Variant report

Variant	esv3519847
Chromosome Location	chr4:188134733-188137056
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZFP42-7	chr4:188134283-188134753	NONHSAT099688
2	lnc-ZFP42-7	chr4:188134283-188134810	XLOC_003825
3	lnc-ZFP42-7	chr4:188134283-188135298	XLOC_003825

Variant related genes	Relation type
ZFYVE26	miRNA target sites

Extended variants
information (count: 134 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:134 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181939597	chr4:188134743-188134744	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs567538420	chr4:188134759-188134760	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs548961390	chr4:188134784-188134785	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs76617005	chr4:188134799-188134800	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs5865032	chr4:188134801-188134802	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs3762924	chr4:188134838-188134839	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570197891	chr4:188134851-188134852	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs2018413	chr4:188134881-188134882	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs566552513	chr4:188134894-188134895	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs535079346	chr4:188134900-188134901	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs531225944	chr4:188134936-188134937	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs184387186	chr4:188134960-188134961	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs571818416	chr4:188134973-188134974	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs189047186	chr4:188135024-188135025	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs557092097	chr4:188135059-188135060	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs544020271	chr4:188135068-188135069	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs147352286	chr4:188135080-188135081	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs552553742	chr4:188135081-188135082	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs573089124	chr4:188135127-188135128	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs545242347	chr4:188135260-188135261	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs564614477	chr4:188135313-188135314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114035366	chr4:188135361-188135362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571166126	chr4:188135381-188135382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538612158	chr4:188135388-188135389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543773257	chr4:188135414-188135415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560746272	chr4:188135420-188135421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182090996	chr4:188135461-188135462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11420310	chr4:188135464-188135465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140967782	chr4:188135465-188135466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144781905	chr4:188135466-188135467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151162881	chr4:188135467-188135468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs397879646	chr4:188135468-188135469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552430359	chr4:188135471-188135472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571734773	chr4:188135477-188135478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553819657	chr4:188135483-188135484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71723545	chr4:188135554-188135555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550905407	chr4:188135572-188135573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567560674	chr4:188135578-188135579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536689219	chr4:188135583-188135584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62345810	chr4:188135691-188135692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71640085	chr4:188135697-188135698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113632401	chr4:188135708-188135709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79739904	chr4:188135727-188135728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6824657	chr4:188135733-188135734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113184511	chr4:188135750-188135751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553384015	chr4:188135751-188135752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113500959	chr4:188135780-188135781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs70938618	chr4:188135785-188135786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76121013	chr4:188135799-188135800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112735716	chr4:188135816-188135817	Weak transcription	n/a	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:8 , 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	chr4:188134800-188139600	Weak transcription	Fetal Lung	lung
6	chr4:188136200-188136600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:188136600-188137000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:188137000-188137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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