Variant report

Variant	esv3508499
Chromosome Location	chr4:171690271-171722702
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	chr4:171718644..171721578-chr4:171722752..171725551,2	K562	blood:
2	chr4:171722091..171723639-chr4:171731576..171734168,2	MCF-7	breast:

Extended variants
information (count: 243 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:243 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35512771	chr4:171691260-171691261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538916746	chr4:171691265-171691266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547598331	chr4:171691272-171691273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565917833	chr4:171691276-171691277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186612108	chr4:171691305-171691306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555043626	chr4:171691373-171691374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576398821	chr4:171691394-171691395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560293060	chr4:171691416-171691417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539630397	chr4:171691419-171691420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537463527	chr4:171691522-171691523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10004230	chr4:171691525-171691526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576379318	chr4:171691541-171691542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541864333	chr4:171691573-171691574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541299604	chr4:171691614-171691615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559623554	chr4:171691629-171691630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7673001	chr4:171691630-171691631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571942125	chr4:171691649-171691650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541609917	chr4:171691666-171691667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34425817	chr4:171691712-171691713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563390148	chr4:171691737-171691738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530475022	chr4:171691756-171691757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375120243	chr4:171691791-171691792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139413312	chr4:171691798-171691799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191349065	chr4:171691812-171691813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532699920	chr4:171691831-171691832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78723475	chr4:171691870-171691871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565979275	chr4:171691886-171691887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183755902	chr4:171691906-171691907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28482955	chr4:171691912-171691913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs189078245	chr4:171691937-171691938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372211033	chr4:171691953-171691954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192817696	chr4:171691972-171691973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376729990	chr4:171691976-171691977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs80071253	chr4:171692038-171692039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150061527	chr4:171692083-171692084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553304003	chr4:171692101-171692102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574729792	chr4:171692127-171692128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542008774	chr4:171692140-171692141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72696893	chr4:171692146-171692147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs140904005	chr4:171692197-171692198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4472098	chr4:171692211-171692212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs144750349	chr4:171692219-171692220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185235422	chr4:171692229-171692230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541365565	chr4:171692240-171692241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78567784	chr4:171692299-171692300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4473624	chr4:171692300-171692301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147909608	chr4:171692321-171692322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111728773	chr4:171692363-171692364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71607816	chr4:171692364-171692365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113744158	chr4:171692427-171692428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	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
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
Basal cell lymphoma	17053054	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171691200-171691400	Enhancers	Placenta Amnion	Placenta Amnion
2	chr4:171691400-171692800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:171692800-171694200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr4:171696800-171697000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:171697600-171698400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:171698200-171698400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:171698200-171698600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:171698200-171698600	Enhancers	GM12878-XiMat	blood
9	chr4:171709400-171709600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:171709600-171710000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr4:171709600-171710200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr4:171709600-171710200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr4:171709600-171710200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr4:171709600-171710200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr4:171709600-171710400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr4:171709800-171710200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr4:171710000-171710200	Enhancers	H1 Cell Line	embryonic stem cell

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