Variant report

Variant	esv3321549
Chromosome Location	chr4:148704702-148706800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148706733..148708272-chr4:148709553..148712261,2	MCF-7	breast:
2	chr4:148706652..148708945-chr4:148723113..148725039,2	MCF-7	breast:
3	chr4:148652741..148654893-chr4:148705162..148708132,2	MCF-7	breast:
4	chr4:148702279..148704768-chr4:148706718..148708415,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264274	chromatin interactions
ENSG00000071205	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376919621	chr4:148704705-148704706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561301626	chr4:148704709-148704710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574662448	chr4:148704711-148704712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2654955	chr4:148704719-148704720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371110144	chr4:148704740-148704741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539214888	chr4:148704752-148704753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71616568	chr4:148704785-148704786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77637354	chr4:148704818-148704819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2654954	chr4:148704851-148704852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28671664	chr4:148704884-148704885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185631589	chr4:148704897-148704898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188583678	chr4:148704929-148704930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77653564	chr4:148704932-148704933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551879117	chr4:148704945-148704946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34473616	chr4:148704963-148704964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113895407	chr4:148704964-148704965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377705863	chr4:148704968-148704969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62330676	chr4:148704977-148704978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201600786	chr4:148704995-148704996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28670998	chr4:148705009-148705010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559339424	chr4:148705041-148705042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200095874	chr4:148705059-148705060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181375240	chr4:148705073-148705074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111520799	chr4:148705092-148705093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546222940	chr4:148705108-148705109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528823005	chr4:148705153-148705154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573275291	chr4:148705166-148705167	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201786763	chr4:148705177-148705178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs80044485	chr4:148705296-148705297	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs187056193	chr4:148705327-148705328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568184596	chr4:148705353-148705354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs62642441	chr4:148705358-148705359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111216524	chr4:148705415-148705416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530691981	chr4:148705418-148705419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs74751980	chr4:148705440-148705441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550807298	chr4:148705531-148705532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs539003139	chr4:148705549-148705550	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs113781094	chr4:148705583-148705584	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555520049	chr4:148705628-148705629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370985475	chr4:148705684-148705685	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs200445508	chr4:148705685-148705686	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs36202812	chr4:148705813-148705814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375025852	chr4:148705823-148705824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376722085	chr4:148705824-148705825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147737078	chr4:148705830-148705831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141139773	chr4:148705864-148705865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs57795453	chr4:148705883-148705884	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576603458	chr4:148705888-148705889	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs185874568	chr4:148705894-148705895	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557911306	chr4:148705897-148705898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
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
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148694800-148708400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:148695400-148707400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:148695600-148706400	Weak transcription	Fetal Stomach	stomach
4	chr4:148697000-148706400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:148698200-148708800	Weak transcription	Pancreas	Pancrea
6	chr4:148698800-148708400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:148699400-148708200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:148699800-148706600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:148700800-148708000	Weak transcription	Right Ventricle	heart
10	chr4:148701600-148706400	Weak transcription	Thymus	Thymus
11	chr4:148701600-148706600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:148701800-148716800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:148702000-148706400	Weak transcription	Fetal Thymus	thymus
14	chr4:148702000-148707200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:148702000-148707400	Weak transcription	Gastric	stomach
16	chr4:148702000-148707400	Weak transcription	Psoas Muscle	Psoas
17	chr4:148702000-148707800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:148702000-148709600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:148702000-148710200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:148702000-148714600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:148702200-148707000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr4:148702200-148707000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:148702200-148707400	Weak transcription	Aorta	Aorta
24	chr4:148702200-148707400	Weak transcription	Lung	lung
25	chr4:148702200-148707400	Weak transcription	Right Atrium	heart
26	chr4:148702400-148706400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr4:148702600-148706600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:148703400-148706400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr4:148703600-148707000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:148703600-148707400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:148703600-148708000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:148703600-148710200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:148703800-148706400	Weak transcription	Adipose Nuclei	Adipose
34	chr4:148703800-148706400	Weak transcription	Fetal Heart	heart
35	chr4:148703800-148706400	Weak transcription	Fetal Lung	lung
36	chr4:148703800-148706400	Weak transcription	Stomach Mucosa	stomach
37	chr4:148703800-148706400	Weak transcription	NHDF-Ad	bronchial
38	chr4:148703800-148707400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:148703800-148707400	Weak transcription	Left Ventricle	heart
40	chr4:148703800-148707400	Weak transcription	Ovary	ovary
41	chr4:148703800-148708000	Weak transcription	Small Intestine	intestine
42	chr4:148703800-148708600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:148703800-148713200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr4:148704000-148706200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:148704000-148706200	Weak transcription	GM12878-XiMat	blood
46	chr4:148704000-148706200	Weak transcription	NHEK	skin
47	chr4:148704000-148706400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:148704000-148706400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr4:148704000-148706400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr4:148704000-148706400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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