Variant report

Variant	esv3403851
Chromosome Location	chr4:188133658-188137956
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:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:188127890..188130779-chr4:188137377..188140053,2	K562	blood:
2	chr4:188136808..188139497-chr4:188168223..188169981,2	K562	blood:
3	chr4:188127890..188131303-chr4:188136198..188140053,3	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFP42-7	chr4:188133530-188134139	XLOC_003825
2	lnc-ZFP42-7	chr4:188134283-188134753	NONHSAT099688
3	lnc-ZFP42-7	chr4:188133984-188134139	NONHSAT099688
4	lnc-ZFP42-7	chr4:188134283-188135298	XLOC_003825
5	lnc-ZFP42-7	chr4:188133530-188134139	XLOC_003825
6	lnc-ZFP42-7	chr4:188134283-188134810	XLOC_003825

No data

Variant related genes	Relation type
ANKRD57	miRNA target sites
ZFYVE26	miRNA target sites

Extended variants
information (count: 221 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187982156	chr4:188133682-188133683	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs199916580	chr4:188133684-188133685	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs116013571	chr4:188133685-188133686	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs192259636	chr4:188133689-188133690	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs144995947	chr4:188133694-188133695	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs115749856	chr4:188133762-188133763	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs556688712	chr4:188133763-188133764	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs573506625	chr4:188133764-188133765	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs536095997	chr4:188133821-188133822	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs565273452	chr4:188133856-188133857	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs555829154	chr4:188133866-188133867	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs67199177	chr4:188133871-188133872	Weak transcription Active TSS Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185744169	chr4:188133885-188133886	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs148260535	chr4:188133909-188133910	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs564490682	chr4:188133917-188133918	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs558446690	chr4:188133928-188133929	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs544133006	chr4:188133929-188133930	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs201892886	chr4:188133966-188133967	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs534125030	chr4:188133989-188133990	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs75430245	chr4:188134014-188134015	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs558864226	chr4:188134082-188134083	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs141344844	chr4:188134103-188134104	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs559383449	chr4:188134118-188134119	Weak transcription Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs184951167	chr4:188134153-188134154	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550933027	chr4:188134208-188134209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74570779	chr4:188134220-188134221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570910850	chr4:188134225-188134226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536903170	chr4:188134241-188134242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550450029	chr4:188134247-188134248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189465236	chr4:188134287-188134288	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs150385419	chr4:188134290-188134291	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs552927680	chr4:188134320-188134321	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs373616225	chr4:188134333-188134334	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs72719071	chr4:188134361-188134362	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs113108849	chr4:188134425-188134426	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs558137658	chr4:188134428-188134429	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs372588754	chr4:188134432-188134433	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs578077170	chr4:188134497-188134498	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs543879664	chr4:188134521-188134522	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs557685305	chr4:188134525-188134526	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs7660338	chr4:188134541-188134542	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs138022969	chr4:188134547-188134548	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs143653086	chr4:188134550-188134551	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs576756041	chr4:188134602-188134603	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs147157821	chr4:188134646-188134647	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs564678270	chr4:188134669-188134670	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs76322873	chr4:188134670-188134671	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs181939597	chr4:188134743-188134744	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs567538420	chr4:188134759-188134760	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs548961390	chr4:188134784-188134785	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Oral cancer	21386901	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:188131800-188136600	Weak transcription	Esophagus	oesophagus
2	chr4:188132000-188139400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:188133400-188134800	Enhancers	Fetal Lung	lung
4	chr4:188133400-188134800	Enhancers	Fetal Stomach	stomach
5	chr4:188133600-188134200	Active TSS	Aorta	Aorta
6	chr4:188134200-188134600	Enhancers	Aorta	Aorta
7	chr4:188134800-188139600	Weak transcription	Fetal Lung	lung
8	chr4:188136200-188136600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:188136600-188137000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:188137000-188137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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