Variant report

Variant	esv3423195
Chromosome Location	chr4:187327113-187327594
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	chr4:187327492..187329160-chr4:187332412..187335274,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115381914	chr4:187327133-187327134	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs553366487	chr4:187327139-187327140	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557878728	chr4:187327141-187327142	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs200414194	chr4:187327145-187327146	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs182466252	chr4:187327148-187327149	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs573380485	chr4:187327149-187327150	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs147788128	chr4:187327163-187327164	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528396510	chr4:187327173-187327174	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs539116274	chr4:187327191-187327192	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs561809616	chr4:187327193-187327194	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs546532101	chr4:187327197-187327198	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs186821926	chr4:187327208-187327209	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34728847	chr4:187327209-187327210	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs57836577	chr4:187327210-187327211	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558821351	chr4:187327216-187327217	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186832083	chr4:187327225-187327226	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564638307	chr4:187327233-187327234	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140944765	chr4:187327241-187327242	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544498530	chr4:187327242-187327243	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191630952	chr4:187327243-187327244	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116353635	chr4:187327267-187327268	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539795427	chr4:187327280-187327281	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73028796	chr4:187327295-187327296	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs28678869	chr4:187327336-187327337	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577417811	chr4:187327343-187327344	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182758385	chr4:187327345-187327346	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531500068	chr4:187327349-187327350	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371468212	chr4:187327365-187327366	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548415752	chr4:187327366-187327367	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200430603	chr4:187327372-187327373	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201343836	chr4:187327374-187327375	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34593007	chr4:187327375-187327376	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs3056248	chr4:187327377-187327378	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142801456	chr4:187327378-187327379	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192412274	chr4:187327379-187327380	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547756178	chr4:187327386-187327387	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565331635	chr4:187327387-187327388	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2044866	chr4:187327389-187327390	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538687156	chr4:187327392-187327393	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558978880	chr4:187327398-187327399	ZNF genes & repeats Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200865714	chr4:187327401-187327402	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202201341	chr4:187327405-187327406	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569265143	chr4:187327423-187327424	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538006938	chr4:187327425-187327426	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75749843	chr4:187327427-187327428	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200655275	chr4:187327431-187327432	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188590429	chr4:187327435-187327436	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554202085	chr4:187327436-187327437	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576750360	chr4:187327453-187327454	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545497954	chr4:187327467-187327468	Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	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
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187326000-187329200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:187326200-187327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:187326800-187327400	Enhancers	A549	lung
4	chr4:187327000-187327200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:187327000-187327400	Enhancers	Fetal Lung	lung
6	chr4:187327000-187327600	ZNF genes & repeats	Gastric	stomach
7	chr4:187327000-187327600	Enhancers	Pancreas	Pancrea
8	chr4:187327200-187327400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:187327200-187327600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:187327200-187327600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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