Variant report

Variant	nsv1001662
Chromosome Location	chr4:104228931-104249393
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	chr4:104243719..104245643-chr4:104247001..104248713,2	K562	blood:
3	chr4:104246786..104248754-chr4:104256476..104258038,2	K562	blood:

Extended variants
information (count: 466 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146511219	chr4:104229006-104229007	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs556210543	chr4:104229013-104229014	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs574457066	chr4:104229019-104229020	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566113478	chr4:104229062-104229063	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs141087211	chr4:104229110-104229111	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs555201563	chr4:104229111-104229112	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs573396305	chr4:104229137-104229138	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs540820695	chr4:104229163-104229164	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs6851313	chr4:104229179-104229180	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs528403642	chr4:104229205-104229206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565069198	chr4:104229218-104229219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189510545	chr4:104229319-104229320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536255412	chr4:104229332-104229333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551665073	chr4:104229339-104229340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372682640	chr4:104229358-104229359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562564572	chr4:104229359-104229360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530058499	chr4:104229375-104229376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71596396	chr4:104229378-104229379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540706452	chr4:104229379-104229380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34243863	chr4:104229403-104229404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79860124	chr4:104229404-104229405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181140169	chr4:104229451-104229452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151185574	chr4:104229460-104229461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551345081	chr4:104229470-104229471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556038830	chr4:104229476-104229477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1996350	chr4:104229547-104229548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185791957	chr4:104229558-104229559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570626038	chr4:104229573-104229574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1996349	chr4:104229581-104229582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78247044	chr4:104229587-104229588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35691097	chr4:104229630-104229631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1996348	chr4:104229659-104229660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140201389	chr4:104229664-104229665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80347207	chr4:104229668-104229669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1996347	chr4:104229702-104229703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535419136	chr4:104229704-104229705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555008261	chr4:104229733-104229734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs137953333	chr4:104229756-104229757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375106941	chr4:104229800-104229801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141935157	chr4:104229823-104229824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112018331	chr4:104229864-104229865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188105529	chr4:104229911-104229912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544303293	chr4:104229950-104229951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562603268	chr4:104230059-104230060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574781488	chr4:104230171-104230172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181014921	chr4:104230193-104230194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560221386	chr4:104230228-104230229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138551821	chr4:104230329-104230330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552471685	chr4:104230394-104230395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564276297	chr4:104230420-104230421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Chronic lymphocytic leukemia	21215367	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:104209400-104229400	Weak transcription	Right Atrium	heart
2	chr4:104225000-104232800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:104226600-104229000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:104226600-104229000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:104226600-104229800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:104226800-104229000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:104226800-104229400	Enhancers	Fetal Muscle Leg	muscle
8	chr4:104226800-104229600	Enhancers	Fetal Muscle Trunk	muscle
9	chr4:104227400-104229000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:104227400-104229000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:104227400-104229600	Enhancers	Fetal Lung	lung
12	chr4:104227600-104229000	Enhancers	Gastric	stomach
13	chr4:104227600-104229200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:104227600-104229200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:104227600-104229600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:104227600-104229800	Enhancers	Fetal Stomach	stomach
17	chr4:104228000-104229000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:104228400-104229200	Flanking Active TSS	HepG2	liver
19	chr4:104228400-104229600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:104228600-104229000	Enhancers	Brain Substantia Nigra	brain
21	chr4:104228600-104229000	Enhancers	Fetal Intestine Large	intestine
22	chr4:104228600-104229000	Enhancers	Fetal Intestine Small	intestine
23	chr4:104228600-104229600	Enhancers	Brain Cingulate Gyrus	brain
24	chr4:104228800-104229000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr4:104229400-104229600	Enhancers	Right Atrium	heart
26	chr4:104229600-104229800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:104239200-104240000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr4:104239200-104240400	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:104239400-104240000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:104239400-104240000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr4:104239600-104240000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr4:104239600-104240200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:104240200-104247200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:104240400-104248000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:104245600-104245800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:104245800-104246400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:104248000-104248200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:104248000-104248600	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links