Variant report

Variant	nsv966249
Chromosome Location	chr4:3883006-3908334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:196)
CpG islands
(count:794)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:196 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:3895420-3895655	GM12878	blood:	n/a	n/a
2	BATF	chr4:3895419-3895646	GM12878	blood:	n/a	n/a
3	BCL3	chr4:3902420-3902881	GM12878	blood:	n/a	n/a
4	BCL3	chr4:3900404-3900731	GM12878	blood:	n/a	n/a
5	BCL3	chr4:3902545-3902796	GM12878	blood:	n/a	n/a
6	BCL3	chr4:3901177-3901411	GM12878	blood:	n/a	n/a
7	BCL3	chr4:3900404-3900629	GM12878	blood:	n/a	n/a
8	CEBPB	chr4:3900666-3901031	IMR90	lung:	n/a	n/a
9	CEBPB	chr4:3900138-3900342	K562	blood:	n/a	n/a
10	CEBPB	chr4:3900677-3901032	A549	lung:	n/a	n/a
11	CEBPB	chr4:3900109-3900431	A549	lung:	n/a	n/a
12	CEBPB	chr4:3900114-3900304	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr4:3900724-3901016	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr4:3900078-3900440	IMR90	lung:	n/a	n/a
15	CEBPB	chr4:3900073-3900440	HepG2	liver:	n/a	n/a
16	CEBPB	chr4:3900665-3901030	HepG2	liver:	n/a	n/a
17	CTCF	chr4:3895400-3895550	HMF	breast:	n/a	n/a
18	CTCF	chr4:3895400-3895550	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr4:3895400-3895550	HEK293	kidney:	n/a	n/a
20	CTCF	chr4:3895329-3895694	K562	blood:	n/a	n/a
21	CTCF	chr4:3895360-3895510	MCF-7	breast:	n/a	n/a
22	CTCF	chr4:3895420-3895570	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr4:3895398-3895732	K562	blood:	n/a	n/a
24	CTCF	chr4:3895400-3895550	GM12874	blood:	n/a	n/a
25	CTCF	chr4:3883714-3883814	GM13976	blood:	n/a	n/a
26	CTCF	chr4:3895440-3895590	RPTEC	kidney:	n/a	n/a
27	CTCF	chr4:3895404-3895650	A549	lung:	n/a	n/a
28	CTCF	chr4:3895380-3895530	GM12864	blood:	n/a	n/a
29	CTCF	chr4:3883020-3883170	GM12864	blood:	n/a	n/a
30	CTCF	chr4:3895380-3895530	MCF-7	breast:	n/a	n/a
31	CTCF	chr4:3895400-3895550	HepG2	liver:	n/a	n/a
32	CTCF	chr4:3895447-3895592	LNCaP	prostate:	n/a	n/a
33	CTCF	chr4:3895380-3895530	HMF	breast:	n/a	n/a
34	CTCF	chr4:3895400-3895550	A549	lung:	n/a	n/a
35	CTCF	chr4:3895440-3895590	GM12872	blood:	n/a	n/a
36	CTCF	chr4:3895469-3895574	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr4:3895400-3895550	GM12875	blood:	n/a	n/a
38	CTCF	chr4:3895420-3895570	BE2_C	brain:	n/a	n/a
39	CTCF	chr4:3895352-3895664	K562	blood:	n/a	n/a
40	CTCF	chr4:3895420-3895570	GM12869	blood:	n/a	n/a
41	CTCF	chr4:3895449-3895601	GM19239	blood:	n/a	n/a
42	CTCF	chr4:3895380-3895530	Caco-2	colon:	n/a	n/a
43	CTCF	chr4:3895405-3895725	K562	blood:	n/a	n/a
44	CTCF	chr4:3895420-3895570	GM12873	blood:	n/a	n/a
45	CTCF	chr4:3895448-3895650	Gliobla	brain:	n/a	n/a
46	CTCF	chr4:3895352-3895721	GM12878	blood:	n/a	n/a
47	CTCF	chr4:3895425-3895590	Medullo	brain:	n/a	n/a
48	CTCF	chr4:3895383-3895678	A549	lung:	n/a	n/a
49	CTCF	chr4:3895400-3895550	GM06990	blood:	n/a	n/a
50	CTCF	chr4:3893146-3893227	Lung_OC	lung:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:3899366-3899416	AG09309	skin:	n/a
2	chr4:3899366-3899416	AG09309	skin:	n/a
3	chr4:3898822-3898872	NB4	blood:	n/a
4	chr4:3897437-3897487	PrEC	prostate:	n/a
5	chr4:3899446-3899496	Hepatocyte	liver:	n/a
6	chr4:3898877-3898927	HMEC	breast:	n/a
7	chr4:3899446-3899496	HRPEpiC	eye:	n/a
8	chr4:3897437-3897487	NT2-D1	testis:	n/a
9	chr4:3898877-3898927	IMR90	lung:	fetal
10	chr4:3898877-3898927	Jurkat	blood:	n/a
11	chr4:3897762-3897812	BJ	skin:	n/a
12	chr4:3896780-3896830	NH-A	brain:	n/a
13	chr4:3899446-3899496	HCPEpiC	choroid plexus:	n/a
14	chr4:3899919-3899969	HCM	heart:	n/a
15	chr4:3897200-3897250	HCM	heart:	n/a
16	chr4:3897762-3897812	NHDF-neo	bronchial:	n/a
17	chr4:3898877-3898927	NHDF-neo	bronchial:	n/a
18	chr4:3899366-3899416	GM12891	blood:	n/a
19	chr4:3897437-3897487	HRCEpiC	kidney:	n/a
20	chr4:3899446-3899496	MCF-7	breast:	n/a
21	chr4:3897200-3897250	NH-A	brain:	n/a
22	chr4:3895024-3895074	MCF10A-Er-Src	breast:	n/a
23	chr4:3899366-3899416	RPTEC	kidney:	n/a
24	chr4:3898822-3898872	PANC-1	pancreas:	n/a
25	chr4:3896780-3896830	AG04449	skin:	fetal
26	chr4:3897200-3897250	SK-N-SH	brain:	n/a
27	chr4:3897762-3897812	MCF10A-Er-Src	breast:	n/a
28	chr4:3895084-3895134	HEK293	kidney:	embryo
29	chr4:3898822-3898872	HCT-116	colon:	n/a
30	chr4:3899446-3899496	AoSMC	blood vessel:	n/a
31	chr4:3898790-3898840	GM12878	blood:	n/a
32	chr4:3899446-3899496	AG10803	skin:	n/a
33	chr4:3899446-3899496	ECC-1	luminal epithelium:	n/a
34	chr4:3895024-3895074	HEK293	kidney:	embryo
35	chr4:3897437-3897487	H1-hESC	embryonic stem cell:	embryo
36	chr4:3895024-3895074	GM19239	blood:	n/a
37	chr4:3898790-3898840	HPAEpiC	pulmonary alveolar:	n/a
38	chr4:3896678-3896728	HMEC	breast:	n/a
39	chr4:3898822-3898872	GM19239	blood:	n/a
40	chr4:3898822-3898872	HCF	heart:	n/a
41	chr4:3898877-3898927	LNCaP	prostate:	n/a
42	chr4:3896780-3896830	HAEpiC	amniotic membrane:	n/a
43	chr4:3896780-3896830	HIPEpiC	eye:	n/a
44	chr4:3899919-3899969	ovcar-3	ovarian:	n/a
45	chr4:3899446-3899496	BE2_C	brain:	n/a
46	chr4:3899366-3899416	HAEpiC	amniotic membrane:	n/a
47	chr4:3897762-3897812	NT2-D1	testis:	n/a
48	chr4:3898790-3898840	HEK293	kidney:	embryo
49	chr4:3899919-3899969	HMEC	breast:	n/a
50	chr4:3896780-3896830	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:3867932..3870824-chr4:3880494..3883548,4	K562	blood:
2	chr4:3875544..3878977-chr4:3880853..3884345,4	MCF-7	breast:
3	chr4:3766377..3769370-chr4:3879934..3883138,3	K562	blood:
4	chr4:3867255..3869432-chr4:3880872..3883548,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249522	TF binding region
OR7E163P	TF binding region
OR7E162P	TF binding region
ENSG00000249522	CpG island
OR7E163P	CpG island
OR7E162P	CpG island
ENSG00000184160	chromatin interactions

Extended variants
information (count: 1263 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1263 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28678310	chr4:3883022-3883023	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532075626	chr4:3883028-3883029	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs33956964	chr4:3883031-3883032	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78358489	chr4:3883038-3883039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs185878936	chr4:3883053-3883054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79749940	chr4:3883057-3883058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562273738	chr4:3883112-3883113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs139094390	chr4:3883121-3883122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149929712	chr4:3883129-3883130	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568621476	chr4:3883190-3883191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144079120	chr4:3883192-3883193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537628014	chr4:3883215-3883216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547639511	chr4:3883245-3883246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201322161	chr4:3883260-3883261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571006362	chr4:3883264-3883265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540065316	chr4:3883277-3883278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556691523	chr4:3883288-3883289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148685798	chr4:3883309-3883310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199708282	chr4:3883320-3883321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374614286	chr4:3883321-3883322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200757835	chr4:3883333-3883334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574618784	chr4:3883338-3883339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556349542	chr4:3883371-3883372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73792789	chr4:3883378-3883379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs150516891	chr4:3883388-3883389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200184112	chr4:3883414-3883415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201045309	chr4:3883415-3883416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144627650	chr4:3883419-3883420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151262599	chr4:3883422-3883423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191190622	chr4:3883452-3883453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140523965	chr4:3883510-3883511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62289174	chr4:3883552-3883553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527319418	chr4:3883553-3883554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553458199	chr4:3883558-3883559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139448363	chr4:3883559-3883560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571104056	chr4:3883561-3883562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540028500	chr4:3883562-3883563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550405653	chr4:3883566-3883567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139044949	chr4:3883572-3883573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201245222	chr4:3883577-3883578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570116173	chr4:3883586-3883587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571663359	chr4:3883600-3883601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542265020	chr4:3883602-3883603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555443461	chr4:3883616-3883617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183098928	chr4:3883632-3883633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534737816	chr4:3883636-3883637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554033398	chr4:3883637-3883638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576769692	chr4:3883638-3883639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113438693	chr4:3883646-3883647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555946320	chr4:3883652-3883653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3882800-3884200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:3882800-3884400	Weak transcription	Right Atrium	heart
3	chr4:3884200-3884400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:3884200-3884600	Enhancers	Osteobl	bone
5	chr4:3884200-3885000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:3884400-3884600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr4:3884400-3884600	Enhancers	HSMM	muscle
8	chr4:3884400-3884600	Enhancers	NHDF-Ad	bronchial
9	chr4:3895000-3896400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:3895200-3898200	Enhancers	Placenta	Placenta
11	chr4:3895800-3896000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:3895800-3896200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:3895800-3896200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:3895800-3896800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr4:3895800-3897000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:3895800-3897000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:3895800-3897000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:3895800-3897000	Enhancers	HepG2	liver
19	chr4:3895800-3897200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:3896000-3896200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr4:3896000-3896200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:3896000-3896200	Enhancers	Fetal Intestine Small	intestine
23	chr4:3896000-3896400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:3896000-3905000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:3896200-3898400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:3896200-3898400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:3897000-3897200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:3897200-3903800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:3898200-3906400	Weak transcription	Placenta	Placenta
30	chr4:3898400-3898600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr4:3898400-3898600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:3898400-3898800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:3898600-3906400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:3903600-3904200	Enhancers	NHDF-Ad	bronchial
35	chr4:3903600-3904800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:3903800-3904200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:3903800-3904200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:3904200-3905000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:3904200-3906400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:3904200-3906400	Weak transcription	NHDF-Ad	bronchial
41	chr4:3904800-3905600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:3905000-3905200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:3905000-3905200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:3905000-3906400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr4:3905000-3907200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:3905200-3906400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:3905200-3907200	Enhancers	Osteobl	bone
48	chr4:3905200-3913000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:3905600-3906400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:3905600-3906400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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