Variant report

Variant	nsv1005620
Chromosome Location	chr4:62978115-63035387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:37)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:62989222-62989522	IMR90	lung:	n/a	chr4:62989381-62989392
2	CEBPB	chr4:62989212-62989532	HepG2	liver:	n/a	chr4:62989381-62989392
3	CEBPB	chr4:62989244-62989506	A549	lung:	n/a	chr4:62989381-62989392
4	CTCF	chr4:62996140-62996290	WERI-Rb-1	eye:	n/a	chr4:62996212-62996230 chr4:62996220-62996228
5	CTCF	chr4:63028320-63028470	GM12871	blood:	n/a	n/a
6	CTCF	chr4:63028340-63028490	HRE	kidney:	n/a	n/a
7	CTCF	chr4:62996120-62996270	HRPEpiC	eye:	n/a	chr4:62996212-62996230 chr4:62996220-62996228
8	CTCF	chr4:63028620-63028770	BE2_C	brain:	n/a	n/a
9	CTCF	chr4:63028500-63028650	HEK293	kidney:	n/a	n/a
10	CTCF	chr4:63028360-63028510	BE2_C	brain:	n/a	n/a
11	CTCF	chr4:62996140-62996290	HRE	kidney:	n/a	chr4:62996212-62996230 chr4:62996220-62996228
12	CTCF	chr4:62996072-62996377	GM12878	blood:	n/a	chr4:62996323-62996331 chr4:62996212-62996230 chr4:62996220-62996228
13	CTCF	chr4:63028390-63028735	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr4:62996100-62996250	HPAF	blood vessel:	n/a	chr4:62996212-62996230 chr4:62996220-62996228
15	CTCF	chr4:63028460-63028610	NHEK	skin:	n/a	n/a
16	E2F4	chr4:63001267-63001481	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr4:62989355-62989395	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr4:62996172-62996245	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr4:62998525-62998653	MCF10A-Er-Src	breast:	n/a	n/a
20	EP300	chr4:62984834-62985412	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr4:63001053-63001756	SK-N-SH	brain:	n/a	n/a
22	EP300	chr4:62983544-62985587	SK-N-SH	brain:	n/a	chr4:62984211-62984220 chr4:62984487-62984495
23	EP300	chr4:62984859-62985320	SK-N-SH_RA	brain:	n/a	n/a
24	EP300	chr4:62984304-62984682	SK-N-SH_RA	brain:	n/a	chr4:62984487-62984495
25	EP300	chr4:63001318-63001590	SK-N-SH_RA	brain:	n/a	n/a
26	EP300	chr4:62984204-62984662	SK-N-SH_RA	brain:	n/a	chr4:62984211-62984220 chr4:62984487-62984495
27	EP300	chr4:62984144-62985697	SK-N-SH	brain:	n/a	chr4:62984211-62984220 chr4:62985661-62985670 chr4:62984487-62984495
28	EP300	chr4:62983586-62984685	SK-N-SH	brain:	n/a	chr4:62984211-62984220 chr4:62984487-62984495
29	EP300	chr4:62984837-62985576	SK-N-SH	brain:	n/a	n/a
30	EP300	chr4:62983659-62983921	SK-N-SH_RA	brain:	n/a	n/a
31	EP300	chr4:63001109-63001726	SK-N-SH_RA	brain:	n/a	n/a
32	ESR1	chr4:63011025-63011300	ECC-1	luminal epithelium:	n/a	n/a
33	FOS	chr4:62983785-62983926	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr4:63030397-63030558	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr4:63030395-63030595	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr4:63030454-63030476	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr4:63001303-63001645	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr4:62991983-62992157	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr4:62980201-62980312	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr4:63001286-63001631	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr4:63030285-63030601	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr4:62983651-62983851	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr4:63001266-63001600	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr4:63001292-63001599	MCF10A-Er-Src	breast:	n/a	n/a
45	FOSL2	chr4:62983483-62984040	SK-N-SH	brain:	n/a	n/a
46	FOSL2	chr4:63001110-63001643	SK-N-SH	brain:	n/a	n/a
47	FOSL2	chr4:62984959-62985426	SK-N-SH	brain:	n/a	chr4:62985119-62985128
48	FOXM1	chr4:62983383-62984672	SK-N-SH	brain:	n/a	n/a
49	FOXM1	chr4:62984709-62985524	SK-N-SH	brain:	n/a	n/a
50	FOXM1	chr4:62984937-62985440	SK-N-SH	brain:	n/a	n/a

No data

(count:37 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TECRL-4	chr4:62985946-62986007	ENSG00000248692.1
2	lnc-TECRL-4	chr4:62983780-62983820	ENSG00000248692.1
3	lnc-LPHN3-2	chr4:63010851-63014062	NONHSAT096620
4	lnc-TECRL-4	chr4:62985946-62986007	ENSG00000248692.1
5	lnc-LPHN3-2	chr4:63010852-63014062	XLOC_003555
6	lnc-TECRL-4	chr4:63002384-63002474	ENSG00000248692.1
7	lnc-LPHN3-2	chr4:63003455-63003541	XLOC_003555
8	lnc-TECRL-4	chr4:63027465-63027581	ENSG00000248692.1
9	lnc-TECRL-4	chr4:62983623-62983820	ENSG00000248692.1
10	lnc-TECRL-4	chr4:63021660-63021759	ENSG00000248692.1
11	lnc-TECRL-4	chr4:63023041-63023103	ENSG00000248692.1
12	lnc-LPHN3-2	chr4:63001669-63001972	XLOC_003555
13	lnc-LPHN3-2	chr4:63003455-63003541	XLOC_003555
14	lnc-TECRL-4	chr4:63027465-63027581	ENSG00000248692.1
15	lnc-LPHN3-2	chr4:63003455-63003541	XLOC_003555
16	lnc-TECRL-4	chr4:63023087-63023103	ENSG00000248692.1
17	lnc-LPHN3-2	chr4:63001669-63001972	XLOC_003555
18	lnc-TECRL-4	chr4:63031232-63031272	ENSG00000248692.1
19	lnc-TECRL-4	chr4:63002384-63002474	ENSG00000248692.1
20	lnc-LPHN3-2	chr4:63001668-63001972	NONHSAT096620
21	lnc-TECRL-4	chr4:62985946-62986007	ENSG00000248692.1
22	lnc-LPHN3-2	chr4:62999461-62999769	NONHSAT096620
23	lnc-TECRL-4	chr4:62985946-62986007	ENSG00000248692.1
24	lnc-LPHN3-3	chr4:63031380-63031732	XLOC_003556
25	lnc-TECRL-4	chr4:63031232-63031263	ENSG00000248692.1
26	lnc-LPHN3-2	chr4:63003454-63003541	NONHSAT096620
27	lnc-TECRL-4	chr4:63002384-63002474	ENSG00000248692.1
28	lnc-LPHN3-2	chr4:63001669-63001972	XLOC_003555
29	lnc-LPHN3-2	chr4:63027477-63027983	XLOC_003555
30	lnc-TECRL-4	chr4:62983780-62983820	ENSG00000248692.1
31	lnc-LPHN3-2	chr4:63010854-63014062	XLOC_003555
32	lnc-TECRL-4	chr4:62992765-62992805	ENSG00000248692.1
33	lnc-TECRL-4	chr4:63002384-63002474	ENSG00000248692.1
34	lnc-TECRL-4	chr4:63031232-63031272	ENSG00000248692.1
35	lnc-TECRL-4	chr4:63023041-63023103	ENSG00000248692.1
36	lnc-TECRL-4	chr4:62992765-62992805	ENSG00000248692.1
37	lnc-LPHN3-2	chr4:63027476-63027983	NONHSAT096620

No data

Variant related genes	Relation type
ENSG00000248692	TF binding region
KIAA0368	miRNA target sites
ANTXR1	miRNA target sites
PSEN1	miRNA target sites

Extended variants
information (count: 2059 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2059 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184071439	chr4:62981256-62981257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536932239	chr4:62981275-62981276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555230797	chr4:62981283-62981284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570262300	chr4:62981301-62981302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187085564	chr4:62981319-62981320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376210950	chr4:62981355-62981356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558581376	chr4:62981357-62981358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559465503	chr4:62981382-62981383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576767218	chr4:62981387-62981388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540994678	chr4:62981394-62981395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552678000	chr4:62981396-62981397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147107635	chr4:62981404-62981405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191099550	chr4:62981411-62981412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138528701	chr4:62981413-62981414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182305902	chr4:62981477-62981478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551590402	chr4:62981480-62981481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543553471	chr4:62981500-62981501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565350453	chr4:62981699-62981700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532414974	chr4:62981714-62981715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547807599	chr4:62981715-62981716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566058823	chr4:62981718-62981719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149648681	chr4:62981771-62981772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114256900	chr4:62981772-62981773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569282190	chr4:62983054-62983055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567778790	chr4:62983100-62983101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535161395	chr4:62983112-62983113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs10006606	chr4:62983115-62983116	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150538287	chr4:62983131-62983132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554883619	chr4:62983158-62983159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557729897	chr4:62983200-62983201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192456449	chr4:62983234-62983235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533947074	chr4:62983236-62983237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553520376	chr4:62983247-62983248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540010885	chr4:62983360-62983361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183963121	chr4:62983361-62983362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575022249	chr4:62983364-62983365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397772222	chr4:62983370-62983371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543833715	chr4:62983397-62983398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188252403	chr4:62983464-62983465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553280797	chr4:62983496-62983497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575508582	chr4:62983504-62983505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546479667	chr4:62983678-62983679	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs139900826	chr4:62983684-62983685	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs528697486	chr4:62983691-62983692	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs558332409	chr4:62983711-62983712	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs540458397	chr4:62983729-62983730	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs77318287	chr4:62983730-62983731	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs143401397	chr4:62983732-62983733	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs550254072	chr4:62983750-62983751	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs568846718	chr4:62983754-62983755	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:62981200-62981800	Enhancers	Fetal Lung	lung
2	chr4:62983000-62983200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr4:62983000-62983800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:62983800-62984800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:62984400-62985600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:62984800-62985400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:62985000-62985400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:62985600-62991200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:62991200-62992400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:62991400-62992400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:62992400-62995800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:62995800-62996200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:62995800-62996800	Enhancers	Fetal Heart	heart
14	chr4:62996000-62996800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:62996200-62997200	Enhancers	Fetal Muscle Leg	muscle
16	chr4:62996400-62997000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:62996400-62997200	Enhancers	Fetal Muscle Trunk	muscle
18	chr4:62996600-62996800	Enhancers	Gastric	stomach
19	chr4:62996600-62997000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:62996600-62997000	Enhancers	Left Ventricle	heart
21	chr4:62996800-62998000	Weak transcription	Fetal Heart	heart
22	chr4:62998000-62998200	Enhancers	Fetal Heart	heart
23	chr4:62998200-62999000	Flanking Active TSS	Fetal Heart	heart
24	chr4:62999000-62999600	Enhancers	Fetal Heart	heart
25	chr4:62999000-63000400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:62999000-63001200	Enhancers	NH-A	brain
27	chr4:62999200-62999800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:62999200-63003400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:62999400-62999600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:62999400-62999800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr4:62999400-62999800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr4:62999400-63000800	Active TSS	Left Ventricle	heart
33	chr4:62999400-63001800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:62999400-63001800	Active TSS	Right Ventricle	heart
35	chr4:62999400-63002800	Active TSS	Right Atrium	heart
36	chr4:62999600-62999800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:62999600-63000200	Flanking Active TSS	Fetal Heart	heart
38	chr4:62999600-63000600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:62999800-63000600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:62999800-63000800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:62999800-63001800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr4:62999800-63002600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:63000000-63003000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr4:63000200-63001400	Active TSS	Fetal Heart	heart
45	chr4:63000600-63001400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:63000600-63001800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr4:63000800-63002200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:63000800-63002400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr4:63000800-63002800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr4:63000800-63004000	Weak transcription	Left Ventricle	heart

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