Variant report

Variant	esv3448287
Chromosome Location	chr4:166553452-166556850
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	chr4:166552860..166555630-chr4:166591074..166593334,2	MCF-7	breast:

Extended variants
information (count: 125 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557643108	chr4:166553452-166553453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138296219	chr4:166553463-166553464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs963718	chr4:166553474-166553475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190171559	chr4:166553486-166553487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555175666	chr4:166553487-166553488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573523327	chr4:166553494-166553495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542728012	chr4:166553591-166553592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368874099	chr4:166553707-166553708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573561874	chr4:166553720-166553721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17588335	chr4:166553727-166553728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182716767	chr4:166553767-166553768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74535482	chr4:166553779-166553780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554682104	chr4:166553786-166553787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146912467	chr4:166553787-166553788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544794198	chr4:166553836-166553837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545039411	chr4:166553863-166553864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186945527	chr4:166553875-166553876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528020479	chr4:166553915-166553916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543333013	chr4:166553921-166553922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561511671	chr4:166553926-166553927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531765340	chr4:166553930-166553931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528827331	chr4:166554012-166554013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550660015	chr4:166554036-166554037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139334788	chr4:166554049-166554050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191739943	chr4:166554057-166554058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143282124	chr4:166554081-166554082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs971710	chr4:166554082-166554083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs79649472	chr4:166554140-166554141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555241296	chr4:166554143-166554144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183982316	chr4:166554226-166554227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529999299	chr4:166554229-166554230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535344344	chr4:166554290-166554291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188888210	chr4:166554321-166554322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72689452	chr4:166554356-166554357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191314832	chr4:166554388-166554389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200776167	chr4:166554389-166554390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147463060	chr4:166554397-166554398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554244141	chr4:166554434-166554435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs957713	chr4:166554468-166554469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs201375644	chr4:166554479-166554480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201859278	chr4:166554496-166554497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3043076	chr4:166554509-166554510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113029333	chr4:166554510-166554511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs957712	chr4:166554588-166554589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539286581	chr4:166554644-166554645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561524245	chr4:166554651-166554652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531947945	chr4:166554680-166554681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543622381	chr4:166554691-166554692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150640192	chr4:166554744-166554745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532918605	chr4:166554754-166554755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166545200-166555200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:166551800-166553600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:166551800-166553800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:166551800-166554000	Enhancers	HMEC	breast
5	chr4:166552000-166553600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:166552000-166553600	Enhancers	Fetal Heart	heart
7	chr4:166552000-166554000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:166552200-166554000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:166552400-166554000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:166552600-166553600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:166552600-166554000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:166552800-166554000	Enhancers	Fetal Stomach	stomach
13	chr4:166553000-166553600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:166553200-166553600	Enhancers	Rectal Smooth Muscle	rectum
15	chr4:166553200-166554000	Enhancers	Psoas Muscle	Psoas
16	chr4:166553400-166553600	Enhancers	NHEK	skin
17	chr4:166553400-166555800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:166553400-166556400	Weak transcription	Fetal Thymus	thymus
19	chr4:166553400-166556600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:166553600-166555600	Weak transcription	NHEK	skin
21	chr4:166553800-166556600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:166554000-166555600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:166554000-166556400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:166555600-166555800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:166555600-166556800	ZNF genes & repeats	NHEK	skin
26	chr4:166555800-166556000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:166555800-166556600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:166556400-166557400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:166556400-166557400	Enhancers	Fetal Thymus	thymus
30	chr4:166556600-166557000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:166556600-166557200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:166556600-166569200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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