Variant report

Variant	nsv879030
Chromosome Location	chr4:59379696-59548868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:310)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:59466520-59466896	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr4:59456922-59457244	GM12878	blood:	n/a	chr4:59457073-59457084
3	BATF	chr4:59468251-59468505	GM12878	blood:	n/a	n/a
4	BATF	chr4:59468281-59468492	GM12878	blood:	n/a	n/a
5	BATF	chr4:59427000-59427323	GM12878	blood:	n/a	n/a
6	BCL11A	chr4:59468957-59469159	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL11A	chr4:59426923-59427300	GM12878	blood:	n/a	n/a
8	BHLHE40	chr4:59429475-59429629	K562	blood:	n/a	n/a
9	BHLHE40	chr4:59453895-59454384	HepG2	liver:	n/a	n/a
10	CEBPB	chr4:59466559-59466749	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr4:59472478-59472827	A549	lung:	n/a	chr4:59472661-59472672
12	CEBPB	chr4:59471106-59471449	HepG2	liver:	n/a	chr4:59471282-59471293
13	CEBPB	chr4:59433275-59433358	HepG2	liver:	n/a	chr4:59433335-59433346 chr4:59433333-59433344 chr4:59433333-59433346
14	CEBPB	chr4:59471197-59471377	H1-hESC	embryonic stem cell:	n/a	chr4:59471282-59471293
15	CEBPB	chr4:59472521-59472830	K562	blood:	n/a	chr4:59472661-59472672
16	CEBPB	chr4:59472508-59472828	Hela-S3	cervix:	n/a	chr4:59472661-59472672
17	CEBPB	chr4:59503710-59503939	HepG2	liver:	n/a	chr4:59503841-59503852 chr4:59503840-59503851
18	CEBPB	chr4:59471215-59471424	A549	lung:	n/a	chr4:59471282-59471293
19	CEBPB	chr4:59472487-59472850	IMR90	lung:	n/a	chr4:59472661-59472672
20	CEBPB	chr4:59472445-59472922	A549	lung:	n/a	chr4:59472661-59472672
21	CEBPB	chr4:59457665-59457786	K562	blood:	n/a	n/a
22	CEBPB	chr4:59402496-59402810	HepG2	liver:	n/a	chr4:59402726-59402737
23	CEBPB	chr4:59472535-59472760	ECC-1	luminal epithelium:	n/a	chr4:59472661-59472672
24	CEBPB	chr4:59471131-59471438	IMR90	lung:	n/a	chr4:59471282-59471293
25	CEBPB	chr4:59402594-59402707	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr4:59472518-59472832	H1-hESC	embryonic stem cell:	n/a	chr4:59472661-59472672
27	CEBPB	chr4:59472494-59472835	HepG2	liver:	n/a	chr4:59472661-59472672
28	CEBPZ	chr4:59514907-59515006	HepG2	liver:	n/a	n/a
29	CHD2	chr4:59466485-59466790	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr4:59450288-59450326	GM10266	blood:	n/a	n/a
31	CTCF	chr4:59380580-59380730	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr4:59380490-59380853	GM12878	blood:	n/a	n/a
33	CTCF	chr4:59380644-59380703	GM12878	blood:	n/a	n/a
34	CTCF	chr4:59380620-59380770	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr4:59380561-59380771	Medullo	brain:	n/a	n/a
36	CTCF	chr4:59447055-59447137	GM13976	blood:	n/a	n/a
37	CTCF	chr4:59380584-59380750	LNCaP	prostate:	n/a	n/a
38	CTCF	chr4:59380551-59380749	K562	blood:	n/a	n/a
39	CTCF	chr4:59380652-59380703	Pancreas_OC	pancreas:	n/a	n/a
40	CTCF	chr4:59471362-59471381	GM13976	blood:	n/a	n/a
41	CTCF	chr4:59454100-59454250	A549	lung:	n/a	n/a
42	CTCF	chr4:59454262-59454277	MCF-7	breast:	n/a	n/a
43	CTCF	chr4:59530554-59530680	GM13976	blood:	n/a	n/a
44	CTCF	chr4:59380653-59380673	GM10248	blood:	n/a	n/a
45	CTCF	chr4:59380575-59380749	LNCaP	prostate:	n/a	n/a
46	CTCF	chr4:59454215-59454324	Gliobla	brain:	n/a	n/a
47	CTCF	chr4:59380477-59380795	MCF-7	breast:	n/a	n/a
48	CTCF	chr4:59380521-59380835	A549	lung:	n/a	n/a
49	CTCF	chr4:59535700-59535850	GM12873	blood:	n/a	n/a
50	CTCF	chr4:59510921-59510958	Pancreas_OC	pancreas:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:59415094..59416810-chr4:59423208..59424862,2	K562	blood:
2	chr4:59510253..59512567-chr4:59514784..59516735,2	K562	blood:
3	chr4:59510253..59512567-chr4:59514784..59516735,2	K562	blood:
4	chr4:59415094..59416810-chr4:59423208..59424862,2	K562	blood:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGFBP7-4	chr4:59390695-59390989	XLOC_003961
2	lnc-IGFBP7-4	chr4:59429672-59429882	XLOC_003961
3	lnc-IGFBP7-4	chr4:59428330-59428484	XLOC_003961
4	lnc-IGFBP7-12	chr4:59535492-59535997	l_2652_chr4:59411765-59536344_testes
5	lnc-IGFBP7-12	chr4:59411766-59412060	l_2652_chr4:59411765-59536344_testes
6	lnc-IGFBP7-12	chr4:59421805-59421891	l_2652_chr4:59411765-59536344_testes
7	lnc-IGFBP7-4	chr4:59395374-59395435	XLOC_003961
8	lnc-POLR2B-5	chr4:59433707-59433845	NONHSAT096574
9	lnc-IGFBP7-4	chr4:59395374-59395416	XLOC_003961
10	lnc-IGFBP7-4	chr4:59402439-59402493	XLOC_003961
11	lnc-POLR2B-5	chr4:59456313-59456332	NONHSAT096574
12	lnc-IGFBP7-4	chr4:59431234-59431287	XLOC_003961
13	lnc-POLR2B-5	chr4:59431580-59431723	XLOC_003550
14	lnc-IGFBP7-4	chr4:59431234-59431369	XLOC_003961
15	lnc-IGFBP7-4	chr4:59429672-59429882	XLOC_003961
16	lnc-POLR2B-5	chr4:59433681-59433840	XLOC_003550
17	lnc-IGFBP7-12	chr4:59535998-59536344	l_2652_chr4:59411765-59536344_testes
18	lnc-IGFBP7-12	chr4:59536417-59536488	l_2652_chr4:59411765-59536344_testes
19	lnc-POLR2B-5	chr4:59454099-59454235	NONHSAT096574
20	lnc-IGFBP7-4	chr4:59390680-59390989	XLOC_003961
21	lnc-IGFBP7-4	chr4:59390695-59390989	XLOC_003961

No data

Variant related genes	Relation type
ENSG00000250078	TF binding region
ENSG00000250340	TF binding region
WEE1	miRNA target sites
CDK1	miRNA target sites

Extended variants
information (count: 2527 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2527 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs506871	chr4:59381211-59381212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561982641	chr4:59381219-59381220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149947180	chr4:59381248-59381249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544322561	chr4:59381275-59381276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368968046	chr4:59381308-59381309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116436226	chr4:59381404-59381405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77732960	chr4:59381410-59381411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551840037	chr4:59381451-59381452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560180875	chr4:59381470-59381471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7670257	chr4:59381505-59381506	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549117899	chr4:59381555-59381556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78670841	chr4:59381563-59381564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190050927	chr4:59381642-59381643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550349037	chr4:59381648-59381649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568813884	chr4:59381651-59381652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371206092	chr4:59381671-59381672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183030535	chr4:59381705-59381706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75926462	chr4:59381711-59381712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572945905	chr4:59381806-59381807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560183608	chr4:59381919-59381920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6826728	chr4:59381925-59381926	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs555593667	chr4:59381929-59381930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574031029	chr4:59381966-59381967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544474301	chr4:59381975-59381976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369584497	chr4:59381976-59381977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533084154	chr4:59381980-59381981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138194880	chr4:59381989-59381990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200498347	chr4:59381997-59381998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201406752	chr4:59390720-59390721	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs77404198	chr4:59390750-59390751	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs73819264	chr4:59390762-59390763	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs10024271	chr4:59390794-59390795	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs561012608	chr4:59390826-59390827	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs186729470	chr4:59390827-59390828	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs142849075	chr4:59390846-59390847	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs76736075	chr4:59390874-59390875	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs17089374	chr4:59390890-59390891	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs547413976	chr4:59390893-59390894	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs55707164	chr4:59390905-59390906	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs536614242	chr4:59390944-59390945	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs554787940	chr4:59390945-59390946	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs577421	chr4:59390965-59390966	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs550710904	chr4:59401843-59401844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs188814647	chr4:59401869-59401870	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs140705457	chr4:59401906-59401907	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs35956885	chr4:59401917-59401918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs11133574	chr4:59401986-59401987	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181189354	chr4:59402021-59402022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569429570	chr4:59402035-59402036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548831171	chr4:59402050-59402051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Renal cell carcinoma	18194544	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
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	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
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
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:59381200-59381800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:59381200-59381800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr4:59381200-59381800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:59381200-59382000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:59381200-59382000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr4:59381400-59381800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:59381400-59382000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:59401800-59402000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:59402000-59402200	Weak transcription	Fetal Lung	lung
10	chr4:59404400-59404800	Enhancers	Placenta	Placenta
11	chr4:59408000-59408400	Enhancers	Fetal Lung	lung
12	chr4:59408000-59408400	Enhancers	Fetal Stomach	stomach
13	chr4:59414600-59418000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:59418000-59418200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:59418000-59418200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:59418000-59419200	Enhancers	Placenta	Placenta
17	chr4:59418000-59420000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr4:59418200-59418600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:59418600-59419200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:59418800-59419000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:59418800-59419400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:59418800-59420200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:59418800-59420800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr4:59419000-59419200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:59419000-59419400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:59419000-59419400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr4:59419000-59419600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr4:59419800-59420000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:59426800-59427000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr4:59427000-59428800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:59429600-59430600	Enhancers	Placenta	Placenta
32	chr4:59430600-59432000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:59431600-59432000	Enhancers	Fetal Intestine Small	intestine
34	chr4:59432000-59433800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:59432200-59433000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr4:59432200-59433000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr4:59432200-59433000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:59432400-59432800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr4:59432400-59433000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:59432400-59433000	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr4:59433800-59434000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:59442000-59442200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:59451600-59451800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:59451800-59453800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:59453800-59454200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:59461400-59461600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:59461400-59461600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr4:59461600-59462600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:59461600-59463200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:59462600-59463800	Enhancers	HUES64 Cell Line	embryonic stem cell

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