Variant report

Variant	esv2759289
Chromosome Location	chr4:152776271-152809738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:152803724..152805338-chr4:152808624..152810923,2	K562	blood:
2	chr4:152804097..152806378-chr4:152817285..152819187,2	K562	blood:
3	chr4:152791629..152793817-chr4:152795687..152797994,2	K562	blood:
4	chr4:152783651..152785975-chr4:152786154..152789103,2	K562	blood:
5	chr4:152803724..152805338-chr4:152808624..152810923,2	K562	blood:
6	chr4:152804253..152807006-chr4:152811957..152814569,2	K562	blood:
7	chr4:152803737..152805745-chr4:152816897..152818541,2	MCF-7	breast:
8	chr4:152805506..152807725-chr4:152813069..152815634,2	K562	blood:
9	chr4:152791629..152793817-chr4:152795687..152797994,2	K562	blood:
10	chr4:152783651..152785975-chr4:152786154..152789103,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PET112-1	chr4:152808695-152808915	XLOC_004123
2	lnc-PET112-1	chr4:152809643-152809730	XLOC_004123
3	lnc-FAM160A1-10	chr4:152807158-152808055	l_2755_chr4:152807157-152811090_testes
4	lnc-FAM160A1-10	chr4:152808057-152810405	l_2755_chr4:152807157-152811090_testes

No data

Variant related genes	Relation type
ENSG00000249708	chromatin interactions

Extended variants
information (count: 1488 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1488 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6835546	chr4:152776271-152776272	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs531646636	chr4:152776278-152776279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550154289	chr4:152776294-152776295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181247811	chr4:152776319-152776320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535963250	chr4:152776348-152776349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554295408	chr4:152776350-152776351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73862270	chr4:152776358-152776359	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs9884140	chr4:152776374-152776375	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558529689	chr4:152776416-152776417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147520792	chr4:152776428-152776429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6818025	chr4:152776496-152776497	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs138529857	chr4:152776526-152776527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560577564	chr4:152776530-152776531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs361209	chr4:152776538-152776539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546323314	chr4:152776551-152776552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574316524	chr4:152776600-152776601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541941769	chr4:152776639-152776640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559790983	chr4:152776650-152776651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111682801	chr4:152776655-152776656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527527241	chr4:152776747-152776748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545582296	chr4:152776753-152776754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563895351	chr4:152776758-152776759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531657591	chr4:152776788-152776789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555485503	chr4:152776810-152776811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113154031	chr4:152776822-152776823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76922776	chr4:152776823-152776824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200455747	chr4:152776834-152776835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564630476	chr4:152776853-152776854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549774749	chr4:152776891-152776892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184155861	chr4:152776927-152776928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529252959	chr4:152776928-152776929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547958099	chr4:152776968-152776969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187965888	chr4:152777001-152777002	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539903402	chr4:152777071-152777072	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62329017	chr4:152777074-152777075	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570121231	chr4:152777083-152777084	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537764087	chr4:152777097-152777098	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555769960	chr4:152777108-152777109	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574399222	chr4:152777110-152777111	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535077640	chr4:152777133-152777134	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186142847	chr4:152777176-152777177	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571815335	chr4:152777205-152777206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76981518	chr4:152777207-152777208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201391849	chr4:152777254-152777255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199994786	chr4:152777255-152777256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs361210	chr4:152777262-152777263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs367905785	chr4:152777284-152777285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576144646	chr4:152777285-152777286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543731464	chr4:152777303-152777304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6847386	chr4:152777336-152777337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:74)

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
Esophageal squamous carcinoma	18350619	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
Cancer	21183584	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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152772200-152776400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:152773600-152778800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:152775600-152776400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:152777000-152777200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:152777200-152779200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:152778000-152778200	Enhancers	Duodenum Mucosa	Duodenum
7	chr4:152778000-152778400	Enhancers	Liver	Liver
8	chr4:152778200-152778400	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr4:152778200-152778400	Enhancers	Ovary	ovary
10	chr4:152778200-152778800	Enhancers	Fetal Lung	lung
11	chr4:152778400-152778600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:152778400-152778600	Flanking Active TSS	Ovary	ovary
13	chr4:152778400-152778800	Flanking Active TSS	Liver	Liver
14	chr4:152778400-152778800	Active TSS	Duodenum Mucosa	Duodenum
15	chr4:152778400-152778800	Active TSS	Right Ventricle	heart
16	chr4:152778400-152778800	Active TSS	Stomach Smooth Muscle	stomach
17	chr4:152778400-152778800	Flanking Active TSS	NHEK	skin
18	chr4:152778400-152779400	Weak transcription	HSMMtube	muscle
19	chr4:152778600-152778800	Enhancers	H9 Cell Line	embryonic stem cell
20	chr4:152778600-152778800	Active TSS	Ovary	ovary
21	chr4:152778600-152779000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:152778600-152779200	Enhancers	Fetal Heart	heart
23	chr4:152778600-152779200	Enhancers	Right Atrium	heart
24	chr4:152778800-152779000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:152778800-152779000	Flanking Active TSS	Ovary	ovary
26	chr4:152778800-152779000	Enhancers	Pancreas	Pancrea
27	chr4:152778800-152779000	Active TSS	NHEK	skin
28	chr4:152778800-152779200	Enhancers	Liver	Liver
29	chr4:152778800-152779200	Enhancers	Right Ventricle	heart
30	chr4:152778800-152779400	Enhancers	Psoas Muscle	Psoas
31	chr4:152779000-152779200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr4:152779000-152779200	Enhancers	Ovary	ovary
33	chr4:152779000-152779800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:152779000-152788600	Weak transcription	Pancreas	Pancrea
35	chr4:152779200-152779800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:152779200-152786000	Weak transcription	Right Ventricle	heart
37	chr4:152779400-152782000	Enhancers	HSMMtube	muscle
38	chr4:152779800-152780000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:152780200-152781400	Enhancers	HSMM	muscle
40	chr4:152780800-152789000	Enhancers	Fetal Brain Male	brain
41	chr4:152781000-152781200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr4:152781200-152794800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:152782000-152782400	Enhancers	Fetal Brain Female	brain
44	chr4:152782400-152784800	Weak transcription	Fetal Brain Female	brain
45	chr4:152784800-152785400	Enhancers	Fetal Brain Female	brain
46	chr4:152785000-152785400	Enhancers	Fetal Thymus	thymus
47	chr4:152785000-152786000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr4:152785200-152789400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr4:152785400-152785800	Weak transcription	Fetal Thymus	thymus
50	chr4:152785400-152786400	Weak transcription	Fetal Brain Female	brain

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