Variant report

Variant	esv3360977
Chromosome Location	chr4:3362254-3365952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3362735..3364977-chr4:3371568..3374797,3	MCF-7	breast:
2	chr4:3354561..3356756-chr4:3362854..3364509,2	MCF-7	breast:
3	chr4:3365688..3366496-chr4:3463170..3464043,2	MCF-7	breast:
4	chr4:3365608..3368928-chr4:3369932..3375344,5	MCF-7	breast:
5	chr4:3365147..3366815-chr4:3405868..3408460,2	MCF-7	breast:
6	chr4:3362461..3364833-chr4:3423756..3426600,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159788	chromatin interactions

Extended variants
information (count: 208 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75741501	chr4:3362278-3362279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187583212	chr4:3362318-3362319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114760263	chr4:3362356-3362357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145646555	chr4:3362362-3362363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190444732	chr4:3362383-3362384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577339550	chr4:3362388-3362389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538869028	chr4:3362454-3362455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79488167	chr4:3362460-3362461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28553925	chr4:3362481-3362482	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs182709492	chr4:3362532-3362533	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79688756	chr4:3362533-3362534	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542240101	chr4:3362535-3362536	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562103303	chr4:3362606-3362607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572552473	chr4:3362624-3362625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs114798689	chr4:3362650-3362651	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs564623882	chr4:3362690-3362691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs141181877	chr4:3362715-3362716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187124214	chr4:3362739-3362740	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs552354873	chr4:3362787-3362788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562441936	chr4:3362812-3362813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374856359	chr4:3362862-3362863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531541230	chr4:3362892-3362893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547768806	chr4:3362893-3362894	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567747542	chr4:3362909-3362910	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs533806837	chr4:3362938-3362939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192805334	chr4:3362958-3362959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184222774	chr4:3362959-3362960	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539599520	chr4:3362990-3362991	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187742474	chr4:3363024-3363025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs4690087	chr4:3363031-3363032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs536185810	chr4:3363035-3363036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555775315	chr4:3363053-3363054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572319974	chr4:3363136-3363137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs202177743	chr4:3363152-3363153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs557947345	chr4:3363154-3363155	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541427421	chr4:3363183-3363184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144969348	chr4:3363258-3363259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs573319823	chr4:3363275-3363276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs578085771	chr4:3363285-3363286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545586492	chr4:3363307-3363308	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562378307	chr4:3363331-3363332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146795112	chr4:3363339-3363340	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs372180589	chr4:3363348-3363349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs193122948	chr4:3363356-3363357	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561664259	chr4:3363387-3363388	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs140606237	chr4:3363388-3363389	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs78987758	chr4:3363400-3363401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs570451103	chr4:3363418-3363419	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533088433	chr4:3363442-3363443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs550379240	chr4:3363456-3363457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3334000-3370600	Weak transcription	Right Atrium	heart
2	chr4:3344400-3362400	Weak transcription	HSMMtube	muscle
3	chr4:3344400-3367600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:3346600-3363800	Weak transcription	Fetal Brain Female	brain
5	chr4:3346600-3364600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:3347400-3364800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:3348200-3367400	Weak transcription	Fetal Heart	heart
8	chr4:3348400-3367600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:3350400-3364000	Weak transcription	Spleen	Spleen
10	chr4:3350800-3364200	Weak transcription	Pancreas	Pancrea
11	chr4:3350800-3367600	Weak transcription	Ovary	ovary
12	chr4:3352400-3363200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:3354200-3363800	Weak transcription	Brain Germinal Matrix	brain
14	chr4:3354600-3364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr4:3354800-3368200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr4:3355000-3367800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:3355200-3368400	Weak transcription	Fetal Intestine Small	intestine
18	chr4:3356000-3365000	Weak transcription	Fetal Stomach	stomach
19	chr4:3356600-3364200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:3356600-3368000	Weak transcription	Fetal Intestine Large	intestine
21	chr4:3358200-3367800	Weak transcription	HepG2	liver
22	chr4:3358800-3369000	Weak transcription	Fetal Lung	lung
23	chr4:3360400-3370000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:3360600-3364600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:3360600-3365200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr4:3360600-3370000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:3361200-3366200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:3361400-3370000	Weak transcription	HSMM	muscle
29	chr4:3361600-3364200	Weak transcription	Fetal Brain Male	brain
30	chr4:3361600-3364400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr4:3361600-3365000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:3361600-3365200	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr4:3361600-3365200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:3361600-3365400	Weak transcription	Primary T cells from cord blood	blood
35	chr4:3361800-3366000	Weak transcription	Lung	lung
36	chr4:3362200-3363000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:3362400-3362600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:3362400-3362800	Enhancers	HSMMtube	muscle
39	chr4:3362400-3363000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:3362400-3363200	Enhancers	Fetal Kidney	kidney
41	chr4:3362600-3362800	Enhancers	Brain Hippocampus Middle	brain
42	chr4:3362600-3363600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:3362800-3365600	Weak transcription	Brain Hippocampus Middle	brain
44	chr4:3362800-3369200	Weak transcription	HSMMtube	muscle
45	chr4:3363000-3363400	Enhancers	Esophagus	oesophagus
46	chr4:3363000-3364600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:3363000-3365200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr4:3363200-3363800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:3363200-3364200	Weak transcription	Fetal Kidney	kidney
50	chr4:3363400-3363600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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