Variant report

Variant	nsv964300
Chromosome Location	chr4:88058711-88061227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:88052295..88056117-chr4:88057226..88059764,4	K562	blood:
2	chr4:88057518..88060731-chr4:88068893..88070799,3	MCF-7	breast:
3	chr4:88055864..88059165-chr4:88060107..88062593,3	K562	blood:
4	chr4:88052295..88054243-chr4:88057778..88059359,2	K562	blood:
5	chr4:88055864..88059165-chr4:88060107..88062593,3	K562	blood:
6	chr4:88056797..88059006-chr4:88063394..88065724,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76280539	chr4:88058743-88058744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373508401	chr4:88058866-88058867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565287135	chr4:88058883-88058884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532360230	chr4:88058886-88058887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547884259	chr4:88058917-88058918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566009731	chr4:88058926-88058927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184021065	chr4:88058932-88058933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548407238	chr4:88058946-88058947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1053882	chr4:88058952-88058953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188704864	chr4:88059173-88059174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182979535	chr4:88059178-88059179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528588979	chr4:88059180-88059181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34387408	chr4:88059181-88059182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568491229	chr4:88059190-88059191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549119637	chr4:88059193-88059194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75680096	chr4:88059194-88059195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143536128	chr4:88059198-88059199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376948318	chr4:88059210-88059211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs342460	chr4:88059242-88059243	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs534296761	chr4:88059256-88059257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186729638	chr4:88059285-88059286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141088841	chr4:88059309-88059310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534610757	chr4:88059314-88059315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541938047	chr4:88059315-88059316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116435485	chr4:88059320-88059321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575465795	chr4:88059366-88059367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150098587	chr4:88059376-88059377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs342459	chr4:88059415-88059416	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs138379929	chr4:88059431-88059432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs199978398	chr4:88059476-88059477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540161285	chr4:88059504-88059505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373370655	chr4:88059531-88059532	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375978553	chr4:88059535-88059536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559683711	chr4:88059571-88059572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530173051	chr4:88059573-88059574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192060102	chr4:88059590-88059591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10029915	chr4:88059617-88059618	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375259944	chr4:88059622-88059623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35457894	chr4:88059643-88059644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530976311	chr4:88059644-88059645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147936694	chr4:88059663-88059664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386676972	chr4:88059697-88059698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34782481	chr4:88059699-88059700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372424717	chr4:88059700-88059701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182043998	chr4:88059714-88059715	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76684653	chr4:88059720-88059721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535312757	chr4:88059781-88059782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552735592	chr4:88059788-88059789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2307786	chr4:88059801-88059802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369524681	chr4:88059802-88059803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
lymphocytic leukemia	21291569	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
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	20952505	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88019000-88072200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:88026400-88063600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:88032800-88059000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr4:88035600-88063800	Strong transcription	Primary T cells from cord blood	blood
5	chr4:88036400-88063600	Weak transcription	Fetal Brain Male	brain
6	chr4:88036800-88059200	Weak transcription	Fetal Brain Female	brain
7	chr4:88042800-88069400	Strong transcription	Placenta	Placenta
8	chr4:88043000-88061400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr4:88043400-88064800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:88043600-88064600	Strong transcription	GM12878-XiMat	blood
11	chr4:88044400-88060800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:88044600-88059200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr4:88044600-88060200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:88044600-88061400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr4:88044600-88061600	Strong transcription	Fetal Intestine Large	intestine
16	chr4:88044600-88062200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:88044600-88067600	Strong transcription	Primary B cells from cord blood	blood
18	chr4:88044800-88059400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr4:88044800-88061400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr4:88044800-88061600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr4:88045000-88060400	Strong transcription	Primary hematopoietic stem cells	blood
22	chr4:88045600-88058800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:88045600-88059200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:88045600-88059600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:88045600-88060400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:88045600-88063800	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:88045600-88063800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:88045800-88059200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:88045800-88059800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:88045800-88061200	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:88045800-88061400	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr4:88045800-88063000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:88045800-88067600	Strong transcription	Fetal Thymus	thymus
34	chr4:88046000-88059000	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr4:88046000-88059200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:88046000-88059400	Strong transcription	Dnd41	blood
37	chr4:88046000-88061400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr4:88046200-88059200	Strong transcription	Ovary	ovary
39	chr4:88046200-88059800	Strong transcription	Fetal Lung	lung
40	chr4:88046200-88061200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:88046200-88061400	Strong transcription	Adipose Nuclei	Adipose
42	chr4:88046200-88061400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr4:88046200-88064200	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr4:88046400-88059200	Strong transcription	Brain Hippocampus Middle	brain
45	chr4:88046400-88059200	Strong transcription	Fetal Stomach	stomach
46	chr4:88046600-88058800	Strong transcription	Fetal Muscle Trunk	muscle
47	chr4:88046600-88058800	Strong transcription	Thymus	Thymus
48	chr4:88046600-88059400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:88047200-88067000	Strong transcription	Liver	Liver
50	chr4:88047400-88059000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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