Variant report

Variant	nsv4280
Chromosome Location	chr4:27124809-27169850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:264)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:27124601-27125687	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF3	chr4:27124744-27125113	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr4:27124703-27125576	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr4:27125207-27125461	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL11A	chr4:27124708-27124931	GM12878	blood:	n/a	n/a
6	BRCA1	chr4:27156313-27156350	H1-hESC	embryonic stem cell:	n/a	n/a
7	CBX3	chr4:27124569-27125073	HCT-116	colon:	n/a	n/a
8	CEBPB	chr4:27166746-27167046	IMR90	lung:	n/a	chr4:27166890-27166901
9	CEBPB	chr4:27147419-27147605	HepG2	liver:	n/a	chr4:27147465-27147478 chr4:27147466-27147477 chr4:27147465-27147476
10	CEBPB	chr4:27124728-27125470	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr4:27166727-27167070	HepG2	liver:	n/a	chr4:27166890-27166901
12	CEBPB	chr4:27128501-27128945	ECC-1	luminal epithelium:	n/a	n/a
13	CHD1	chr4:27124603-27125155	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr4:27124718-27125659	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr4:27124754-27125562	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr4:27139960-27140110	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr4:27129536-27129578	MCF-7	breast:	n/a	chr4:27129558-27129576 chr4:27129560-27129573
18	CTCF	chr4:27148206-27148280	LNCaP	prostate:	n/a	n/a
19	CTCF	chr4:27140020-27140170	NHEK	skin:	n/a	n/a
20	CTCF	chr4:27139911-27140096	K562	blood:	n/a	n/a
21	CTCF	chr4:27139980-27140130	MCF-7	breast:	n/a	n/a
22	CTCF	chr4:27140003-27140072	Pancreas_OC	pancreas:	n/a	n/a
23	CTCF	chr4:27139948-27140110	LNCaP	prostate:	n/a	n/a
24	CTCF	chr4:27139760-27139910	BJ	skin:	n/a	n/a
25	CTCF	chr4:27139940-27140090	AG09309	skin:	n/a	n/a
26	CTCF	chr4:27139988-27140090	K562	blood:	n/a	n/a
27	CTCF	chr4:27139940-27140090	HBMEC	blood vessel:	n/a	n/a
28	CTCF	chr4:27140020-27140170	HMEC	breast:	n/a	n/a
29	CTCF	chr4:27140000-27140150	NHEK	skin:	n/a	n/a
30	CTCF	chr4:27148242-27148273	MCF-7	breast:	n/a	n/a
31	CTCF	chr4:27139960-27140110	HMF	breast:	n/a	n/a
32	CTCF	chr4:27139860-27140010	AoAF	blood vessel:	n/a	n/a
33	CTCF	chr4:27129531-27129615	LNCaP	prostate:	n/a	chr4:27129558-27129576 chr4:27129560-27129573
34	CTCF	chr4:27139900-27140050	AG09309	skin:	n/a	n/a
35	CTCF	chr4:27139920-27140070	HMF	breast:	n/a	n/a
36	CTCF	chr4:27140421-27140447	GM13976	blood:	n/a	n/a
37	CTCF	chr4:27139923-27140143	MCF-7	breast:	n/a	n/a
38	CTCF	chr4:27140022-27140046	Fibrobl	skin:	n/a	n/a
39	CTCF	chr4:27139999-27140055	LNCaP	prostate:	n/a	n/a
40	CTCF	chr4:27139940-27140090	MCF-7	breast:	n/a	n/a
41	CTCF	chr4:27139992-27140087	ProgFib	skin:	n/a	n/a
42	CTCF	chr4:27156460-27156610	BJ	skin:	n/a	n/a
43	CTCF	chr4:27139825-27140275	MCF-7	breast:	n/a	n/a
44	CTCF	chr4:27139918-27140116	MCF-7	breast:	n/a	n/a
45	CUX1	chr4:27165647-27165706	K562	blood:	n/a	n/a
46	E2F4	chr4:27151534-27151748	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F6	chr4:27125177-27125844	H1-hESC	embryonic stem cell:	n/a	n/a
48	EBF1	chr4:27131358-27131868	GM12878	blood:	n/a	chr4:27131652-27131663
49	EP300	chr4:27128060-27129147	ECC-1	luminal epithelium:	n/a	n/a
50	EP300	chr4:27143772-27144360	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:27155585..27157127-chr4:27168690..27170508,2	MCF-7	breast:
2	chr4:27152816..27154436-chr4:27157678..27159190,2	K562	blood:
3	chr4:27166205..27167833-chr4:27169685..27171286,2	MCF-7	breast:
4	chr4:27123166..27125780-chr4:27126657..27128387,2	MCF-7	breast:
5	chr4:27152816..27154436-chr4:27157678..27159190,2	K562	blood:
6	chr4:27103222..27105032-chr4:27162625..27164516,2	MCF-7	breast:
7	chr4:27124853..27127254-chr4:27135739..27137834,2	MCF-7	breast:
8	chr4:27165027..27166936-chr4:27167907..27170268,2	MCF-7	breast:
9	chr4:27166205..27167833-chr4:27169685..27171286,2	MCF-7	breast:
10	chr4:27123166..27125780-chr4:27126657..27128387,2	MCF-7	breast:
11	chr4:27124853..27127254-chr4:27135739..27137834,2	MCF-7	breast:
12	chr4:27040386..27041965-chr4:27168487..27170290,2	MCF-7	breast:
13	chr4:27155585..27157127-chr4:27168690..27170508,2	MCF-7	breast:
14	chr4:27165027..27166936-chr4:27167907..27170268,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCKAR-2	chr4:27135618-27135852	XLOC_003913
2	lnc-CCKAR-2	chr4:27141589-27141673	XLOC_003913
3	lnc-CCKAR-2	chr4:27139907-27140068	XLOC_003913

No data

Variant related genes	Relation type
ENSG00000251080	TF binding region
ELK3	miRNA target sites
RBM15	miRNA target sites
BRWD1	miRNA target sites

Extended variants
information (count: 1431 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1431 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78231387	chr4:27124860-27124861	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552022319	chr4:27124872-27124873	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188186791	chr4:27124888-27124889	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77098767	chr4:27124889-27124890	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138307504	chr4:27124893-27124894	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568197936	chr4:27124896-27124897	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140912213	chr4:27124923-27124924	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192356430	chr4:27124931-27124932	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537330915	chr4:27124947-27124948	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17635192	chr4:27124949-27124950	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115384453	chr4:27124960-27124961	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573164647	chr4:27125043-27125044	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184770196	chr4:27125049-27125050	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558069636	chr4:27125074-27125075	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10027736	chr4:27125152-27125153	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11944899	chr4:27125166-27125167	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs538656482	chr4:27125167-27125168	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189895861	chr4:27125212-27125213	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200315877	chr4:27125216-27125217	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542281567	chr4:27125255-27125256	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150192836	chr4:27125302-27125303	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528115571	chr4:27125323-27125324	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73253670	chr4:27125351-27125352	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7685249	chr4:27125382-27125383	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs531224941	chr4:27125400-27125401	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115528896	chr4:27125410-27125411	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs757632	chr4:27125477-27125478	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs138977208	chr4:27125482-27125483	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547101189	chr4:27125494-27125495	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77284011	chr4:27125557-27125558	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574959811	chr4:27125610-27125611	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544090274	chr4:27125618-27125619	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs34459404	chr4:27125635-27125636	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs558680841	chr4:27125659-27125660	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs369242002	chr4:27125693-27125694	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs10639513	chr4:27125694-27125695	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs386672778	chr4:27125695-27125696	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs202086873	chr4:27125696-27125697	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs374623575	chr4:27125697-27125698	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs35033380	chr4:27125707-27125708	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs7690624	chr4:27125795-27125796	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575309189	chr4:27125802-27125803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186308989	chr4:27125817-27125818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545839732	chr4:27125820-27125821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568666263	chr4:27125866-27125867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547933339	chr4:27125868-27125869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559432543	chr4:27125918-27125919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572841716	chr4:27125958-27125959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545035938	chr4:27125994-27125995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377643718	chr4:27126002-27126003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:27122600-27125600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:27122600-27125800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:27122600-27126600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:27122800-27125600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:27122800-27126800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:27122800-27126800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr4:27122800-27127200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr4:27123000-27126000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:27123000-27126400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:27123000-27127000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:27123200-27125000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:27123600-27126600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr4:27123800-27126600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:27123800-27126600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:27124200-27125800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr4:27124200-27126000	Enhancers	Fetal Intestine Large	intestine
17	chr4:27124400-27125200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr4:27124400-27125200	Enhancers	Colonic Mucosa	Colon
19	chr4:27124600-27125600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:27124600-27125600	Enhancers	Fetal Intestine Small	intestine
21	chr4:27124600-27125600	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr4:27124600-27125800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:27124600-27125800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:27124600-27129000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:27124800-27125000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr4:27124800-27125000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:27124800-27125000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:27124800-27125000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:27124800-27125000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr4:27124800-27125000	Enhancers	Small Intestine	intestine
31	chr4:27124800-27125200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:27124800-27125200	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr4:27124800-27125600	Enhancers	Duodenum Mucosa	Duodenum
34	chr4:27124800-27125800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:27124800-27125800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:27125000-27125200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr4:27125000-27125200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr4:27125000-27125200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr4:27125000-27125200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr4:27125000-27125400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:27125000-27125600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:27125000-27125800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:27125000-27128200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:27125200-27125400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr4:27125200-27125400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:27125200-27125600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr4:27125200-27125800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr4:27125200-27126200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr4:27125200-27126200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:27125400-27125600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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