Variant report

Variant	nsv980420
Chromosome Location	chr4:26739573-26743657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:26740334..26741206-chr4:26792211..26793115,2	MCF-7	breast:
2	chr4:26740436..26743401-chr4:26743802..26745390,2	K562	blood:
3	chr4:26739035..26741086-chr4:26857900..26860089,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109689	chromatin interactions

Extended variants
information (count: 132 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553835683	chr4:26739584-26739585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192453007	chr4:26739593-26739594	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12507314	chr4:26739764-26739765	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556877546	chr4:26739779-26739780	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs552547535	chr4:26739806-26739807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576834415	chr4:26739834-26739835	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs542531266	chr4:26739842-26739843	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs184870673	chr4:26739856-26739857	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs527893862	chr4:26739882-26739883	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541164877	chr4:26740004-26740005	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs564282823	chr4:26740053-26740054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533141987	chr4:26740091-26740092	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs4588445	chr4:26740132-26740133	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368528437	chr4:26740163-26740164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370211466	chr4:26740185-26740186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374237936	chr4:26740237-26740238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189901800	chr4:26740249-26740250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561875815	chr4:26740263-26740264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569740333	chr4:26740285-26740286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs531470985	chr4:26740303-26740304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368186599	chr4:26740335-26740336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548475417	chr4:26740362-26740363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568117882	chr4:26740418-26740419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs534039173	chr4:26740428-26740429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538892863	chr4:26740441-26740442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs62299026	chr4:26740531-26740532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs570593261	chr4:26740595-26740596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs193189784	chr4:26740617-26740618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185240618	chr4:26740651-26740652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75111367	chr4:26740656-26740657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147790424	chr4:26740678-26740679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs535114928	chr4:26740700-26740701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372095844	chr4:26740718-26740719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs62299027	chr4:26740722-26740723	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572540111	chr4:26740746-26740747	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189740253	chr4:26740750-26740751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564220062	chr4:26740777-26740778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs181297856	chr4:26740786-26740787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543527873	chr4:26740804-26740805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs575068830	chr4:26740809-26740810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563305262	chr4:26740819-26740820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529293755	chr4:26740866-26740867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368508998	chr4:26740899-26740900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548186820	chr4:26741001-26741002	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568382259	chr4:26741029-26741030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527477469	chr4:26741036-26741037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs547594771	chr4:26741046-26741047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs115877427	chr4:26741083-26741084	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs4588446	chr4:26741120-26741121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185161299	chr4:26741241-26741242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26696200-26775400	Weak transcription	Brain Germinal Matrix	brain
2	chr4:26705400-26753200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:26709000-26750000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:26711200-26745200	Weak transcription	Fetal Intestine Large	intestine
5	chr4:26711200-26750000	Weak transcription	Adipose Nuclei	Adipose
6	chr4:26711400-26771800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:26711600-26746200	Weak transcription	Dnd41	blood
8	chr4:26716200-26750200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:26716800-26748400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:26718000-26754400	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:26719200-26743200	Weak transcription	NHLF	lung
12	chr4:26719200-26744400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:26719400-26780800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:26719600-26749800	Weak transcription	HMEC	breast
15	chr4:26720400-26750000	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:26722200-26743600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:26722600-26748800	Weak transcription	Primary B cells from cord blood	blood
18	chr4:26722600-26758800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:26723000-26744800	Weak transcription	Brain Anterior Caudate	brain
20	chr4:26723400-26781000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:26723600-26764200	Weak transcription	Fetal Intestine Small	intestine
22	chr4:26724000-26772000	Weak transcription	Brain Angular Gyrus	brain
23	chr4:26726400-26744600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:26726800-26750200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr4:26726800-26751000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:26727200-26756600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr4:26727400-26773800	Weak transcription	Left Ventricle	heart
28	chr4:26727400-26775400	Weak transcription	Right Ventricle	heart
29	chr4:26728000-26742400	Weak transcription	Fetal Lung	lung
30	chr4:26729200-26743000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:26729200-26750200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:26731600-26743800	Weak transcription	HSMM	muscle
33	chr4:26732600-26743000	Weak transcription	Fetal Stomach	stomach
34	chr4:26732600-26750000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr4:26732600-26773800	Weak transcription	Aorta	Aorta
36	chr4:26732800-26750200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:26733000-26744400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:26733000-26744800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:26733000-26755000	Weak transcription	NH-A	brain
40	chr4:26734000-26750000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr4:26734000-26750000	Weak transcription	Osteobl	bone
42	chr4:26734200-26751000	Weak transcription	Thymus	Thymus
43	chr4:26734600-26742000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr4:26734600-26743000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:26735000-26742200	Weak transcription	Fetal Thymus	thymus
46	chr4:26736400-26754200	Weak transcription	Fetal Heart	heart
47	chr4:26737800-26755400	Weak transcription	Right Atrium	heart
48	chr4:26738600-26744200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:26738600-26758400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:26738800-26743000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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