Variant report

Variant	nsv1003892
Chromosome Location	chr4:78233856-78255427
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr4:78253746-78254319	HCT-116	colon:	n/a	n/a
2	CBX3	chr4:78253883-78254139	K562	blood:	n/a	n/a
3	CBX3	chr4:78253824-78254202	K562	blood:	n/a	n/a
4	CHD2	chr4:78254095-78254505	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr4:78238320-78238470	HEEpiC	esophagus:	n/a	n/a
6	CTCF	chr4:78253184-78253229	LNCaP	prostate:	n/a	n/a
7	CTCF	chr4:78241258-78241287	GM10248	blood:	n/a	n/a
8	CTCF	chr4:78241225-78241257	GM10248	blood:	n/a	n/a
9	E2F6	chr4:78254094-78254371	H1-hESC	embryonic stem cell:	n/a	n/a
10	E2F6	chr4:78253984-78254378	H1-hESC	embryonic stem cell:	n/a	n/a
11	EBF1	chr4:78235685-78235691	GM12878	blood:	n/a	n/a
12	EP300	chr4:78254018-78254305	H1-hESC	embryonic stem cell:	n/a	n/a
13	FOXA2	chr4:78248247-78248550	A549	lung:	n/a	n/a
14	JUN	chr4:78251194-78251196	H1-hESC	embryonic stem cell:	n/a	n/a
15	KAP1	chr4:78253790-78254333	U2OS	brain:	n/a	n/a
16	KAP1	chr4:78253774-78254391	HEK293	kidney:	n/a	n/a
17	KAP1	chr4:78241475-78241778	K562	blood:	n/a	n/a
18	MAFF	chr4:78235878-78236206	HepG2	liver:	n/a	n/a
19	MAFK	chr4:78235882-78236208	HepG2	liver:	n/a	n/a
20	MAFK	chr4:78235879-78236214	HepG2	liver:	n/a	n/a
21	MAFK	chr4:78235884-78236190	IMR90	lung:	n/a	n/a
22	MAX	chr4:78254060-78254446	NB4	blood:	n/a	n/a
23	MAX	chr4:78254021-78254375	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr4:78254095-78254394	H1-hESC	embryonic stem cell:	n/a	n/a
25	MAX	chr4:78254037-78254398	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr4:78249419-78249511	MCF10A-Er-Src	breast:	n/a	n/a
27	MYC	chr4:78249466-78249579	MCF10A-Er-Src	breast:	n/a	n/a
28	MYC	chr4:78254052-78254356	NB4	blood:	n/a	n/a
29	POLR2A	chr4:78253575-78253996	U87	brain:	n/a	n/a
30	POLR2A	chr4:78252882-78253055	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr4:78253872-78254380	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr4:78253894-78254203	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr4:78253373-78254426	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr4:78254037-78254244	H1-hESC	embryonic stem cell:	n/a	n/a
35	RFX5	chr4:78255004-78255316	H1-hESC	embryonic stem cell:	n/a	n/a
36	SETDB1	chr4:78242486-78242716	U2OS	brain:	n/a	n/a
37	SETDB1	chr4:78253597-78254587	U2OS	brain:	n/a	n/a
38	SP1	chr4:78254034-78254432	H1-hESC	embryonic stem cell:	n/a	n/a
39	SRF	chr4:78254040-78254349	H1-hESC	embryonic stem cell:	n/a	n/a
40	SRF	chr4:78254016-78254352	ECC-1	luminal epithelium:	n/a	n/a
41	STAT3	chr4:78234712-78234863	MCF10A-Er-Src	breast:	n/a	n/a
42	TAF1	chr4:78253929-78254235	H1-hESC	embryonic stem cell:	n/a	n/a
43	TRIM28	chr4:78241524-78241677	K562	blood:	n/a	n/a
44	USF1	chr4:78253835-78254240	HCT-116	colon:	n/a	n/a
45	YY1	chr4:78248397-78248562	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78236163..78238480-chr4:78287943..78289669,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250006	TF binding region

Extended variants
information (count: 1101 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1101 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs960507	chr4:78233856-78233857	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531208200	chr4:78233858-78233859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553343807	chr4:78233868-78233869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565874218	chr4:78233892-78233893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534913689	chr4:78233926-78233927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28589297	chr4:78233938-78233939	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73827312	chr4:78233945-78233946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs74347498	chr4:78233949-78233950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565734319	chr4:78233961-78233962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28625840	chr4:78233963-78233964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs10518174	chr4:78233971-78233972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs570959756	chr4:78233976-78233977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13105866	chr4:78234066-78234067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536940728	chr4:78234084-78234085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141799802	chr4:78234089-78234090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573599406	chr4:78234116-78234117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13106073	chr4:78234124-78234125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542777131	chr4:78234159-78234160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191650418	chr4:78234175-78234176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573269072	chr4:78234196-78234197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17401343	chr4:78234197-78234198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565276602	chr4:78234217-78234218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576590269	chr4:78234234-78234235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17397262	chr4:78234279-78234280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs17401378	chr4:78234321-78234322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182993630	chr4:78234397-78234398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187665126	chr4:78234433-78234434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192444411	chr4:78234438-78234439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566981595	chr4:78234460-78234461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528189830	chr4:78234543-78234544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551102960	chr4:78234556-78234557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571021057	chr4:78234592-78234593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183515514	chr4:78234596-78234597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556558846	chr4:78234613-78234614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61329326	chr4:78234651-78234652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374888797	chr4:78234689-78234690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4859789	chr4:78234690-78234691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs546445047	chr4:78234698-78234699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573000243	chr4:78234704-78234705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58712578	chr4:78234737-78234738	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs79080353	chr4:78234742-78234743	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs4859790	chr4:78234762-78234763	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs544585268	chr4:78234810-78234811	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs562464636	chr4:78234813-78234814	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs142845985	chr4:78234825-78234826	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs151065718	chr4:78234843-78234844	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs529697599	chr4:78234846-78234847	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs532558539	chr4:78234847-78234848	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs376010494	chr4:78234860-78234861	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs4859791	chr4:78234861-78234862	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78233200-78240600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:78240600-78241200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:78241200-78251400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:78252800-78254000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:78253400-78254800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr4:78255400-78256400	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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