Variant report

Variant	esv1834094
Chromosome Location	chr4:187347697-187357125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:185)
Chromatin interactive
region (count:0)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr4:187356907-187357919	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL11A	chr4:187354074-187354310	GM12878	blood:	n/a	n/a
3	CBX3	chr4:187354461-187354780	K562	blood:	n/a	n/a
4	CTCF	chr4:187356940-187357090	GM12875	blood:	n/a	n/a
5	EP300	chr4:187356989-187357134	GM12878	blood:	n/a	n/a
6	EP300	chr4:187356819-187357200	GM12878	blood:	n/a	n/a
7	EP300	chr4:187354028-187354714	GM12878	blood:	n/a	n/a
8	FOSL2	chr4:187354023-187354915	HepG2	liver:	n/a	n/a
9	FOSL2	chr4:187356105-187356646	HepG2	liver:	n/a	n/a
10	FOSL2	chr4:187356815-187357295	HepG2	liver:	n/a	n/a
11	GABPA	chr4:187356867-187357217	GM12878	blood:	n/a	n/a
12	GABPA	chr4:187354037-187354736	Hela-S3	cervix:	n/a	n/a
13	GABPA	chr4:187356330-187356558	Hela-S3	cervix:	n/a	n/a
14	GABPA	chr4:187356819-187357288	Hela-S3	cervix:	n/a	n/a
15	GABPA	chr4:187348852-187349677	HepG2	liver:	n/a	n/a
16	GABPA	chr4:187354078-187354721	GM12878	blood:	n/a	n/a
17	IRF4	chr4:187356290-187356611	GM12878	blood:	n/a	n/a
18	IRF4	chr4:187353535-187354919	GM12878	blood:	n/a	n/a
19	IRF4	chr4:187356878-187357165	GM12878	blood:	n/a	n/a
20	IRF4	chr4:187356240-187356568	GM12878	blood:	n/a	n/a
21	IRF4	chr4:187356806-187357282	GM12878	blood:	n/a	n/a
22	MYC	chr4:187354434-187354572	H1-hESC	embryonic stem cell:	n/a	n/a
23	MYC	chr4:187354132-187354338	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr4:187349363-187349629	H1-hESC	embryonic stem cell:	n/a	n/a
25	MYC	chr4:187356835-187357109	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr4:187354577-187355022	H1-hESC	embryonic stem cell:	n/a	n/a
27	PAX5	chr4:187356969-187357162	GM12878	blood:	n/a	n/a
28	PAX5	chr4:187353921-187354938	GM12878	blood:	n/a	n/a
29	PAX5	chr4:187356047-187357623	GM12878	blood:	n/a	n/a
30	PAX5	chr4:187354998-187355324	GM12878	blood:	n/a	n/a
31	PAX5	chr4:187356240-187356641	GM12878	blood:	n/a	n/a
32	PAX5	chr4:187353419-187354032	GM12878	blood:	n/a	n/a
33	PAX5	chr4:187353433-187353752	GM12878	blood:	n/a	n/a
34	PAX5	chr4:187354055-187354760	GM12878	blood:	n/a	n/a
35	PAX5	chr4:187348774-187349849	GM12878	blood:	n/a	n/a
36	PAX5	chr4:187356842-187357225	GM12878	blood:	n/a	n/a
37	PAX5	chr4:187353759-187353939	GM12878	blood:	n/a	n/a
38	PAX5	chr4:187354463-187354680	GM12878	blood:	n/a	n/a
39	PAX5	chr4:187356418-187356632	GM12878	blood:	n/a	n/a
40	POLR2A	chr4:187357003-187357185	GM12878	blood:	n/a	n/a
41	POU2F2	chr4:187349301-187349597	GM12878	blood:	n/a	n/a
42	POU2F2	chr4:187356817-187357251	GM12878	blood:	n/a	n/a
43	POU2F2	chr4:187356140-187356660	GM12878	blood:	n/a	n/a
44	POU2F2	chr4:187354024-187355005	GM12878	blood:	n/a	n/a
45	REST	chr4:187348840-187349708	PANC-1	pancreas:	n/a	n/a
46	SIX5	chr4:187353431-187353678	K562	blood:	n/a	n/a
47	SP1	chr4:187356294-187356592	GM12878	blood:	n/a	n/a
48	SP1	chr4:187354346-187354636	HepG2	liver:	n/a	n/a
49	SP1	chr4:187356833-187357227	GM12878	blood:	n/a	n/a
50	SP1	chr4:187354173-187354721	GM12878	blood:	n/a	n/a

(count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:187349714-187349764	U87	brain:	n/a
2	chr4:187349714-187349764	HEK293	kidney:	embryo
3	chr4:187349714-187349764	U87	brain:	n/a
4	chr4:187349714-187349764	HEK293	kidney:	embryo
5	chr4:187349131-187349181	HepG2	liver:	n/a
6	chr4:187349714-187349764	AG04449	skin:	fetal
7	chr4:187349665-187349715	GM12892	blood:	n/a
8	chr4:187349131-187349181	SK-N-SH_RA	brain:	n/a
9	chr4:187349714-187349764	HCF	heart:	n/a
10	chr4:187349131-187349181	Jurkat	blood:	n/a
11	chr4:187349665-187349715	SK-N-MC	brain:	n/a
12	chr4:187349714-187349764	HRPEpiC	eye:	n/a
13	chr4:187349714-187349764	SK-N-MC	brain:	n/a
14	chr4:187349131-187349181	LNCaP	prostate:	n/a
15	chr4:187349665-187349715	MCF10A-Er-Src	breast:	n/a
16	chr4:187349131-187349181	NB4	blood:	n/a
17	chr4:187349665-187349715	AG09319	gingival:	n/a
18	chr4:187349714-187349764	SK-N-SH	brain:	n/a
19	chr4:187349714-187349764	BE2_C	brain:	n/a
20	chr4:187349714-187349764	ProgFib	skin:	n/a
21	chr4:187349131-187349181	HRCEpiC	kidney:	n/a
22	chr4:187349714-187349764	SKMC	muscle:	n/a
23	chr4:187349131-187349181	NH-A	brain:	n/a
24	chr4:187349131-187349181	GM19239	blood:	n/a
25	chr4:187349665-187349715	RPTEC	kidney:	n/a
26	chr4:187349131-187349181	HRE	kidney:	n/a
27	chr4:187349714-187349764	HCM	heart:	n/a
28	chr4:187349714-187349764	NHDF-neo	bronchial:	n/a
29	chr4:187349131-187349181	HIPEpiC	eye:	n/a
30	chr4:187349714-187349764	K562	blood:	n/a
31	chr4:187349131-187349181	HMEC	breast:	n/a
32	chr4:187349131-187349181	U87	brain:	n/a
33	chr4:187349665-187349715	HepG2	liver:	n/a
34	chr4:187349665-187349715	NHBE	bronchial:	n/a
35	chr4:187349714-187349764	GM12878	blood:	n/a
36	chr4:187349131-187349181	GM12892	blood:	n/a
37	chr4:187349714-187349764	A549	lung:	n/a
38	chr4:187349131-187349181	Caco-2	colon:	n/a
39	chr4:187349131-187349181	CMK	blood:	n/a
40	chr4:187349665-187349715	HRPEpiC	eye:	n/a
41	chr4:187349131-187349181	PANC-1	pancreas:	n/a
42	chr4:187349714-187349764	HepG2	liver:	n/a
43	chr4:187349714-187349764	PANC-1	pancreas:	n/a
44	chr4:187349714-187349764	BJ	skin:	n/a
45	chr4:187349714-187349764	AG10803	skin:	n/a
46	chr4:187349665-187349715	HCM	heart:	n/a
47	chr4:187349714-187349764	GM12891	blood:	n/a
48	chr4:187349714-187349764	GM06990	blood:	n/a
49	chr4:187349665-187349715	Caco-2	colon:	n/a
50	chr4:187349131-187349181	K562	blood:	n/a

No data

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTNR1A-1	chr4:187353299-187353392	ENSG00000251165.1
2	lnc-MTNR1A-1	chr4:187349859-187350004	ENSG00000251165.1
3	lnc-MTNR1A-1	chr4:187347391-187348252	NONHSAT099658
4	lnc-MTNR1A-1	chr4:187352772-187352922	ENSG00000251165.1
5	lnc-MTNR1A-1	chr4:187353299-187353392	NONHSAT099658
6	lnc-MTNR1A-1	chr4:187347391-187348252	ENSG00000251165.1
7	lnc-MTNR1A-1	chr4:187352772-187352922	NONHSAT099658
8	lnc-MTNR1A-1	chr4:187348128-187348252	ENSG00000251165.1
9	lnc-MTNR1A-1	chr4:187353299-187353392	ENSG00000251165.1
10	lnc-MTNR1A-1	chr4:187352772-187352922	ENSG00000251165.1

No data

Variant related genes	Relation type
F11-AS1	TF binding region
F11-AS1	CpG island

Extended variants
information (count: 700 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:700 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6849285	chr4:187347697-187347698	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs144253437	chr4:187347715-187347716	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs552555869	chr4:187347733-187347734	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs116494391	chr4:187347743-187347744	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs539414246	chr4:187347747-187347748	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs367955328	chr4:187347844-187347845	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs372072000	chr4:187347851-187347852	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs189224736	chr4:187347926-187347927	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs13140715	chr4:187347954-187347955	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553932318	chr4:187347979-187347980	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs577079476	chr4:187347986-187347987	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs140729130	chr4:187347987-187347988	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs142969388	chr4:187347988-187347989	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs193108950	chr4:187348015-187348016	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs147484464	chr4:187348020-187348021	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs370734882	chr4:187348038-187348039	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs200210718	chr4:187348053-187348054	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs368197994	chr4:187348059-187348060	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs139935425	chr4:187348142-187348143	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs539954979	chr4:187348171-187348172	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs560925654	chr4:187348227-187348228	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs574513386	chr4:187348291-187348292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540294233	chr4:187348292-187348293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560221070	chr4:187348459-187348460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111760224	chr4:187348465-187348466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552736245	chr4:187348468-187348469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561518317	chr4:187348470-187348471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142640284	chr4:187348471-187348472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532016051	chr4:187348476-187348477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11726393	chr4:187348484-187348485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs568036689	chr4:187348511-187348512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183467199	chr4:187348516-187348517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533788379	chr4:187348530-187348531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115106500	chr4:187348531-187348532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6845403	chr4:187348537-187348538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs144566094	chr4:187348560-187348561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78191402	chr4:187348570-187348571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556304741	chr4:187348571-187348572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188249924	chr4:187348587-187348588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181086555	chr4:187348590-187348591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150977878	chr4:187348607-187348608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184118869	chr4:187348609-187348610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540236855	chr4:187348615-187348616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77358549	chr4:187348646-187348647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577258938	chr4:187348691-187348692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73873605	chr4:187348838-187348839	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs189909299	chr4:187348847-187348848	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs182135793	chr4:187348866-187348867	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs548832109	chr4:187348877-187348878	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs73873606	chr4:187348883-187348884	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187347200-187353200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:187353200-187353400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:187353200-187354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:187354000-187354400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:187354000-187357000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:187354400-187357000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:187357000-187357200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:187357000-187357800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:187357000-187357800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:187357000-187357800	ZNF genes & repeats	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links