Variant report

Variant	nsv1014794
Chromosome Location	chr4:104214697-104249393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1029 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1029 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571800284	chr4:104214715-104214716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561954936	chr4:104214733-104214734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539110033	chr4:104214744-104214745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139811487	chr4:104214764-104214765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529069392	chr4:104214766-104214767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185269284	chr4:104214792-104214793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28683080	chr4:104214822-104214823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs572791492	chr4:104214828-104214829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540082919	chr4:104214835-104214836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113323726	chr4:104214947-104214948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558308009	chr4:104214969-104214970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28564995	chr4:104214981-104214982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189777129	chr4:104215012-104215013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377499418	chr4:104215020-104215021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562398303	chr4:104215035-104215036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181128998	chr4:104215051-104215052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553680463	chr4:104215097-104215098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185794096	chr4:104215104-104215105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs11097804	chr4:104215137-104215138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs546769265	chr4:104215146-104215147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528775551	chr4:104215154-104215155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78313607	chr4:104215159-104215160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571887711	chr4:104215183-104215184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532566829	chr4:104215225-104215226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568681659	chr4:104215276-104215277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569211848	chr4:104215277-104215278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149651181	chr4:104215278-104215279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546042738	chr4:104215298-104215299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4456958	chr4:104215332-104215333	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs144382622	chr4:104215382-104215383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11725628	chr4:104215411-104215412	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs11725629	chr4:104215417-104215418	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs4388090	chr4:104215436-104215437	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572492549	chr4:104215463-104215464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551364789	chr4:104215534-104215535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188107666	chr4:104215549-104215550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556265958	chr4:104215564-104215565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374055397	chr4:104215629-104215630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148778304	chr4:104215644-104215645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541876801	chr4:104215675-104215676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142416896	chr4:104215681-104215682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11725732	chr4:104215706-104215707	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs540947025	chr4:104215740-104215741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565390128	chr4:104215741-104215742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373892609	chr4:104215748-104215749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386677967	chr4:104215761-104215762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114261398	chr4:104215763-104215764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147921506	chr4:104215767-104215768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143419292	chr4:104215809-104215810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56738290	chr4:104215811-104215812	Enhancers 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:138 , 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	chr4:104214600-104214800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:104214800-104223800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:104215000-104216800	Enhancers	HepG2	liver
5	chr4:104215400-104216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:104215800-104216800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:104216000-104220200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:104220200-104220400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:104220400-104224000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:104223800-104224800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:104223800-104224800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr4:104223800-104224800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:104223800-104225000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:104224000-104224400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:104224000-104224600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:104224000-104224600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:104224000-104224800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:104224000-104224800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:104224000-104224800	Enhancers	HMEC	breast
20	chr4:104224000-104225000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr4:104224200-104224400	Enhancers	H9 Cell Line	embryonic stem cell
22	chr4:104224200-104224400	Enhancers	HepG2	liver
23	chr4:104224200-104224800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:104224400-104226600	Weak transcription	HepG2	liver
25	chr4:104224400-104227800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:104224600-104227200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:104224600-104227600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:104224800-104226400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr4:104224800-104226600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:104224800-104227600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:104224800-104227600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:104224800-104227800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr4:104224800-104228000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr4:104225000-104227400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:104225000-104232800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr4:104225800-104228800	Enhancers	Placenta	Placenta
37	chr4:104226200-104226600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:104226400-104228600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:104226600-104227000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:104226600-104227000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:104226600-104227600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:104226600-104227600	Enhancers	HepG2	liver
43	chr4:104226600-104229000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr4:104226600-104229000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:104226600-104229800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:104226800-104227200	Enhancers	Fetal Stomach	stomach
47	chr4:104226800-104227800	Enhancers	Fetal Intestine Small	intestine
48	chr4:104226800-104229000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:104226800-104229400	Enhancers	Fetal Muscle Leg	muscle
50	chr4:104226800-104229600	Enhancers	Fetal Muscle Trunk	muscle

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