Variant report

Variant	nsv880026
Chromosome Location	chr4:133223152-133293122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:133266134-133266306	K562	blood:	n/a	n/a
2	BHLHE40	chr4:133264871-133264883	K562	blood:	n/a	n/a
3	BHLHE40	chr4:133266102-133266846	K562	blood:	n/a	n/a
4	BHLHE40	chr4:133265695-133265813	K562	blood:	n/a	n/a
5	BRCA1	chr4:133266159-133266384	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr4:133265310-133265941	K562	blood:	n/a	n/a
7	CBX3	chr4:133266054-133266694	K562	blood:	n/a	n/a
8	CCNT2	chr4:133266111-133266381	K562	blood:	n/a	n/a
9	CEBPB	chr4:133254553-133255549	IMR90	lung:	n/a	chr4:133254713-133254724 chr4:133254713-133254726
10	CEBPB	chr4:133278703-133278936	ECC-1	luminal epithelium:	n/a	chr4:133278842-133278859
11	CEBPB	chr4:133240074-133240372	K562	blood:	n/a	chr4:133240209-133240220 chr4:133240188-133240199 chr4:133240209-133240222
12	CEBPB	chr4:133228257-133228566	HepG2	liver:	n/a	chr4:133228409-133228420
13	CEBPB	chr4:133234404-133234637	HepG2	liver:	n/a	n/a
14	CEBPB	chr4:133240156-133240388	A549	lung:	n/a	chr4:133240209-133240220 chr4:133240188-133240199 chr4:133240209-133240222
15	CEBPB	chr4:133246117-133246325	HepG2	liver:	n/a	chr4:133246262-133246273 chr4:133246273-133246286 chr4:133246273-133246284
16	CEBPB	chr4:133234378-133234608	A549	lung:	n/a	n/a
17	CEBPB	chr4:133223604-133223874	HepG2	liver:	n/a	chr4:133223742-133223753 chr4:133223743-133223754 chr4:133223742-133223755
18	CEBPB	chr4:133223702-133223847	H1-hESC	embryonic stem cell:	n/a	chr4:133223742-133223753 chr4:133223743-133223754 chr4:133223742-133223755
19	CEBPB	chr4:133254850-133255208	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr4:133240140-133240393	HepG2	liver:	n/a	chr4:133240209-133240220 chr4:133240188-133240199 chr4:133240209-133240222
21	CEBPB	chr4:133228262-133228577	IMR90	lung:	n/a	chr4:133228409-133228420
22	CEBPB	chr4:133234391-133234624	IMR90	lung:	n/a	n/a
23	CEBPB	chr4:133266193-133266232	K562	blood:	n/a	n/a
24	CHD2	chr4:133265720-133266696	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr4:133266055-133266671	K562	blood:	n/a	n/a
26	CTCF	chr4:133254180-133254330	NHEK	skin:	n/a	chr4:133254290-133254299
27	CTCF	chr4:133254200-133254350	GM12873	blood:	n/a	chr4:133254290-133254299
28	CTCF	chr4:133254151-133254415	IMR90	lung:	n/a	chr4:133254290-133254299
29	CTCF	chr4:133277795-133277877	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr4:133254211-133254355	GM13977	blood:	n/a	chr4:133254290-133254299
31	CTCF	chr4:133254200-133254350	HPAF	blood vessel:	n/a	chr4:133254290-133254299
32	CTCF	chr4:133254180-133254330	HepG2	liver:	n/a	chr4:133254290-133254299
33	CTCF	chr4:133254200-133254350	HVMF	connective:	n/a	chr4:133254290-133254299
34	CTCF	chr4:133254188-133254397	GM12878	blood:	n/a	chr4:133254290-133254299
35	CTCF	chr4:133254240-133254390	HCM	heart:	n/a	chr4:133254290-133254299
36	CTCF	chr4:133254180-133254330	NHDF-neo	bronchial:	n/a	chr4:133254290-133254299
37	CTCF	chr4:133254200-133254350	HEK293	kidney:	n/a	chr4:133254290-133254299
38	CTCF	chr4:133254260-133254410	HMEC	breast:	n/a	chr4:133254290-133254299
39	CTCF	chr4:133254235-133254351	GM10248	blood:	n/a	chr4:133254290-133254299
40	CTCF	chr4:133289560-133289610	MCF-7	breast:	n/a	n/a
41	CTCF	chr4:133254180-133254330	GM12864	blood:	n/a	chr4:133254290-133254299
42	CTCF	chr4:133289551-133289632	MCF-7	breast:	n/a	n/a
43	CTCF	chr4:133254260-133254410	BJ	skin:	n/a	chr4:133254290-133254299
44	CTCF	chr4:133254199-133254333	SK-N-SH_RA	brain:	n/a	chr4:133254290-133254299
45	CTCF	chr4:133254180-133254330	HCFaa	heart:	n/a	chr4:133254290-133254299
46	CTCF	chr4:133254111-133254502	HCT-116	colon:	n/a	chr4:133254290-133254299
47	CTCF	chr4:133254820-133254970	HVMF	connective:	n/a	n/a
48	CTCF	chr4:133254180-133254330	HRPEpiC	eye:	n/a	chr4:133254290-133254299
49	CTCF	chr4:133254240-133254390	HA-sp	spinal cord:	n/a	chr4:133254290-133254299
50	CTCF	chr4:133254220-133254370	HRPEpiC	eye:	n/a	chr4:133254290-133254299

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:133266193-133266243	ovcar-3	ovarian:	n/a
2	chr4:133266193-133266243	NHBE	bronchial:	n/a
3	chr4:133266193-133266243	ECC-1	luminal epithelium:	n/a
4	chr4:133266322-133266372	HEK293	kidney:	embryo
5	chr4:133266322-133266372	BE2_C	brain:	n/a
6	chr4:133266193-133266243	BE2_C	brain:	n/a
7	chr4:133266322-133266372	BJ	skin:	n/a
8	chr4:133266322-133266372	SAEC	small airway:	n/a
9	chr4:133266193-133266243	U87	brain:	n/a
10	chr4:133266193-133266243	Hepatocyte	liver:	n/a
11	chr4:133266322-133266372	AG04450	lung:	fetal
12	chr4:133266193-133266243	HCT-116	colon:	n/a
13	chr4:133266322-133266372	AoSMC	blood vessel:	n/a
14	chr4:133266193-133266243	AG04449	skin:	fetal
15	chr4:133266322-133266372	ECC-1	luminal epithelium:	n/a
16	chr4:133266322-133266372	HCT-116	colon:	n/a
17	chr4:133266193-133266243	LNCaP	prostate:	n/a
18	chr4:133266193-133266243	Hela-S3	cervix:	n/a
19	chr4:133266193-133266243	NHDF-neo	bronchial:	n/a
20	chr4:133266322-133266372	HPAEpiC	pulmonary alveolar:	n/a
21	chr4:133266322-133266372	SK-N-SH	brain:	n/a
22	chr4:133266322-133266372	RPTEC	kidney:	n/a
23	chr4:133266193-133266243	PFSK-1	brain:	n/a
24	chr4:133266322-133266372	GM12891	blood:	n/a
25	chr4:133266193-133266243	IMR90	lung:	fetal
26	chr4:133266322-133266372	U87	brain:	n/a
27	chr4:133266322-133266372	GM12892	blood:	n/a
28	chr4:133266322-133266372	HAEpiC	amniotic membrane:	n/a
29	chr4:133266193-133266243	AoSMC	blood vessel:	n/a
30	chr4:133266322-133266372	ovcar-3	ovarian:	n/a
31	chr4:133266193-133266243	PANC-1	pancreas:	n/a
32	chr4:133266322-133266372	NB4	blood:	n/a
33	chr4:133266193-133266243	A549	lung:	n/a
34	chr4:133266193-133266243	AG04450	lung:	fetal
35	chr4:133266193-133266243	HMEC	breast:	n/a
36	chr4:133266322-133266372	HCPEpiC	choroid plexus:	n/a
37	chr4:133266193-133266243	Caco-2	colon:	n/a
38	chr4:133266322-133266372	HMEC	breast:	n/a
39	chr4:133266322-133266372	NT2-D1	testis:	n/a
40	chr4:133266193-133266243	HUVEC	blood vessel:	n/a
41	chr4:133266193-133266243	HRE	kidney:	n/a
42	chr4:133266322-133266372	Hela-S3	cervix:	n/a
43	chr4:133266193-133266243	HRPEpiC	eye:	n/a
44	chr4:133266193-133266243	HCM	heart:	n/a
45	chr4:133266322-133266372	MCF10A-Er-Src	breast:	n/a
46	chr4:133266193-133266243	PrEC	prostate:	n/a
47	chr4:133266322-133266372	A549	lung:	n/a
48	chr4:133266193-133266243	NT2-D1	testis:	n/a
49	chr4:133266193-133266243	HCPEpiC	choroid plexus:	n/a
50	chr4:133266193-133266243	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:133265507..133268108-chr4:133268991..133271558,3	K562	blood:
2	chr4:133263144..133265552-chr4:133295032..133296835,2	K562	blood:
3	chr4:133246638..133249812-chr4:133265864..133268563,3	K562	blood:
4	chr4:133254539..133258188-chr4:133265340..133266888,3	K562	blood:
5	chr4:133264521..133268108-chr4:133268991..133272057,6	K562	blood:
6	chr4:133264521..133268108-chr4:133268991..133272057,6	K562	blood:
7	chr4:133254539..133258188-chr4:133265340..133266888,3	K562	blood:
8	chr4:133246638..133249812-chr4:133265864..133268563,3	K562	blood:
9	chr4:133265507..133268108-chr4:133268991..133271558,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-62N21.1.1-11	chr4:133288941-133289634	NONHSAT098333

Variant related genes	Relation type
ELL2P2	TF binding region
ELL2P2	CpG island

Extended variants
information (count: 734 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13103069	chr4:133223152-133223153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546064883	chr4:133223181-133223182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556345230	chr4:133223216-133223217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149792259	chr4:133223270-133223271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576617252	chr4:133223276-133223277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568905310	chr4:133223300-133223301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375169841	chr4:133223301-133223302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542307159	chr4:133223304-133223305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147617098	chr4:133223318-133223319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527711733	chr4:133223418-133223419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555371589	chr4:133223459-133223460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185550855	chr4:133223470-133223471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142159713	chr4:133223484-133223485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190249891	chr4:133223489-133223490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182180698	chr4:133223494-133223495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371933541	chr4:133223501-133223502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185268184	chr4:133223554-133223555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114312967	chr4:133223580-133223581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569554996	chr4:133223615-133223616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568132989	chr4:133223636-133223637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533594812	chr4:133223637-133223638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547363432	chr4:133223652-133223653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570656692	chr4:133223660-133223661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543044534	chr4:133223763-133223764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556405988	chr4:133223807-133223808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17049225	chr4:133223830-133223831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535623487	chr4:133223865-133223866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149757699	chr4:133223936-133223937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115649193	chr4:133223943-133223944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191808808	chr4:133223993-133223994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564466692	chr4:133224153-133224154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7667347	chr4:133224190-133224191	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184092239	chr4:133224215-133224216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145606509	chr4:133224224-133224225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188239648	chr4:133224275-133224276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193177284	chr4:133224309-133224310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551748084	chr4:133224319-133224320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34530687	chr4:133224322-133224323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561680658	chr4:133224354-133224355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7667592	chr4:133224362-133224363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs547086060	chr4:133224435-133224436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115940868	chr4:133224463-133224464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117846732	chr4:133224509-133224510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74640788	chr4:133224513-133224514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183131103	chr4:133224517-133224518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535686398	chr4:133224521-133224522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555493091	chr4:133224523-133224524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17049245	chr4:133224547-133224548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553871876	chr4:133224570-133224571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187099645	chr4:133224594-133224595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Mental retardation	17901693	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:133222600-133224800	Weak transcription	Fetal Lung	lung
2	chr4:133224800-133225000	Enhancers	Fetal Lung	lung
3	chr4:133234400-133235400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr4:133235000-133235400	Enhancers	Brain Anterior Caudate	brain
5	chr4:133236800-133237000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:133237000-133237200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:133242200-133242400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr4:133254000-133255200	Enhancers	NHLF	lung
9	chr4:133254400-133255600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:133254800-133255600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:133254800-133255600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:133265000-133265200	Enhancers	Hela-S3	cervix
13	chr4:133265200-133265400	Enhancers	Placenta	Placenta
14	chr4:133265200-133265600	Flanking Active TSS	Hela-S3	cervix
15	chr4:133265200-133267200	Active TSS	K562	blood
16	chr4:133265400-133265600	Flanking Active TSS	Placenta	Placenta
17	chr4:133265600-133267000	Active TSS	Placenta	Placenta
18	chr4:133265600-133267000	Active TSS	Hela-S3	cervix
19	chr4:133266200-133266600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr4:133266400-133266600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:133269200-133270400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:133276000-133276600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:133276400-133276600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:133276600-133282200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:133282200-133282400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:133285200-133285800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:133287000-133287400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr4:133287200-133288000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
29	chr4:133287200-133288000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
30	chr4:133287200-133288000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:133287400-133287800	ZNF genes & repeats	Dnd41	blood
32	chr4:133288000-133289000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:133290200-133290800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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