Variant report

Variant	esv3325488
Chromosome Location	chr4:187879758-187895456
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	chr4:187759553..187761639-chr4:187893343..187896166,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181335650	chr4:187879765-187879766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7695973	chr4:187879767-187879768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs544772611	chr4:187879773-187879774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565249470	chr4:187879781-187879782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114111250	chr4:187879800-187879801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11424766	chr4:187879836-187879837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11432720	chr4:187879850-187879851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147298939	chr4:187879863-187879864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549985166	chr4:187879887-187879888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114791415	chr4:187879901-187879902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530469904	chr4:187879906-187879907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139836280	chr4:187879914-187879915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149854734	chr4:187879931-187879932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11424765	chr4:187879957-187879958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78480159	chr4:187879958-187879959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563410356	chr4:187879962-187879963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184721363	chr4:187879997-187879998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549124029	chr4:187880022-187880023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7696677	chr4:187880098-187880099	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528053482	chr4:187880109-187880110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58185372	chr4:187880116-187880117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs189554586	chr4:187880117-187880118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566080209	chr4:187880128-187880129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534999201	chr4:187880136-187880137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547674531	chr4:187880137-187880138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7696554	chr4:187880155-187880156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs571136664	chr4:187880166-187880167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148514037	chr4:187880170-187880171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557108229	chr4:187880172-187880173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573739328	chr4:187880175-187880176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7696569	chr4:187880177-187880178	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs536455698	chr4:187880184-187880185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536985096	chr4:187880186-187880187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73029427	chr4:187880188-187880189	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553199848	chr4:187880199-187880200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142775272	chr4:187880221-187880222	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs146587797	chr4:187880227-187880228	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs564529795	chr4:187880228-187880229	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs568708824	chr4:187880237-187880238	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs182137988	chr4:187880253-187880254	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs112979817	chr4:187880263-187880264	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs185805269	chr4:187880264-187880265	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs537923721	chr4:187880269-187880270	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs143645599	chr4:187880274-187880275	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs368927310	chr4:187880294-187880295	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs146728178	chr4:187880298-187880299	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs140260152	chr4:187880313-187880314	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs190996348	chr4:187880314-187880315	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs150381891	chr4:187880357-187880358	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs181784209	chr4:187880365-187880366	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187868400-187880800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:187878000-187879800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:187878000-187879800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:187878600-187880200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:187879000-187880200	Enhancers	HMEC	breast
6	chr4:187879200-187879800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:187879200-187879800	Enhancers	Osteobl	bone
8	chr4:187879200-187880200	Enhancers	NHEK	skin
9	chr4:187879400-187879800	Enhancers	NH-A	brain
10	chr4:187879400-187880000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:187879400-187880400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:187880000-187880400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:187880200-187880400	Bivalent Enhancer	NHEK	skin

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