Variant report

Variant	esv3373442
Chromosome Location	chr4:3359579-3362527
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	chr4:3362461..3364833-chr4:3423756..3426600,2	MCF-7	breast:
2	chr4:3356602..3361196-chr4:3388835..3391854,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159788	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80174683	chr4:3359581-3359582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545117205	chr4:3359587-3359588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559368665	chr4:3359645-3359646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79081785	chr4:3359690-3359691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539971237	chr4:3359701-3359702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184041958	chr4:3359715-3359716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550769512	chr4:3359717-3359718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114582609	chr4:3359756-3359757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150871906	chr4:3359762-3359763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74995096	chr4:3359763-3359764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76813136	chr4:3359811-3359812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538681047	chr4:3359837-3359838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552606796	chr4:3359839-3359840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186796306	chr4:3359875-3359876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2749787	chr4:3359899-3359900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368887526	chr4:3359909-3359910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201173198	chr4:3359958-3359959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192168477	chr4:3359970-3359971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557240912	chr4:3359987-3359988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138295232	chr4:3360045-3360046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561376041	chr4:3360049-3360050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185848584	chr4:3360073-3360074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552982969	chr4:3360144-3360145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7677740	chr4:3360157-3360158	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs116335637	chr4:3360169-3360170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190367084	chr4:3360209-3360210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182086342	chr4:3360213-3360214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184393637	chr4:3360219-3360220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369063542	chr4:3360252-3360253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149630362	chr4:3360357-3360358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530310154	chr4:3360369-3360370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546864154	chr4:3360418-3360419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542001158	chr4:3360426-3360427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532498400	chr4:3360506-3360507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112684500	chr4:3360524-3360525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144393235	chr4:3360561-3360562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563485608	chr4:3360592-3360593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530769399	chr4:3360617-3360618	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs115827532	chr4:3360623-3360624	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs371578665	chr4:3360630-3360631	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs75268064	chr4:3360636-3360637	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs551985404	chr4:3360648-3360649	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs116706125	chr4:3360649-3360650	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs114027167	chr4:3360678-3360679	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs188834942	chr4:3360915-3360916	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs564234635	chr4:3361054-3361055	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs181215352	chr4:3361078-3361079	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs563976791	chr4:3361109-3361110	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs150468641	chr4:3361132-3361133	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs75399426	chr4:3361148-3361149	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	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:78 , 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	chr4:3356400-3360000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:3356600-3364200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:3356600-3368000	Weak transcription	Fetal Intestine Large	intestine
25	chr4:3357400-3360000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:3357600-3359800	Weak transcription	Liver	Liver
27	chr4:3357600-3359800	Weak transcription	HUVEC	blood vessel
28	chr4:3357600-3360000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr4:3357600-3361200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr4:3358200-3367800	Weak transcription	HepG2	liver
31	chr4:3358800-3369000	Weak transcription	Fetal Lung	lung
32	chr4:3359400-3359800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr4:3359400-3360600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr4:3359600-3359800	Weak transcription	Primary T cells from cord blood	blood
35	chr4:3359600-3359800	Weak transcription	Fetal Brain Male	brain
36	chr4:3359800-3360200	Enhancers	Liver	Liver
37	chr4:3359800-3361400	Enhancers	HUVEC	blood vessel
38	chr4:3360000-3360400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr4:3360000-3360400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr4:3360000-3360600	Enhancers	A549	lung
41	chr4:3360000-3360600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr4:3360200-3360400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:3360200-3361000	Enhancers	Fetal Brain Male	brain
44	chr4:3360400-3360600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:3360400-3361200	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr4:3360400-3361600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:3360400-3370000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:3360600-3361200	Flanking Active TSS	HSMM	muscle
49	chr4:3360600-3364600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:3360600-3365200	Weak transcription	Monocytes-CD14+_RO01746	blood

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