Variant report

Variant	esv3354250
Chromosome Location	chr4:187846708-187848206
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	chr4:187676723..187679624-chr4:187847276..187848972,2	K562	blood:
2	chr4:187844136..187846877-chr4:187850742..187852747,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77636219	chr4:187846719-187846720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536405047	chr4:187846723-187846724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564812689	chr4:187846776-187846777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532291887	chr4:187846781-187846782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4861730	chr4:187846794-187846795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140456439	chr4:187846915-187846916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112374527	chr4:187846924-187846925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72496345	chr4:187846930-187846931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534084718	chr4:187846955-187846956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376750653	chr4:187847009-187847010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543938729	chr4:187847037-187847038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563733824	chr4:187847051-187847052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570934627	chr4:187847092-187847093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7665481	chr4:187847112-187847113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543174783	chr4:187847201-187847202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10634539	chr4:187847224-187847225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs33926387	chr4:187847225-187847226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559667165	chr4:187847236-187847237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530448026	chr4:187847255-187847256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10634540	chr4:187847284-187847285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs33991898	chr4:187847285-187847286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538083946	chr4:187847289-187847290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527330610	chr4:187847338-187847339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199939408	chr4:187847385-187847386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528813867	chr4:187847458-187847459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10634541	chr4:187847459-187847460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556383378	chr4:187847463-187847464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367678788	chr4:187847464-187847465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376511746	chr4:187847465-187847466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537664982	chr4:187847469-187847470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374048645	chr4:187847478-187847479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7670870	chr4:187847479-187847480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7695552	chr4:187847480-187847481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7671012	chr4:187847486-187847487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570955619	chr4:187847490-187847491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7670879	chr4:187847491-187847492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7670916	chr4:187847554-187847555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574644447	chr4:187847568-187847569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112412647	chr4:187847603-187847604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13117841	chr4:187847604-187847605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553486203	chr4:187847605-187847606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146791072	chr4:187847618-187847619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149162221	chr4:187847624-187847625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566540204	chr4:187847632-187847633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372774834	chr4:187847715-187847716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538982458	chr4:187847768-187847769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147315241	chr4:187847778-187847779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6553024	chr4:187847786-187847787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs144828535	chr4:187847855-187847856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138680536	chr4:187847864-187847865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187837200-187863800	Weak transcription	Right Atrium	heart
2	chr4:187840000-187853400	Weak transcription	Fetal Kidney	kidney
3	chr4:187842000-187852400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:187842600-187848600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:187842600-187852200	Weak transcription	HMEC	breast
6	chr4:187845400-187846800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:187845800-187851200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:187846000-187850400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:187846200-187847800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:187846200-187848600	Weak transcription	NHEK	skin
11	chr4:187846200-187851400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:187846200-187851800	Weak transcription	Osteobl	bone
13	chr4:187846400-187848600	Weak transcription	NHDF-Ad	bronchial
14	chr4:187846400-187849800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:187846400-187851200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:187846400-187851200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:187846400-187853400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:187846800-187848600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:187847800-187848800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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