Variant report

Variant	esv3347552
Chromosome Location	chr4:167490396-167511299
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	chr4:167484390..167486125-chr4:167489099..167491015,2	MCF-7	breast:
2	chr4:167407304..167409099-chr4:167497184..167500129,2	K562	blood:

Extended variants
information (count: 377 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:377 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552616575	chr4:167490606-167490607	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs563003736	chr4:167490623-167490624	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs571089963	chr4:167490625-167490626	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs185780455	chr4:167490653-167490654	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs528498864	chr4:167490658-167490659	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372856438	chr4:167490661-167490662	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs190634483	chr4:167490678-167490679	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs568842177	chr4:167490691-167490692	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs77956604	chr4:167490693-167490694	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs142302852	chr4:167490728-167490729	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573633368	chr4:167490753-167490754	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35288838	chr4:167490766-167490767	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568259953	chr4:167490774-167490775	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs535543125	chr4:167490776-167490777	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530442926	chr4:167490786-167490787	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs557382430	chr4:167490797-167490798	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs145919222	chr4:167490843-167490844	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537225009	chr4:167490863-167490864	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375156448	chr4:167490870-167490871	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369843669	chr4:167490876-167490877	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79570518	chr4:167490992-167490993	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577195602	chr4:167491007-167491008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs557588008	chr4:167491021-167491022	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs183207222	chr4:167491036-167491037	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs188965434	chr4:167491053-167491054	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs80320558	chr4:167491058-167491059	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs574626166	chr4:167491134-167491135	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs142727033	chr4:167491143-167491144	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs563367909	chr4:167491150-167491151	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs575764165	chr4:167491164-167491165	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs190852984	chr4:167491166-167491167	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs564652410	chr4:167491177-167491178	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs552895939	chr4:167491183-167491184	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546627601	chr4:167491192-167491193	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs545048944	chr4:167491199-167491200	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs561753424	chr4:167491200-167491201	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs33925121	chr4:167491201-167491202	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs548446183	chr4:167491289-167491290	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs550820134	chr4:167491293-167491294	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs371558134	chr4:167491318-167491319	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs569302590	chr4:167491325-167491326	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs561335999	chr4:167491336-167491337	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs9993316	chr4:167491360-167491361	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs552329899	chr4:167491379-167491380	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs373461700	chr4:167491380-167491381	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs141621836	chr4:167491382-167491383	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs534907062	chr4:167491404-167491405	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs553263486	chr4:167491412-167491413	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs574507294	chr4:167491418-167491419	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs112452202	chr4:167491419-167491420	Active TSS	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
Breast cancer	17603634	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
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	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
Congenital diaphragmatic hernia	21085971	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
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Schizophrenia	20967226	CNVD
Epilepsy	21635232	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:167490600-167491200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:167490800-167491000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:167490800-167491400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr4:167491000-167491600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr4:167491200-167491800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr4:167499000-167499200	ZNF genes & repeats	Esophagus	oesophagus
7	chr4:167502800-167503600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:167503000-167503400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:167503600-167515400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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