Variant report

Variant	esv1843053
Chromosome Location	chr4:132644018-132684869
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:182)
CpG islands
(count:2140)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:182 , 50 per page) page: 1 2 3 4

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	CTCF	chr4:132656263-132656342	GM10248	blood:	n/a	n/a
5	CTCF	chr4:132656337-132656391	LNCaP	prostate:	n/a	n/a
6	CTCF	chr4:132651343-132651348	GM10248	blood:	n/a	n/a
7	CTCF	chr4:132664482-132664598	LNCaP	prostate:	n/a	chr4:132664549-132664562
8	CTCF	chr4:132663911-132663984	GM12891	blood:	n/a	n/a
9	CTCF	chr4:132664464-132664625	LNCaP	prostate:	n/a	chr4:132664549-132664562
10	CTCF	chr4:132680481-132680506	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr4:132671917-132672049	LNCaP	prostate:	n/a	chr4:132671985-132671998
12	CTCF	chr4:132656296-132656315	LNCaP	prostate:	n/a	n/a
13	CTCF	chr4:132671870-132672056	LNCaP	prostate:	n/a	chr4:132671985-132671998
14	E2F6	chr4:132646712-132646865	K562	blood:	n/a	n/a
15	ESR1	chr4:132646144-132646379	T-47D	breast:	n/a	n/a
16	FOSL2	chr4:132663766-132664083	HepG2	liver:	n/a	n/a
17	FOSL2	chr4:132671224-132671521	HepG2	liver:	n/a	n/a
18	HEY1	chr4:132648681-132648865	K562	blood:	n/a	n/a
19	HEY1	chr4:132646146-132646336	HepG2	liver:	n/a	n/a
20	HEY1	chr4:132646169-132646415	K562	blood:	n/a	n/a
21	HEY1	chr4:132655977-132656218	HepG2	liver:	n/a	n/a
22	HEY1	chr4:132660960-132661201	HepG2	liver:	n/a	n/a
23	HEY1	chr4:132648596-132649072	HepG2	liver:	n/a	n/a
24	HEY1	chr4:132651064-132651326	HepG2	liver:	n/a	n/a
25	HEY1	chr4:132651079-132651270	K562	blood:	n/a	n/a
26	HEY1	chr4:132648601-132648997	K562	blood:	n/a	n/a
27	HEY1	chr4:132658465-132658706	HepG2	liver:	n/a	n/a
28	JUND	chr4:132646170-132646446	A549	lung:	n/a	n/a
29	MAX	chr4:132646229-132646270	Hela-S3	cervix:	n/a	n/a
30	MAX	chr4:132646753-132646855	K562	blood:	n/a	n/a
31	MAX	chr4:132646236-132646273	GM12878	blood:	n/a	n/a
32	MAX	chr4:132646710-132646923	K562	blood:	n/a	n/a
33	MAZ	chr4:132646241-132646260	K562	blood:	n/a	n/a
34	NRF1	chr4:132646069-132646270	H1-hESC	embryonic stem cell:	n/a	n/a
35	NRF1	chr4:132646152-132646327	SK-N-SH	brain:	n/a	n/a
36	NRF1	chr4:132646059-132646277	GM12878	blood:	n/a	n/a
37	PAX5	chr4:132672241-132672412	GM12878	blood:	n/a	n/a
38	PAX5	chr4:132664805-132664976	GM12878	blood:	n/a	n/a
39	POLR2A	chr4:132651114-132651295	A549	lung:	n/a	n/a
40	POLR2A	chr4:132648690-132649039	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr4:132646074-132646393	K562	blood:	n/a	n/a
42	POLR2A	chr4:132668614-132668696	A549	lung:	n/a	n/a
43	POLR2A	chr4:132646233-132646409	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr4:132671368-132671546	K562	blood:	n/a	n/a
45	POLR2A	chr4:132646236-132646390	MCF-7	breast:	n/a	n/a
46	POLR2A	chr4:132646194-132646311	A549	lung:	n/a	n/a
47	POLR2A	chr4:132646197-132646293	HepG2	liver:	n/a	n/a
48	POLR2A	chr4:132663611-132663772	HepG2	liver:	n/a	n/a
49	POLR2A	chr4:132646235-132646437	GM12878	blood:	n/a	n/a
50	POLR2A	chr4:132646187-132646332	A549	lung:	n/a	n/a

(count:2140 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:132677675-132677725	SK-N-SH	brain:	n/a
2	chr4:132647121-132647171	HUVEC	blood vessel:	n/a
3	chr4:132650897-132650947	HL-60	blood:	n/a
4	chr4:132645884-132645934	MCF-7	breast:	n/a
5	chr4:132677681-132677731	HepG2	liver:	n/a
6	chr4:132677675-132677725	SK-N-SH	brain:	n/a
7	chr4:132647121-132647171	HUVEC	blood vessel:	n/a
8	chr4:132650897-132650947	HL-60	blood:	n/a
9	chr4:132645884-132645934	MCF-7	breast:	n/a
10	chr4:132677681-132677731	HepG2	liver:	n/a
11	chr4:132646574-132646624	AG10803	skin:	n/a
12	chr4:132677675-132677725	RPTEC	kidney:	n/a
13	chr4:132660385-132660435	H1-hESC	embryonic stem cell:	embryo
14	chr4:132661961-132662011	AG04450	lung:	fetal
15	chr4:132647023-132647073	AoSMC	blood vessel:	n/a
16	chr4:132671417-132671467	HepG2	liver:	n/a
17	chr4:132671715-132671765	HCF	heart:	n/a
18	chr4:132654638-132654688	SK-N-MC	brain:	n/a
19	chr4:132684138-132684188	Hela-S3	cervix:	n/a
20	chr4:132647023-132647073	SK-N-SH_RA	brain:	n/a
21	chr4:132671417-132671467	HL-60	blood:	n/a
22	chr4:132665367-132665417	HNPCEpiC	eye:	n/a
23	chr4:132646574-132646624	HPAEpiC	pulmonary alveolar:	n/a
24	chr4:132671417-132671467	ECC-1	luminal epithelium:	n/a
25	chr4:132649229-132649279	SK-N-MC	brain:	n/a
26	chr4:132661931-132661981	BJ	skin:	n/a
27	chr4:132660385-132660435	HNPCEpiC	eye:	n/a
28	chr4:132677681-132677731	HAEpiC	amniotic membrane:	n/a
29	chr4:132651902-132651952	PrEC	prostate:	n/a
30	chr4:132663979-132664029	Caco-2	colon:	n/a
31	chr4:132652001-132652051	HRPEpiC	eye:	n/a
32	chr4:132649551-132649601	HRCEpiC	kidney:	n/a
33	chr4:132666925-132666975	GM06990	blood:	n/a
34	chr4:132669494-132669544	HCPEpiC	choroid plexus:	n/a
35	chr4:132654638-132654688	CMK	blood:	n/a
36	chr4:132666925-132666975	HNPCEpiC	eye:	n/a
37	chr4:132651902-132651952	HNPCEpiC	eye:	n/a
38	chr4:132652001-132652051	SK-N-SH	brain:	n/a
39	chr4:132649551-132649601	HRPEpiC	eye:	n/a
40	chr4:132677681-132677731	SK-N-SH	brain:	n/a
41	chr4:132669494-132669544	PrEC	prostate:	n/a
42	chr4:132646574-132646624	ECC-1	luminal epithelium:	n/a
43	chr4:132666907-132666957	HAEpiC	amniotic membrane:	n/a
44	chr4:132649229-132649279	HRE	kidney:	n/a
45	chr4:132652001-132652051	SKMC	muscle:	n/a
46	chr4:132647861-132647911	PFSK-1	brain:	n/a
47	chr4:132646360-132646410	Hepatocyte	liver:	n/a
48	chr4:132666925-132666975	IMR90	lung:	fetal
49	chr4:132649479-132649529	K562	blood:	n/a
50	chr4:132684138-132684188	NT2-D1	testis:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PCDH10-16	chr4:132678560-132678792	NONHSAT098318

No data

Variant related genes	Relation type
ENSG00000252014	TF binding region
RN7SL205P	TF binding region
ENSG00000249416	TF binding region
ENSG00000252014	CpG island
RN7SL205P	CpG island
ENSG00000249416	CpG island

Extended variants
information (count: 874 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:874 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10007559	chr4:132644030-132644031	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193171974	chr4:132644031-132644032	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577530684	chr4:132644045-132644046	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs113993454	chr4:132644047-132644048	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs558691549	chr4:132644053-132644054	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs575293846	chr4:132644054-132644055	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs184639826	chr4:132644063-132644064	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs560757670	chr4:132644065-132644066	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs574655680	chr4:132644076-132644077	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs540157996	chr4:132644077-132644078	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559880145	chr4:132644080-132644081	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs189859472	chr4:132644088-132644089	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533390043	chr4:132644100-132644101	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs111601772	chr4:132644101-132644102	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs545846373	chr4:132644119-132644120	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs146323909	chr4:132644124-132644125	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562993411	chr4:132644127-132644128	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs180718345	chr4:132644128-132644129	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs548545195	chr4:132644138-132644139	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs183592214	chr4:132644142-132644143	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs62317433	chr4:132644145-132644146	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs10007668	chr4:132644148-132644149	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559000935	chr4:132644152-132644153	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs556836811	chr4:132644193-132644194	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs140424234	chr4:132644198-132644199	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs142096127	chr4:132644208-132644209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554519928	chr4:132644234-132644235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181807341	chr4:132644235-132644236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540095366	chr4:132644237-132644238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186400929	chr4:132644238-132644239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112549463	chr4:132644247-132644248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116711216	chr4:132644252-132644253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560353599	chr4:132644264-132644265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190356038	chr4:132644293-132644294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10007864	chr4:132644301-132644302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562076258	chr4:132644302-132644303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527692692	chr4:132644309-132644310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139120517	chr4:132644311-132644312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182056901	chr4:132644333-132644334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186154410	chr4:132644337-132644338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550328874	chr4:132644338-132644339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570177406	chr4:132644344-132644345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537911132	chr4:132644348-132644349	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs554375771	chr4:132644349-132644350	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs141413210	chr4:132644352-132644353	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs533540261	chr4:132644359-132644360	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs553388998	chr4:132644360-132644361	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs576708028	chr4:132644371-132644372	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs112171044	chr4:132644376-132644377	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs556290634	chr4:132644377-132644378	Weak transcription	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:132643800-132646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:132644000-132644200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:132645800-132646800	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr4:132646000-132646400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:132646000-132646400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:132646000-132646400	Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr4:132646000-132646400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr4:132646000-132646400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:132646000-132646400	Active TSS	Ovary	ovary
10	chr4:132646000-132646400	Active TSS	Stomach Smooth Muscle	stomach
11	chr4:132646000-132647000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:132646200-132646400	ZNF genes & repeats	Gastric	stomach
13	chr4:132646200-132646400	Active TSS	Right Ventricle	heart
14	chr4:132646200-132646600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr4:132648200-132649200	Active TSS	HMEC	breast
16	chr4:132650400-132650600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:132663800-132664000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
18	chr4:132663800-132664000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:132663800-132664000	ZNF genes & repeats	Dnd41	blood
20	chr4:132663800-132664800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:132663800-132664800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:132664000-132664400	Weak transcription	Dnd41	blood
23	chr4:132664400-132664800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:132664600-132664800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
25	chr4:132664600-132664800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:132664800-132671200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:132664800-132671200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:132664800-132671200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:132664800-132671200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:132664800-132671200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr4:132671200-132671600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:132671200-132671600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
33	chr4:132671200-132671600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:132671200-132671600	ZNF genes & repeats	Placenta	Placenta
35	chr4:132671200-132671800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:132671200-132672000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:132671600-132672400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr4:132671600-132672600	Weak transcription	Placenta	Placenta

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