Variant report

Variant	esv2760875
Chromosome Location	chr4:158727028-158744592
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:158741369-158741639	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:158731106-158731793	HepG2	liver:	n/a	n/a
3	CEBPB	chr4:158732837-158733139	HepG2	liver:	n/a	chr4:158732972-158732983 chr4:158732971-158732982
4	CHD2	chr4:158741149-158741243	HepG2	liver:	n/a	n/a
5	CTCF	chr4:158740896-158741262	MCF-7	breast:	n/a	n/a
6	CTCF	chr4:158741113-158741223	Gliobla	brain:	n/a	n/a
7	CTCF	chr4:158740554-158740712	MCF-7	breast:	n/a	n/a
8	CTCF	chr4:158740636-158740656	MCF-7	breast:	n/a	n/a
9	CTCF	chr4:158740620-158740770	HepG2	liver:	n/a	n/a
10	CTCF	chr4:158740605-158740804	MCF-7	breast:	n/a	n/a
11	CTCF	chr4:158740889-158741247	MCF-7	breast:	n/a	n/a
12	CTCF	chr4:158740925-158741249	MCF-7	breast:	n/a	n/a
13	CTCF	chr4:158740886-158741243	MCF-7	breast:	n/a	n/a
14	CTCF	chr4:158740579-158740781	MCF-7	breast:	n/a	n/a
15	CTCF	chr4:158740621-158740724	MCF-7	breast:	n/a	n/a
16	CTCF	chr4:158741080-158741230	MCF-7	breast:	n/a	n/a
17	CTCF	chr4:158741077-158741178	LNCaP	prostate:	n/a	n/a
18	CTCF	chr4:158741070-158741180	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr4:158740783-158741237	MCF-7	breast:	n/a	n/a
20	CTCF	chr4:158740930-158741226	MCF-7	breast:	n/a	n/a
21	CTCF	chr4:158740960-158741110	MCF-7	breast:	n/a	n/a
22	EP300	chr4:158731290-158731665	HepG2	liver:	n/a	n/a
23	EP300	chr4:158731167-158731741	HepG2	liver:	n/a	n/a
24	EP300	chr4:158731196-158731670	HepG2	liver:	n/a	n/a
25	FOS	chr4:158730312-158730453	MCF10A-Er-Src	breast:	n/a	chr4:158730426-158730437 chr4:158730428-158730437
26	FOS	chr4:158730310-158730589	HUVEC	blood vessel:	n/a	chr4:158730426-158730437 chr4:158730428-158730437
27	FOS	chr4:158731377-158731611	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr4:158731355-158731572	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr4:158732902-158733066	MCF10A-Er-Src	breast:	n/a	n/a
30	FOXA1	chr4:158731147-158731737	HepG2	liver:	n/a	n/a
31	FOXA1	chr4:158731174-158732022	HepG2	liver:	n/a	n/a
32	FOXA1	chr4:158731156-158731955	HepG2	liver:	n/a	n/a
33	FOXA1	chr4:158731139-158732019	HepG2	liver:	n/a	n/a
34	FOXA2	chr4:158731247-158731696	HepG2	liver:	n/a	n/a
35	FOXA2	chr4:158730966-158731915	HepG2	liver:	n/a	n/a
36	FOXP2	chr4:158727407-158727650	SK-N-MC	brain:	n/a	n/a
37	GATA3	chr4:158739909-158740704	MCF-7	breast:	n/a	n/a
38	GATA3	chr4:158736342-158736406	SH-SY5Y	brain:	n/a	n/a
39	HDAC2	chr4:158731242-158731697	HepG2	liver:	n/a	n/a
40	HDAC2	chr4:158731237-158731724	HepG2	liver:	n/a	n/a
41	HNF4A	chr4:158731326-158731790	HepG2	liver:	n/a	n/a
42	HNF4A	chr4:158731334-158731728	HepG2	liver:	n/a	n/a
43	HNF4G	chr4:158731280-158731735	HepG2	liver:	n/a	n/a
44	HNF4G	chr4:158731242-158731720	HepG2	liver:	n/a	n/a
45	JUND	chr4:158734493-158734823	HepG2	liver:	n/a	n/a
46	JUND	chr4:158731254-158731727	HepG2	liver:	n/a	n/a
47	MAFF	chr4:158731423-158731659	HepG2	liver:	n/a	n/a
48	MAFK	chr4:158731341-158731719	HepG2	liver:	n/a	n/a
49	MAFK	chr4:158732936-158733063	HepG2	liver:	n/a	chr4:158732963-158732978
50	MAFK	chr4:158732812-158732990	HepG2	liver:	n/a	chr4:158732963-158732978

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:158736043..158739040-chr4:158739771..158742196,2	MCF-7	breast:
2	chr4:158739449..158742006-chr4:158764593..158766645,2	MCF-7	breast:
3	chr4:158730340..158733222-chr4:158735249..158736822,2	K562	blood:
4	chr4:158435721..158436654-chr4:158726633..158727296,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM144-5	chr4:158736162-158736632	NONHSAT098977

No data

Variant related genes	Relation type
ENSG00000249627	TF binding region
ENSG00000249627	chromatin interactions

Extended variants
information (count: 587 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:587 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569712223	chr4:158727040-158727041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560531940	chr4:158727095-158727096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34646408	chr4:158727187-158727188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532606143	chr4:158727212-158727213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7690058	chr4:158727222-158727223	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569236404	chr4:158727224-158727225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571158253	chr4:158727225-158727226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116634018	chr4:158727245-158727246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371856693	chr4:158727246-158727247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556707571	chr4:158727309-158727310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550320376	chr4:158727319-158727320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34751268	chr4:158727420-158727421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201052145	chr4:158727449-158727450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4142913	chr4:158727450-158727451	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs36110490	chr4:158727451-158727452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115217192	chr4:158727535-158727536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115381764	chr4:158727566-158727567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548457765	chr4:158727606-158727607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573072209	chr4:158727615-158727616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538864011	chr4:158727633-158727634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112963591	chr4:158727675-158727676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575628445	chr4:158727676-158727677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574943596	chr4:158727708-158727709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1448439	chr4:158727739-158727740	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs561132426	chr4:158727753-158727754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574838080	chr4:158727771-158727772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183973041	chr4:158727816-158727817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs560258109	chr4:158727826-158727827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188696198	chr4:158727834-158727835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79381527	chr4:158727897-158727898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7671381	chr4:158727948-158727949	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs13133577	chr4:158728010-158728011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531932231	chr4:158728110-158728111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10004462	chr4:158728130-158728131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs140954795	chr4:158728139-158728140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114476868	chr4:158728149-158728150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150196919	chr4:158728168-158728169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560380071	chr4:158728238-158728239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199499675	chr4:158728241-158728242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538803610	chr4:158728276-158728277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558812028	chr4:158728307-158728308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10027160	chr4:158728337-158728338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs116101379	chr4:158728365-158728366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554891800	chr4:158728372-158728373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181223413	chr4:158728437-158728438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540648046	chr4:158728460-158728461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576470794	chr4:158728480-158728481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139318847	chr4:158728481-158728482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576938004	chr4:158728487-158728488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186766666	chr4:158728529-158728530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Breast cancer	17603634	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
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	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
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
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Autism	20841430	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158724600-158727600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:158724800-158734400	Weak transcription	Aorta	Aorta
3	chr4:158725400-158727200	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr4:158725400-158727200	Enhancers	Stomach Smooth Muscle	stomach
5	chr4:158725600-158731000	Weak transcription	Fetal Intestine Small	intestine
6	chr4:158725800-158727200	Enhancers	HepG2	liver
7	chr4:158725800-158731200	Weak transcription	Liver	Liver
8	chr4:158726200-158728000	Enhancers	Rectal Smooth Muscle	rectum
9	chr4:158726600-158727200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:158726800-158727200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:158726800-158727600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:158726800-158727600	Enhancers	Fetal Brain Female	brain
13	chr4:158726800-158727800	Enhancers	Brain Germinal Matrix	brain
14	chr4:158727000-158731000	Weak transcription	Fetal Intestine Large	intestine
15	chr4:158727000-158731400	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:158727200-158727800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:158727200-158730200	Weak transcription	HepG2	liver
18	chr4:158727600-158727800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr4:158727800-158728400	Weak transcription	Brain Germinal Matrix	brain
20	chr4:158728000-158730200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:158728400-158728600	Enhancers	Brain Germinal Matrix	brain
22	chr4:158729600-158730400	Enhancers	Pancreas	Pancrea
23	chr4:158729800-158730400	Enhancers	HUVEC	blood vessel
24	chr4:158730200-158731400	Enhancers	Rectal Smooth Muscle	rectum
25	chr4:158730200-158732800	Enhancers	HepG2	liver
26	chr4:158730800-158731000	Enhancers	Stomach Mucosa	stomach
27	chr4:158731000-158732000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:158731000-158732000	Enhancers	Fetal Intestine Small	intestine
29	chr4:158731000-158732000	Weak transcription	Stomach Mucosa	stomach
30	chr4:158731000-158732200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:158731000-158732200	Enhancers	Fetal Intestine Large	intestine
32	chr4:158731000-158732200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr4:158731200-158731600	Enhancers	Duodenum Mucosa	Duodenum
34	chr4:158731200-158731800	Enhancers	Liver	Liver
35	chr4:158731200-158732000	Enhancers	Stomach Smooth Muscle	stomach
36	chr4:158731200-158732000	Enhancers	HMEC	breast
37	chr4:158731400-158732000	Enhancers	Colon Smooth Muscle	Colon
38	chr4:158731600-158731800	Enhancers	Small Intestine	intestine
39	chr4:158732000-158732400	Enhancers	Stomach Mucosa	stomach
40	chr4:158732000-158736800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:158739800-158740000	Enhancers	Pancreas	Pancrea
42	chr4:158740000-158741400	Enhancers	Placenta	Placenta
43	chr4:158740000-158741400	Flanking Active TSS	Pancreas	Pancrea
44	chr4:158740200-158741400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:158740400-158741400	Enhancers	Gastric	stomach
46	chr4:158740600-158740800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:158740600-158741400	Enhancers	Spleen	Spleen
48	chr4:158740800-158743000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:158741000-158741400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:158741000-158741600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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