Variant report

Variant	esv3338794
Chromosome Location	chr4:3360304-3361852
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	chr4:3356602..3361196-chr4:3388835..3391854,4	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149630362	chr4:3360357-3360358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530310154	chr4:3360369-3360370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546864154	chr4:3360418-3360419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542001158	chr4:3360426-3360427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532498400	chr4:3360506-3360507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112684500	chr4:3360524-3360525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144393235	chr4:3360561-3360562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563485608	chr4:3360592-3360593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530769399	chr4:3360617-3360618	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs115827532	chr4:3360623-3360624	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs371578665	chr4:3360630-3360631	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs75268064	chr4:3360636-3360637	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs551985404	chr4:3360648-3360649	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs116706125	chr4:3360649-3360650	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs114027167	chr4:3360678-3360679	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs188834942	chr4:3360915-3360916	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564234635	chr4:3361054-3361055	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs181215352	chr4:3361078-3361079	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs563976791	chr4:3361109-3361110	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150468641	chr4:3361132-3361133	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs75399426	chr4:3361148-3361149	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558314355	chr4:3361151-3361152	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs374361787	chr4:3361222-3361223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575286648	chr4:3361250-3361251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377308850	chr4:3361273-3361274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543934090	chr4:3361278-3361279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554268083	chr4:3361300-3361301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112468917	chr4:3361345-3361346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202103253	chr4:3361355-3361356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201746513	chr4:3361356-3361357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571450247	chr4:3361409-3361410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528059859	chr4:3361425-3361426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113480749	chr4:3361487-3361488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560793796	chr4:3361502-3361503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532741824	chr4:3361505-3361506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140268703	chr4:3361506-3361507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112837940	chr4:3361523-3361524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs147362143	chr4:3361539-3361540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185316949	chr4:3361541-3361542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568584100	chr4:3361546-3361547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111336426	chr4:3361569-3361570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191200560	chr4:3361592-3361593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113390633	chr4:3361602-3361603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538595034	chr4:3361630-3361631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112450367	chr4:3361636-3361637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576220481	chr4:3361656-3361657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568538914	chr4:3361658-3361659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140833285	chr4:3361695-3361696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112582712	chr4:3361700-3361701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs386670679	chr4:3361731-3361732	Weak transcription Enhancers	n/a	n/a	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:64 , 50 per page) page: 1 2

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	chr4:3347400-3360800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:3347400-3364800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:3348200-3367400	Weak transcription	Fetal Heart	heart
9	chr4:3348400-3360600	Weak transcription	HSMM	muscle
10	chr4:3348400-3367600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:3350400-3364000	Weak transcription	Spleen	Spleen
12	chr4:3350800-3364200	Weak transcription	Pancreas	Pancrea
13	chr4:3350800-3367600	Weak transcription	Ovary	ovary
14	chr4:3352400-3363200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:3354200-3363800	Weak transcription	Brain Germinal Matrix	brain
16	chr4:3354600-3364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:3354800-3368200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr4:3355000-3367800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:3355200-3368400	Weak transcription	Fetal Intestine Small	intestine
20	chr4:3356000-3361600	Weak transcription	Lung	lung
21	chr4:3356000-3365000	Weak transcription	Fetal Stomach	stomach
22	chr4:3356600-3364200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:3356600-3368000	Weak transcription	Fetal Intestine Large	intestine
24	chr4:3357600-3361200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:3358200-3367800	Weak transcription	HepG2	liver
26	chr4:3358800-3369000	Weak transcription	Fetal Lung	lung
27	chr4:3359400-3360600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr4:3359800-3361400	Enhancers	HUVEC	blood vessel
29	chr4:3360000-3360400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr4:3360000-3360400	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr4:3360000-3360600	Enhancers	A549	lung
32	chr4:3360000-3360600	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr4:3360200-3360400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:3360200-3361000	Enhancers	Fetal Brain Male	brain
35	chr4:3360400-3360600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:3360400-3361200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:3360400-3361600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:3360400-3370000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:3360600-3361200	Flanking Active TSS	HSMM	muscle
40	chr4:3360600-3364600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:3360600-3365200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr4:3360600-3370000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:3360800-3361200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr4:3361000-3361400	Weak transcription	Fetal Brain Male	brain
45	chr4:3361200-3361400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr4:3361200-3361400	Enhancers	HSMM	muscle
47	chr4:3361200-3361600	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr4:3361200-3361600	Enhancers	Primary T cells from cord blood	blood
49	chr4:3361200-3361600	Enhancers	Primary hematopoietic stem cells	blood
50	chr4:3361200-3366200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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