Variant report

Variant	nsv1003375
Chromosome Location	chr4:104206802-104249393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:104243719..104245643-chr4:104247001..104248713,2	K562	blood:
2	chr4:104213569..104215673-chr4:104223134..104225892,2	MCF-7	breast:
3	chr4:104213569..104215673-chr4:104223134..104225892,2	MCF-7	breast:
4	chr4:104243719..104245643-chr4:104247001..104248713,2	K562	blood:
5	chr4:104181685..104183408-chr4:104209717..104212156,2	K562	blood:
6	chr4:104246786..104248754-chr4:104256476..104258038,2	K562	blood:

Extended variants
information (count: 1216 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1216 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71834311	chr4:104209402-104209403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201955925	chr4:104209403-104209404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544905661	chr4:104209483-104209484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536655627	chr4:104209484-104209485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554629159	chr4:104209554-104209555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188021699	chr4:104209574-104209575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2126469	chr4:104209597-104209598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530319090	chr4:104209609-104209610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548489743	chr4:104209638-104209639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372751725	chr4:104209660-104209661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35357411	chr4:104209684-104209685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527758631	chr4:104209694-104209695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552188129	chr4:104209764-104209765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570530771	chr4:104209766-104209767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537823854	chr4:104209792-104209793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192694220	chr4:104209794-104209795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377181958	chr4:104209814-104209815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568226244	chr4:104209819-104209820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183793241	chr4:104209859-104209860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553679483	chr4:104209873-104209874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370197886	chr4:104209875-104209876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111329881	chr4:104209882-104209883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545633507	chr4:104209885-104209886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373426625	chr4:104209895-104209896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553680981	chr4:104209898-104209899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572196338	chr4:104209919-104209920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539522763	chr4:104209963-104209964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189241062	chr4:104209968-104209969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78551054	chr4:104209969-104209970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577499808	chr4:104210032-104210033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370247951	chr4:104210041-104210042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541786690	chr4:104210095-104210096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143098236	chr4:104210146-104210147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142950483	chr4:104210238-104210239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112419088	chr4:104210254-104210255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541824970	chr4:104210255-104210256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563204407	chr4:104210305-104210306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181771315	chr4:104210320-104210321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151102423	chr4:104210376-104210377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184777075	chr4:104210396-104210397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530657204	chr4:104210418-104210419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190049879	chr4:104210456-104210457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552278024	chr4:104210475-104210476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181749401	chr4:104210499-104210500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564196066	chr4:104210529-104210530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181522942	chr4:104210531-104210532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528265235	chr4:104210557-104210558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531743269	chr4:104210586-104210587	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141039093	chr4:104210599-104210600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568387878	chr4:104210724-104210725	Weak transcription	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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	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
Adenoid cystic carcinoma	18698036	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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104209400-104229400	Weak transcription	Right Atrium	heart
2	chr4:104210200-104210600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:104213400-104214400	Enhancers	HMEC	breast
4	chr4:104213600-104213800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:104214200-104214600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:104214600-104214800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:104214800-104223800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:104215000-104216800	Enhancers	HepG2	liver
9	chr4:104215400-104216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:104215800-104216800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:104216000-104220200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:104220200-104220400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:104220400-104224000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:104223800-104224800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:104223800-104224800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:104223800-104224800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:104223800-104225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:104224000-104224400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:104224000-104224600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:104224000-104224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:104224000-104224800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:104224000-104224800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:104224000-104224800	Enhancers	HMEC	breast
24	chr4:104224000-104225000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr4:104224200-104224400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr4:104224200-104224400	Enhancers	HepG2	liver
27	chr4:104224200-104224800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:104224400-104226600	Weak transcription	HepG2	liver
29	chr4:104224400-104227800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:104224600-104227200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:104224600-104227600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:104224800-104226400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:104224800-104226600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:104224800-104227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr4:104224800-104227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:104224800-104227800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:104224800-104228000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr4:104225000-104227400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr4:104225000-104232800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr4:104225800-104228800	Enhancers	Placenta	Placenta
41	chr4:104226200-104226600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:104226400-104228600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr4:104226600-104227000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:104226600-104227000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:104226600-104227600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:104226600-104227600	Enhancers	HepG2	liver
47	chr4:104226600-104229000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr4:104226600-104229000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:104226600-104229800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:104226800-104227200	Enhancers	Fetal Stomach	stomach

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