Variant report

Variant	nsv966220
Chromosome Location	chr4:129955209-129958089
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	chr4:129957878..129959875-chr4:129966439..129968014,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566309888	chr4:129955264-129955265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181614924	chr4:129955266-129955267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140140084	chr4:129955350-129955351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376050974	chr4:129955380-129955381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370548656	chr4:129955393-129955394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531115010	chr4:129955395-129955396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3765056	chr4:129955456-129955457	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573550006	chr4:129955488-129955489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532462205	chr4:129955515-129955516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71589021	chr4:129955725-129955726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs398107980	chr4:129955726-129955727	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3835111	chr4:129955727-129955728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34499128	chr4:129955745-129955746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs70938448	chr4:129955746-129955747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561816981	chr4:129955754-129955755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6847784	chr4:129955832-129955833	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs34336948	chr4:129955870-129955871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146953277	chr4:129955872-129955873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34145504	chr4:129955932-129955933	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs80249020	chr4:129955933-129955934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531870029	chr4:129955941-129955942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543535193	chr4:129955966-129955967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200084250	chr4:129956000-129956001	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372789563	chr4:129956047-129956048	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77218617	chr4:129956070-129956071	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548069588	chr4:129956088-129956089	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566198738	chr4:129956106-129956107	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533363192	chr4:129956139-129956140	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532667350	chr4:129956151-129956152	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538020062	chr4:129956155-129956156	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186317929	chr4:129956181-129956182	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138042487	chr4:129956211-129956212	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs143549506	chr4:129956232-129956233	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147184123	chr4:129956278-129956279	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55714747	chr4:129956311-129956312	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534282698	chr4:129956315-129956316	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553247596	chr4:129956342-129956343	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368286790	chr4:129956376-129956377	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369691083	chr4:129956385-129956386	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191114512	chr4:129956419-129956420	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138595868	chr4:129956508-129956509	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575500295	chr4:129956515-129956516	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543942853	chr4:129956551-129956552	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182469282	chr4:129956688-129956689	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141885852	chr4:129956698-129956699	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549224165	chr4:129956717-129956718	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149312225	chr4:129956750-129956751	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559640314	chr4:129956764-129956765	ZNF genes & repeats Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533471723	chr4:129956814-129956815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187993657	chr4:129956834-129956835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
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
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129937200-129964000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:129943200-129960200	Weak transcription	Primary B cells from cord blood	blood
3	chr4:129944400-129961000	Weak transcription	Primary T cells from cord blood	blood
4	chr4:129944600-129962800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr4:129944800-129956000	Weak transcription	Fetal Lung	lung
6	chr4:129944800-129958400	Weak transcription	Liver	Liver
7	chr4:129944800-129965400	Weak transcription	Ovary	ovary
8	chr4:129945600-129958600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:129945600-129981800	Weak transcription	Thymus	Thymus
10	chr4:129951200-129958400	Weak transcription	Dnd41	blood
11	chr4:129951200-129962400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr4:129951200-129967200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:129951400-129958600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr4:129951400-129976200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:129953400-129962600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:129953600-129965600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:129953600-129965600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:129953800-129958400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:129954200-129959600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr4:129954800-129964400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr4:129955000-129960200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:129955000-129965200	Weak transcription	K562	blood
23	chr4:129955200-129961000	Weak transcription	GM12878-XiMat	blood
24	chr4:129955600-129956400	Weak transcription	Fetal Intestine Large	intestine
25	chr4:129956000-129956400	Enhancers	Fetal Lung	lung
26	chr4:129956000-129956600	Enhancers	Colon Smooth Muscle	Colon
27	chr4:129956000-129956800	Enhancers	Fetal Heart	heart
28	chr4:129956000-129958800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:129956000-129962600	Weak transcription	HMEC	breast
30	chr4:129956400-129956600	Enhancers	Fetal Intestine Large	intestine
31	chr4:129956400-129956600	Enhancers	Left Ventricle	heart
32	chr4:129956400-129962200	Weak transcription	Fetal Lung	lung
33	chr4:129956600-129956800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:129956600-129962400	Weak transcription	Left Ventricle	heart
35	chr4:129956800-129958200	Weak transcription	Fetal Heart	heart
36	chr4:129956800-129960800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr4:129956800-129960800	Weak transcription	HSMM	muscle
38	chr4:129956800-129962600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:129956800-129962600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr4:129957000-129958800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:129957000-129963800	Weak transcription	Lung	lung
42	chr4:129957000-129965400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:129957400-129964400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:129957400-129964800	Weak transcription	Fetal Stomach	stomach
45	chr4:129957800-129958400	Weak transcription	Psoas Muscle	Psoas
46	chr4:129958000-129961200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links