Variant report

Variant	esv3378038
Chromosome Location	chr4:132646002-132649500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:488)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr4:132646067-132646366	K562	blood:	n/a	n/a
2	CHD2	chr4:132646065-132646272	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr4:132646072-132646353	GM12878	blood:	n/a	n/a
4	E2F6	chr4:132646712-132646865	K562	blood:	n/a	n/a
5	ESR1	chr4:132646144-132646379	T-47D	breast:	n/a	n/a
6	HEY1	chr4:132646146-132646336	HepG2	liver:	n/a	n/a
7	HEY1	chr4:132648596-132649072	HepG2	liver:	n/a	n/a
8	HEY1	chr4:132648681-132648865	K562	blood:	n/a	n/a
9	HEY1	chr4:132648601-132648997	K562	blood:	n/a	n/a
10	HEY1	chr4:132646169-132646415	K562	blood:	n/a	n/a
11	JUND	chr4:132646170-132646446	A549	lung:	n/a	n/a
12	MAX	chr4:132646710-132646923	K562	blood:	n/a	n/a
13	MAX	chr4:132646753-132646855	K562	blood:	n/a	n/a
14	MAX	chr4:132646236-132646273	GM12878	blood:	n/a	n/a
15	MAX	chr4:132646229-132646270	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr4:132646241-132646260	K562	blood:	n/a	n/a
17	NRF1	chr4:132646152-132646327	SK-N-SH	brain:	n/a	n/a
18	NRF1	chr4:132646059-132646277	GM12878	blood:	n/a	n/a
19	NRF1	chr4:132646069-132646270	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr4:132646116-132646448	A549	lung:	n/a	n/a
21	POLR2A	chr4:132648692-132648837	A549	lung:	n/a	n/a
22	POLR2A	chr4:132646180-132646341	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:132648555-132649091	GM12878	blood:	n/a	n/a
24	POLR2A	chr4:132646179-132646336	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr4:132646131-132646532	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:132646200-132646289	A549	lung:	n/a	n/a
27	POLR2A	chr4:132646233-132646409	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr4:132646229-132646433	HepG2	liver:	n/a	n/a
29	POLR2A	chr4:132648580-132648806	Gliobla	brain:	n/a	n/a
30	POLR2A	chr4:132646194-132646311	A549	lung:	n/a	n/a
31	POLR2A	chr4:132646086-132646356	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr4:132646112-132646399	HepG2	liver:	n/a	n/a
33	POLR2A	chr4:132646158-132646318	HCT-116	colon:	n/a	n/a
34	POLR2A	chr4:132646235-132646437	GM12878	blood:	n/a	n/a
35	POLR2A	chr4:132646187-132646332	A549	lung:	n/a	n/a
36	POLR2A	chr4:132648692-132648829	A549	lung:	n/a	n/a
37	POLR2A	chr4:132648694-132648833	HepG2	liver:	n/a	n/a
38	POLR2A	chr4:132648692-132648841	HepG2	liver:	n/a	n/a
39	POLR2A	chr4:132648895-132648987	A549	lung:	n/a	n/a
40	POLR2A	chr4:132646156-132646314	HCT-116	colon:	n/a	n/a
41	POLR2A	chr4:132646152-132646317	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr4:132646221-132646287	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:132646163-132646329	A549	lung:	n/a	n/a
44	POLR2A	chr4:132646236-132646390	MCF-7	breast:	n/a	n/a
45	POLR2A	chr4:132646230-132646458	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr4:132648650-132649120	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr4:132646102-132646468	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr4:132648535-132649106	A549	lung:	n/a	n/a
49	POLR2A	chr4:132646236-132646427	IMR90	lung:	n/a	n/a
50	POLR2A	chr4:132646244-132646359	Gliobla	brain:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132647023-132647073	Jurkat	blood:	n/a
2	chr4:132646574-132646624	MCF10A-Er-Src	breast:	n/a
3	chr4:132646360-132646410	CMK	blood:	n/a
4	chr4:132647861-132647911	HRPEpiC	eye:	n/a
5	chr4:132646360-132646410	RPTEC	kidney:	n/a
6	chr4:132649229-132649279	HIPEpiC	eye:	n/a
7	chr4:132646360-132646410	LNCaP	prostate:	n/a
8	chr4:132647121-132647171	HUVEC	blood vessel:	n/a
9	chr4:132647861-132647911	SK-N-SH_RA	brain:	n/a
10	chr4:132646360-132646410	PANC-1	pancreas:	n/a
11	chr4:132649479-132649529	RPTEC	kidney:	n/a
12	chr4:132648785-132648835	AG04450	lung:	fetal
13	chr4:132649229-132649279	HEK293	kidney:	embryo
14	chr4:132646360-132646410	HRCEpiC	kidney:	n/a
15	chr4:132648785-132648835	SAEC	small airway:	n/a
16	chr4:132647023-132647073	HCM	heart:	n/a
17	chr4:132647121-132647171	Hepatocyte	liver:	n/a
18	chr4:132648785-132648835	ECC-1	luminal epithelium:	n/a
19	chr4:132647023-132647073	AG04450	lung:	fetal
20	chr4:132646360-132646410	HRPEpiC	eye:	n/a
21	chr4:132647861-132647911	HL-60	blood:	n/a
22	chr4:132647023-132647073	SKMC	muscle:	n/a
23	chr4:132648785-132648835	PANC-1	pancreas:	n/a
24	chr4:132647861-132647911	AG04449	skin:	fetal
25	chr4:132647121-132647171	SK-N-SH_RA	brain:	n/a
26	chr4:132648785-132648835	RPTEC	kidney:	n/a
27	chr4:132647861-132647911	HUVEC	blood vessel:	n/a
28	chr4:132648785-132648835	AoSMC	blood vessel:	n/a
29	chr4:132647121-132647171	HPAEpiC	pulmonary alveolar:	n/a
30	chr4:132648785-132648835	PFSK-1	brain:	n/a
31	chr4:132646360-132646410	IMR90	lung:	fetal
32	chr4:132647121-132647171	NB4	blood:	n/a
33	chr4:132648785-132648835	SKMC	muscle:	n/a
34	chr4:132647861-132647911	CMK	blood:	n/a
35	chr4:132646360-132646410	NHDF-neo	bronchial:	n/a
36	chr4:132647121-132647171	HepG2	liver:	n/a
37	chr4:132646574-132646624	Hepatocyte	liver:	n/a
38	chr4:132646574-132646624	PrEC	prostate:	n/a
39	chr4:132647023-132647073	Hepatocyte	liver:	n/a
40	chr4:132647121-132647171	AoSMC	blood vessel:	n/a
41	chr4:132647023-132647073	LNCaP	prostate:	n/a
42	chr4:132647861-132647911	PANC-1	pancreas:	n/a
43	chr4:132647023-132647073	NHDF-neo	bronchial:	n/a
44	chr4:132649229-132649279	Hepatocyte	liver:	n/a
45	chr4:132647861-132647911	HCM	heart:	n/a
46	chr4:132649479-132649529	HEK293	kidney:	embryo
47	chr4:132647121-132647171	GM12878	blood:	n/a
48	chr4:132646360-132646410	HCM	heart:	n/a
49	chr4:132648785-132648835	GM12891	blood:	n/a
50	chr4:132647023-132647073	HEEpiC	esophagus:	n/a

No data

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

Extended variants
information (count: 260 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371603311	chr4:132646028-132646029	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs74577249	chr4:132646031-132646032	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs111627464	chr4:132646044-132646045	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558025026	chr4:132646061-132646062	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs571633929	chr4:132646064-132646065	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs368769738	chr4:132646066-132646067	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs537577467	chr4:132646074-132646075	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs557043383	chr4:132646082-132646083	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs573992862	chr4:132646086-132646087	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs572764458	chr4:132646089-132646090	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs553249868	chr4:132646096-132646097	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs573243179	chr4:132646098-132646099	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs369547061	chr4:132646103-132646104	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs545181371	chr4:132646104-132646105	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs79702588	chr4:132646116-132646117	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs71633781	chr4:132646122-132646123	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs532862487	chr4:132646124-132646125	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs372311337	chr4:132646146-132646147	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs375904283	chr4:132646148-132646149	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs370009870	chr4:132646159-132646160	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs372688574	chr4:132646160-132646161	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs377382832	chr4:132646168-132646169	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs142017090	chr4:132646207-132646208	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs369396436	chr4:132646217-132646218	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs180893610	chr4:132646222-132646223	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs528884215	chr4:132646239-132646240	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs554863674	chr4:132646249-132646250	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs79789142	chr4:132646255-132646256	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs565968239	chr4:132646262-132646263	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs370843240	chr4:132646272-132646273	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs199843385	chr4:132646277-132646278	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs375063389	chr4:132646279-132646280	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs111556283	chr4:132646285-132646286	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs574931649	chr4:132646294-132646295	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs543161609	chr4:132646296-132646297	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs200601374	chr4:132646301-132646302	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs563008866	chr4:132646306-132646307	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs551579227	chr4:132646312-132646313	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs184594168	chr4:132646315-132646316	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs148363168	chr4:132646323-132646324	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs537115417	chr4:132646328-132646329	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs545371803	chr4:132646330-132646331	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs559257012	chr4:132646331-132646332	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs536237279	chr4:132646333-132646334	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs190640971	chr4:132646339-132646340	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs79387714	chr4:132646343-132646344	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs181493182	chr4:132646354-132646355	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs558852976	chr4:132646357-132646358	Active TSS ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs575806509	chr4:132646379-132646380	Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs71633785	chr4:132646381-132646382	Active TSS ZNF genes & repeats	TF binding region CpG island	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:13 , 50 per page) page: 1

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

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