Variant report

Variant	esv3443643
Chromosome Location	chr4:125189396-125206061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:45962934..45965409-chr4:125187810..125189850,2	MCF-7	breast:
2	chr4:125202856..125205436-chr4:125209965..125212090,2	MCF-7	breast:
3	chr4:125205456..125208335-chr4:125208537..125210202,2	MCF-7	breast:
4	chr4:125195004..125196775-chr4:125232840..125234634,2	MCF-7	breast:

Extended variants
information (count: 686 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182951015	chr4:125189419-125189420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187499449	chr4:125189422-125189423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372567500	chr4:125189629-125189630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527624544	chr4:125189672-125189673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138964543	chr4:125189701-125189702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570832408	chr4:125189777-125189778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576286102	chr4:125189810-125189811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs193267176	chr4:125189853-125189854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184549642	chr4:125189863-125189864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536049518	chr4:125189874-125189875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554455057	chr4:125189877-125189878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572732415	chr4:125189902-125189903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188944884	chr4:125189955-125189956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376407892	chr4:125190012-125190013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558234731	chr4:125190026-125190027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576795109	chr4:125190063-125190064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543895167	chr4:125190078-125190079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11098744	chr4:125190080-125190081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs62320864	chr4:125190087-125190088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12374314	chr4:125190095-125190096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs192285048	chr4:125190126-125190127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569945412	chr4:125190232-125190233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575118225	chr4:125190252-125190253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543755786	chr4:125190273-125190274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115146654	chr4:125190338-125190339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62320865	chr4:125190369-125190370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs142006662	chr4:125190399-125190400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117580132	chr4:125190445-125190446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549950588	chr4:125190477-125190478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568567032	chr4:125190496-125190497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368078223	chr4:125190519-125190520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184298487	chr4:125190540-125190541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536074245	chr4:125190559-125190560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547971698	chr4:125190593-125190594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566293379	chr4:125190626-125190627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539717147	chr4:125190641-125190642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558409411	chr4:125190642-125190643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576698184	chr4:125190647-125190648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370323662	chr4:125190650-125190651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189983910	chr4:125190673-125190674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574147649	chr4:125190681-125190682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74583286	chr4:125190689-125190690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559880017	chr4:125190720-125190721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572225281	chr4:125190729-125190730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77942907	chr4:125190734-125190735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75369944	chr4:125190735-125190736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564399743	chr4:125190793-125190794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372303481	chr4:125190806-125190807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531557346	chr4:125190833-125190834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368121628	chr4:125190849-125190850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	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
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:125183800-125198400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:125189200-125189400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:125197200-125197600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:125197400-125197600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:125197400-125197600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr4:125197400-125198200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:125197400-125200400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:125197400-125201800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:125197600-125198600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:125197600-125199000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:125197600-125201000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:125197800-125201600	Enhancers	HMEC	breast
13	chr4:125198200-125203400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:125198400-125199800	Enhancers	Placenta	Placenta
15	chr4:125198400-125200600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:125198600-125199400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:125198800-125200000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:125198800-125200600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:125199000-125200000	Enhancers	Fetal Heart	heart
20	chr4:125199000-125200200	Enhancers	HSMMtube	muscle
21	chr4:125199000-125201000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:125199000-125201200	Enhancers	NHEK	skin
23	chr4:125199800-125200200	Enhancers	HSMM	muscle
24	chr4:125199800-125200800	Weak transcription	Placenta	Placenta
25	chr4:125200000-125203600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:125200000-125205400	Weak transcription	Fetal Heart	heart
27	chr4:125200400-125200800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:125200600-125203200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:125200600-125203200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:125200800-125204200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr4:125201000-125201200	Enhancers	Placenta	Placenta
32	chr4:125201000-125201600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr4:125201200-125201800	Active TSS	Primary B cells from cord blood	blood
34	chr4:125201200-125203000	Weak transcription	NHEK	skin
35	chr4:125201600-125203400	Weak transcription	HMEC	breast
36	chr4:125201800-125203400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:125203000-125203600	Enhancers	NHEK	skin
38	chr4:125203200-125204200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:125203200-125204600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:125203400-125203600	Enhancers	HMEC	breast
41	chr4:125203400-125203800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:125203400-125204000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:125203600-125204000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:125203600-125204000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:125203600-125204000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:125203600-125204000	Flanking Active TSS	HMEC	breast
47	chr4:125203600-125204200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:125203600-125204200	Flanking Active TSS	NHEK	skin
49	chr4:125204000-125204200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:125204000-125204400	Enhancers	HMEC	breast

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