Variant report

Variant	esv3422985
Chromosome Location	chr4:132642402-132649700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:795)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr4:132643327-132643727	GM12878	blood:	n/a	n/a
2	CCNT2	chr4:132646067-132646366	K562	blood:	n/a	n/a
3	CHD2	chr4:132646065-132646272	Hela-S3	cervix:	n/a	n/a
4	CHD2	chr4:132646072-132646353	GM12878	blood:	n/a	n/a
5	E2F6	chr4:132646712-132646865	K562	blood:	n/a	n/a
6	ESR1	chr4:132646144-132646379	T-47D	breast:	n/a	n/a
7	HEY1	chr4:132648601-132648997	K562	blood:	n/a	n/a
8	HEY1	chr4:132648596-132649072	HepG2	liver:	n/a	n/a
9	HEY1	chr4:132646146-132646336	HepG2	liver:	n/a	n/a
10	HEY1	chr4:132646169-132646415	K562	blood:	n/a	n/a
11	HEY1	chr4:132648681-132648865	K562	blood:	n/a	n/a
12	JUND	chr4:132642970-132643176	HepG2	liver:	n/a	n/a
13	JUND	chr4:132646170-132646446	A549	lung:	n/a	n/a
14	MAX	chr4:132646710-132646923	K562	blood:	n/a	n/a
15	MAX	chr4:132646229-132646270	Hela-S3	cervix:	n/a	n/a
16	MAX	chr4:132646753-132646855	K562	blood:	n/a	n/a
17	MAX	chr4:132646236-132646273	GM12878	blood:	n/a	n/a
18	MAZ	chr4:132646241-132646260	K562	blood:	n/a	n/a
19	MEF2A	chr4:132643353-132643641	GM12878	blood:	n/a	n/a
20	NFIC	chr4:132643244-132643633	GM12878	blood:	n/a	n/a
21	NRF1	chr4:132646059-132646277	GM12878	blood:	n/a	n/a
22	NRF1	chr4:132646069-132646270	H1-hESC	embryonic stem cell:	n/a	n/a
23	NRF1	chr4:132646152-132646327	SK-N-SH	brain:	n/a	n/a
24	PBX3	chr4:132642929-132643072	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:132646074-132646393	K562	blood:	n/a	n/a
26	POLR2A	chr4:132646035-132646433	K562	blood:	n/a	n/a
27	POLR2A	chr4:132646187-132646332	A549	lung:	n/a	n/a
28	POLR2A	chr4:132646180-132646358	GM12878	blood:	n/a	n/a
29	POLR2A	chr4:132646237-132646372	MCF-7	breast:	n/a	n/a
30	POLR2A	chr4:132646079-132646362	K562	blood:	n/a	n/a
31	POLR2A	chr4:132646169-132646321	GM12878	blood:	n/a	n/a
32	POLR2A	chr4:132648692-132648837	A549	lung:	n/a	n/a
33	POLR2A	chr4:132648692-132648849	A549	lung:	n/a	n/a
34	POLR2A	chr4:132648876-132649018	A549	lung:	n/a	n/a
35	POLR2A	chr4:132646180-132646341	HepG2	liver:	n/a	n/a
36	POLR2A	chr4:132646086-132646356	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr4:132646163-132646329	A549	lung:	n/a	n/a
38	POLR2A	chr4:132646027-132646527	K562	blood:	n/a	n/a
39	POLR2A	chr4:132646112-132646399	HepG2	liver:	n/a	n/a
40	POLR2A	chr4:132646069-132646433	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr4:132648696-132649062	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr4:132648555-132649091	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:132646233-132646409	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr4:132646177-132646426	MCF-7	breast:	n/a	n/a
45	POLR2A	chr4:132646230-132646458	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr4:132646169-132646311	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr4:132646236-132646390	MCF-7	breast:	n/a	n/a
48	POLR2A	chr4:132646073-132646442	Raji	blood:	n/a	n/a
49	POLR2A	chr4:132648580-132648806	Gliobla	brain:	n/a	n/a
50	POLR2A	chr4:132646197-132646293	HepG2	liver:	n/a	n/a

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132649479-132649529	SK-N-SH	brain:	n/a
2	chr4:132647023-132647073	U87	brain:	n/a
3	chr4:132649479-132649529	SK-N-SH	brain:	n/a
4	chr4:132647023-132647073	U87	brain:	n/a
5	chr4:132647023-132647073	Hela-S3	cervix:	n/a
6	chr4:132649229-132649279	RPTEC	kidney:	n/a
7	chr4:132644348-132644398	Caco-2	colon:	n/a
8	chr4:132645884-132645934	ovcar-3	ovarian:	n/a
9	chr4:132649229-132649279	Hepatocyte	liver:	n/a
10	chr4:132647023-132647073	T-47D	breast:	n/a
11	chr4:132649229-132649279	HepG2	liver:	n/a
12	chr4:132649479-132649529	HNPCEpiC	eye:	n/a
13	chr4:132649551-132649601	HNPCEpiC	eye:	n/a
14	chr4:132647121-132647171	Hepatocyte	liver:	n/a
15	chr4:132642641-132642691	GM12891	blood:	n/a
16	chr4:132645884-132645934	HRPEpiC	eye:	n/a
17	chr4:132644348-132644398	BE2_C	brain:	n/a
18	chr4:132649229-132649279	GM12892	blood:	n/a
19	chr4:132649551-132649601	HCT-116	colon:	n/a
20	chr4:132644348-132644398	GM12892	blood:	n/a
21	chr4:132649229-132649279	HCF	heart:	n/a
22	chr4:132647121-132647171	HEEpiC	esophagus:	n/a
23	chr4:132642641-132642691	AG09309	skin:	n/a
24	chr4:132649479-132649529	HRE	kidney:	n/a
25	chr4:132645884-132645934	MCF10A-Er-Src	breast:	n/a
26	chr4:132643925-132643975	Hela-S3	cervix:	n/a
27	chr4:132649229-132649279	GM19239	blood:	n/a
28	chr4:132649229-132649279	HL-60	blood:	n/a
29	chr4:132646360-132646410	HEK293	kidney:	embryo
30	chr4:132643925-132643975	GM12878	blood:	n/a
31	chr4:132648785-132648835	AG09309	skin:	n/a
32	chr4:132642641-132642691	AG04449	skin:	fetal
33	chr4:132647121-132647171	GM12878	blood:	n/a
34	chr4:132642641-132642691	AG10803	skin:	n/a
35	chr4:132645884-132645934	HMEC	breast:	n/a
36	chr4:132647023-132647073	ovcar-3	ovarian:	n/a
37	chr4:132647023-132647073	HNPCEpiC	eye:	n/a
38	chr4:132648785-132648835	MCF-7	breast:	n/a
39	chr4:132642641-132642691	AG04450	lung:	fetal
40	chr4:132644348-132644398	ECC-1	luminal epithelium:	n/a
41	chr4:132646574-132646624	H1-hESC	embryonic stem cell:	embryo
42	chr4:132647121-132647171	HRE	kidney:	n/a
43	chr4:132649479-132649529	GM06990	blood:	n/a
44	chr4:132649229-132649279	GM06990	blood:	n/a
45	chr4:132643925-132643975	AG04449	skin:	fetal
46	chr4:132648785-132648835	HEEpiC	esophagus:	n/a
47	chr4:132649551-132649601	BE2_C	brain:	n/a
48	chr4:132643925-132643975	MCF-7	breast:	n/a
49	chr4:132646574-132646624	HRCEpiC	kidney:	n/a
50	chr4:132643925-132643975	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
RN7SL205P	TF binding region
RN7SL205P	CpG island

Extended variants
information (count: 497 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549498267	chr4:132642642-132642643	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs148299003	chr4:132642644-132642645	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs376705928	chr4:132642679-132642680	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs567725820	chr4:132642874-132642875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs35783481	chr4:132642883-132642884	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs75341453	chr4:132642892-132642893	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs565545677	chr4:132642893-132642894	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs557167239	chr4:132642899-132642900	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs534472433	chr4:132642903-132642904	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200687384	chr4:132642908-132642909	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs544470177	chr4:132642932-132642933	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs190604399	chr4:132642936-132642937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs528958187	chr4:132642972-132642973	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs542728118	chr4:132642976-132642977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs559048999	chr4:132642977-132642978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs78464716	chr4:132642978-132642979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs554262412	chr4:132643038-132643039	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs4863849	chr4:132643039-132643040	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs200412922	chr4:132643082-132643083	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs571561053	chr4:132643119-132643120	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs182916163	chr4:132643125-132643126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs57077437	chr4:132643151-132643152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs28782861	chr4:132643180-132643181	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188317617	chr4:132643189-132643190	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs192204281	chr4:132643202-132643203	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs553441782	chr4:132643231-132643232	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs566481978	chr4:132643260-132643261	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs538646065	chr4:132643278-132643279	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs13434514	chr4:132643282-132643283	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs575516044	chr4:132643291-132643292	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs544916144	chr4:132643303-132643304	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs111713745	chr4:132643309-132643310	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs554836981	chr4:132643340-132643341	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs182855222	chr4:132643357-132643358	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs542314989	chr4:132643370-132643371	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs539708550	chr4:132643407-132643408	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs539739439	chr4:132643411-132643412	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs112816007	chr4:132643413-132643414	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs187713548	chr4:132643421-132643422	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs545009130	chr4:132643446-132643447	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs564903873	chr4:132643458-132643459	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs530800011	chr4:132643519-132643520	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs550870659	chr4:132643523-132643524	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs113164698	chr4:132643534-132643535	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs200066894	chr4:132643560-132643561	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs529903673	chr4:132643568-132643569	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs373118068	chr4:132643570-132643571	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs546525954	chr4:132643594-132643595	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs566618425	chr4:132643596-132643597	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs538783083	chr4:132643609-132643610	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
small cell lung cancer	20016488	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	19492091	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132643200-132644000	Enhancers	GM12878-XiMat	blood
2	chr4:132643400-132643600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:132643600-132644000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:132643800-132646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:132644000-132644200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:132645800-132646800	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr4:132646000-132646400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:132646000-132646400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:132646000-132646400	Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr4:132646000-132646400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr4:132646000-132646400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:132646000-132646400	Active TSS	Ovary	ovary
13	chr4:132646000-132646400	Active TSS	Stomach Smooth Muscle	stomach
14	chr4:132646000-132647000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:132646200-132646400	ZNF genes & repeats	Gastric	stomach
16	chr4:132646200-132646400	Active TSS	Right Ventricle	heart
17	chr4:132646200-132646600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr4:132648200-132649200	Active TSS	HMEC	breast

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