600-42157600	Enhancers	Fetal Heart	heart
13	chr5:42156800-42157400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr5:42156800-42157400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:42156800-42157600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:42157200-42157600	Enhancers	NHEK	skin
17	chr5:42157600-42158000	Weak transcription	Fetal Heart	heart
18	chr5:42158000-42159000	Enhancers	Fetal Heart	heart
19	chr5:42158400-42158600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:42158400-42158800	Strong transcription	Adipose Nuclei	Adipose
21	chr5:42158800-42161000	Weak transcription	Adipose Nuclei	Adipose
22	chr5:42168200-42168800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr5:42168400-42168800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:42168400-42168800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr5:42168400-42168800	Enhancers	Esophagus	oesophagus
26	chr5:42168400-42169000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:42168400-42169200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr5:42168600-42169200	Enhancers	HUES48 Cell Line	embryonic stem cell

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