Variant report

Variant	nsv878670
Chromosome Location	chr4:9563294-9651413
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:361)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:9605857-9606056	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr4:9605704-9606128	GM12878	blood:	n/a	n/a
3	BATF	chr4:9637521-9637725	GM12878	blood:	n/a	n/a
4	BATF	chr4:9609924-9610228	GM12878	blood:	n/a	n/a
5	BATF	chr4:9582818-9583030	GM12878	blood:	n/a	n/a
6	BATF	chr4:9609959-9610276	GM12878	blood:	n/a	n/a
7	BATF	chr4:9606281-9606749	GM12878	blood:	n/a	n/a
8	BATF	chr4:9606359-9606745	GM12878	blood:	n/a	n/a
9	BATF	chr4:9582796-9583040	GM12878	blood:	n/a	n/a
10	BCL11A	chr4:9606478-9606683	GM12878	blood:	n/a	n/a
11	BCL11A	chr4:9637557-9637806	GM12878	blood:	n/a	n/a
12	BCL11A	chr4:9606348-9606693	GM12878	blood:	n/a	n/a
13	BCL11A	chr4:9605814-9606174	GM12878	blood:	n/a	n/a
14	BCL11A	chr4:9609991-9610319	GM12878	blood:	n/a	n/a
15	BCL11A	chr4:9609970-9610277	GM12878	blood:	n/a	n/a
16	BCL11A	chr4:9605779-9606088	GM12878	blood:	n/a	n/a
17	CBX3	chr4:9597420-9597667	K562	blood:	n/a	n/a
18	CEBPB	chr4:9637488-9637693	HepG2	liver:	n/a	chr4:9637617-9637628
19	CEBPB	chr4:9585906-9586106	HepG2	liver:	n/a	chr4:9585991-9586002
20	CEBPB	chr4:9596784-9597029	HepG2	liver:	n/a	chr4:9596883-9596894
21	CEBPB	chr4:9600979-9601222	K562	blood:	n/a	n/a
22	CEBPB	chr4:9639784-9639891	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr4:9608408-9608590	K562	blood:	n/a	n/a
24	CEBPB	chr4:9605743-9605929	HepG2	liver:	n/a	n/a
25	CEBPB	chr4:9629876-9630149	HepG2	liver:	n/a	chr4:9630037-9630048
26	CEBPD	chr4:9608329-9608642	K562	blood:	n/a	n/a
27	CHD1	chr4:9613391-9613550	GM12878	blood:	n/a	n/a
28	CTCF	chr4:9579780-9579930	BJ	skin:	n/a	n/a
29	CTCF	chr4:9579680-9579830	HBMEC	blood vessel:	n/a	n/a
30	CTCF	chr4:9579580-9579730	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr4:9637312-9637827	A549	lung:	n/a	chr4:9637378-9637386
32	CTCF	chr4:9579600-9579750	RPTEC	kidney:	n/a	n/a
33	CTCF	chr4:9579580-9579730	K562	blood:	n/a	n/a
34	CTCF	chr4:9624795-9624905	K562	blood:	n/a	n/a
35	CTCF	chr4:9579560-9579710	HEK293	kidney:	n/a	n/a
36	CTCF	chr4:9579540-9579690	GM12867	blood:	n/a	n/a
37	CTCF	chr4:9579540-9579690	SAEC	small airway:	n/a	n/a
38	CTCF	chr4:9605370-9605425	LNCaP	prostate:	n/a	n/a
39	CTCF	chr4:9579560-9579710	HMF	breast:	n/a	n/a
40	CTCF	chr4:9637440-9637744	K562	blood:	n/a	n/a
41	CTCF	chr4:9579602-9579739	GM19238	blood:	n/a	n/a
42	CTCF	chr4:9579840-9579990	NB4	blood:	n/a	n/a
43	CTCF	chr4:9579580-9579730	BE2_C	brain:	n/a	n/a
44	CTCF	chr4:9587610-9587720	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr4:9579540-9579690	GM12868	blood:	n/a	n/a
46	CTCF	chr4:9579513-9579773	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr4:9579690-9579725	GM10248	blood:	n/a	n/a
48	CTCF	chr4:9594501-9594781	A549	lung:	n/a	n/a
49	CTCF	chr4:9579560-9579710	BJ	skin:	n/a	n/a
50	CTCF	chr4:9579560-9579710	GM12864	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:9604187-9604237	H1-hESC	embryonic stem cell:	embryo
2	chr4:9604780-9604830	HCT-116	colon:	n/a
3	chr4:9604877-9604927	GM12892	blood:	n/a
4	chr4:9604780-9604830	MCF-7	breast:	n/a
5	chr4:9604432-9604482	SK-N-SH_RA	brain:	n/a
6	chr4:9601996-9602046	HCPEpiC	choroid plexus:	n/a
7	chr4:9604432-9604482	NH-A	brain:	n/a
8	chr4:9601996-9602046	AG09319	gingival:	n/a
9	chr4:9604780-9604830	HepG2	liver:	n/a
10	chr4:9604340-9604390	BE2_C	brain:	n/a
11	chr4:9604877-9604927	IMR90	lung:	fetal
12	chr4:9604432-9604482	AoSMC	blood vessel:	n/a
13	chr4:9601996-9602046	Hela-S3	cervix:	n/a
14	chr4:9604340-9604390	IMR90	lung:	fetal
15	chr4:9604780-9604830	HCM	heart:	n/a
16	chr4:9604187-9604237	HEEpiC	esophagus:	n/a
17	chr4:9602138-9602188	HRCEpiC	kidney:	n/a
18	chr4:9601996-9602046	HIPEpiC	eye:	n/a
19	chr4:9604432-9604482	CMK	blood:	n/a
20	chr4:9604877-9604927	PFSK-1	brain:	n/a
21	chr4:9601996-9602046	GM12891	blood:	n/a
22	chr4:9604432-9604482	HIPEpiC	eye:	n/a
23	chr4:9604340-9604390	NT2-D1	testis:	n/a
24	chr4:9601996-9602046	GM12878	blood:	n/a
25	chr4:9601996-9602046	HMEC	breast:	n/a
26	chr4:9604187-9604237	PFSK-1	brain:	n/a
27	chr4:9604780-9604830	NB4	blood:	n/a
28	chr4:9604340-9604390	MCF10A-Er-Src	breast:	n/a
29	chr4:9601996-9602046	RPTEC	kidney:	n/a
30	chr4:9604877-9604927	HepG2	liver:	n/a
31	chr4:9601996-9602046	GM19239	blood:	n/a
32	chr4:9604187-9604237	GM12891	blood:	n/a
33	chr4:9604780-9604830	HEEpiC	esophagus:	n/a
34	chr4:9604340-9604390	AoSMC	blood vessel:	n/a
35	chr4:9604340-9604390	GM12892	blood:	n/a
36	chr4:9604340-9604390	HUVEC	blood vessel:	n/a
37	chr4:9604780-9604830	BE2_C	brain:	n/a
38	chr4:9604340-9604390	PrEC	prostate:	n/a
39	chr4:9604877-9604927	NHBE	bronchial:	n/a
40	chr4:9604877-9604927	AG09309	skin:	n/a
41	chr4:9602138-9602188	HCF	heart:	n/a
42	chr4:9604340-9604390	HEEpiC	esophagus:	n/a
43	chr4:9604780-9604830	SK-N-SH_RA	brain:	n/a
44	chr4:9604432-9604482	A549	lung:	n/a
45	chr4:9602138-9602188	GM06990	blood:	n/a
46	chr4:9604877-9604927	HL-60	blood:	n/a
47	chr4:9604780-9604830	Hepatocyte	liver:	n/a
48	chr4:9602138-9602188	A549	lung:	n/a
49	chr4:9604432-9604482	HCT-116	colon:	n/a
50	chr4:9601996-9602046	PFSK-1	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000249799	TF binding region
ENSG00000244004	TF binding region
ENSG00000265901	TF binding region
ENSG00000249799	CpG island
ENSG00000244004	CpG island
ENSG00000265901	CpG island

Extended variants
information (count: 6434 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:6434 , 50 per page) page: 1 2 3 4 5 6 7 ... 129

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529611656	chr4:9563803-9563804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559493628	chr4:9563815-9563816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200064639	chr4:9563820-9563821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369771240	chr4:9563822-9563823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568876558	chr4:9563828-9563829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527830939	chr4:9563848-9563849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557781319	chr4:9563856-9563857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566597297	chr4:9563862-9563863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533839818	chr4:9563917-9563918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13131681	chr4:9563930-9563931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs375193094	chr4:9563941-9563942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368333074	chr4:9563959-9563960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372923116	chr4:9563972-9563973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185888139	chr4:9563998-9563999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374510261	chr4:9564013-9564014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190211083	chr4:9564049-9564050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530254136	chr4:9564053-9564054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556227350	chr4:9564061-9564062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577513218	chr4:9564070-9564071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139553360	chr4:9564105-9564106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371366006	chr4:9564113-9564114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564123142	chr4:9564127-9564128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528578584	chr4:9564128-9564129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181017229	chr4:9564133-9564134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145069313	chr4:9564137-9564138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529425344	chr4:9564159-9564160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113097667	chr4:9564161-9564162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147564508	chr4:9564163-9564164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140655694	chr4:9564184-9564185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537864988	chr4:9564201-9564202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533643751	chr4:9564212-9564213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186008259	chr4:9564224-9564225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566450608	chr4:9564228-9564229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533892744	chr4:9564263-9564264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555131454	chr4:9564277-9564278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567346436	chr4:9564285-9564286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537698068	chr4:9564307-9564308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374684106	chr4:9564309-9564310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549737068	chr4:9564322-9564323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556302427	chr4:9564332-9564333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28733833	chr4:9564338-9564339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs145609732	chr4:9564351-9564352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557751458	chr4:9564353-9564354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572853092	chr4:9564358-9564359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192042162	chr4:9564374-9564375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145451014	chr4:9564377-9564378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374683278	chr4:9564402-9564403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112166230	chr4:9564464-9564465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6448816	chr4:9564484-9564485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs183927393	chr4:9564493-9564494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	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
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9563800-9575800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:9569200-9572600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:9579600-9582200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:9583000-9584400	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr4:9583200-9584200	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr4:9583400-9586400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr4:9583600-9583800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:9583800-9596200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:9584200-9584400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr4:9584400-9585400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr4:9584400-9585800	Enhancers	Colonic Mucosa	Colon
12	chr4:9584400-9586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:9584600-9585400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:9585600-9605400	Weak transcription	Fetal Brain Male	brain
15	chr4:9586000-9586200	Enhancers	Fetal Intestine Small	intestine
16	chr4:9586000-9586200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr4:9586000-9586200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr4:9586200-9597400	Weak transcription	Fetal Intestine Small	intestine
19	chr4:9594000-9594200	ZNF genes & repeats	Fetal Thymus	thymus
20	chr4:9594200-9596800	Weak transcription	Fetal Thymus	thymus
21	chr4:9594800-9603400	Weak transcription	Fetal Lung	lung
22	chr4:9595200-9605600	Weak transcription	Ovary	ovary
23	chr4:9595400-9603400	Weak transcription	Primary T cells from cord blood	blood
24	chr4:9596200-9596800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
25	chr4:9596200-9597200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:9596400-9597200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr4:9596600-9597000	Enhancers	Thymus	Thymus
28	chr4:9596600-9597600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr4:9596600-9597600	Enhancers	Stomach Mucosa	stomach
30	chr4:9596600-9600800	Weak transcription	Fetal Intestine Large	intestine
31	chr4:9596800-9597600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr4:9596800-9600400	Enhancers	Fetal Thymus	thymus
33	chr4:9597000-9597200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr4:9597200-9599600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:9597400-9597800	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr4:9597600-9597800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr4:9597600-9605000	Weak transcription	Stomach Mucosa	stomach
38	chr4:9597800-9600800	Weak transcription	Fetal Intestine Small	intestine
39	chr4:9598600-9598800	Enhancers	Small Intestine	intestine
40	chr4:9598800-9603400	Weak transcription	Small Intestine	intestine
41	chr4:9598800-9605400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:9599000-9600600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:9599600-9600000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:9599800-9600000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr4:9599800-9601000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr4:9600000-9600800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:9600000-9602400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr4:9600400-9600800	Weak transcription	Fetal Thymus	thymus
49	chr4:9600600-9602200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:9600800-9601000	Enhancers	H9 Cell Line	embryonic stem cell

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