Variant report

Variant	nsv290570
Chromosome Location	chr4:3393484-3393550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3391760..3394372-chr4:3396180..3399240,3	K562	blood:
2	chr4:3388256..3390546-chr4:3393263..3395293,2	MCF-7	breast:
3	chr4:3386670..3388644-chr4:3392209..3394600,2	MCF-7	breast:
4	chr4:3391661..3394248-chr4:3394902..3396855,2	MCF-7	breast:
5	chr4:3391529..3394240-chr4:3404646..3406512,2	K562	blood:

Variant related genes	Relation type
ENSG00000159788	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 55 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561223961	chr4:3393488-3393489	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs6446734	chr4:3393529-3393530	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

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
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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3386600-3393800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:3386800-3393600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr4:3386800-3393600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:3386800-3395800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:3388000-3394400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:3388400-3393600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:3388600-3394400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:3388800-3394400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:3389200-3395000	Weak transcription	HepG2	liver
10	chr4:3389200-3403400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:3390000-3404600	Weak transcription	Left Ventricle	heart
12	chr4:3390000-3417200	Weak transcription	Gastric	stomach
13	chr4:3390200-3394200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr4:3390200-3398600	Weak transcription	Brain Angular Gyrus	brain
15	chr4:3391000-3394000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:3391000-3398000	Weak transcription	Fetal Brain Female	brain
17	chr4:3391000-3404600	Weak transcription	Aorta	Aorta
18	chr4:3391000-3414000	Weak transcription	Primary T cells from cord blood	blood
19	chr4:3391200-3396800	Weak transcription	NHLF	lung
20	chr4:3391200-3398800	Weak transcription	Right Atrium	heart
21	chr4:3391400-3407400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:3391400-3408800	Weak transcription	Ovary	ovary
23	chr4:3391600-3394000	Weak transcription	Osteobl	bone
24	chr4:3391600-3395200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:3391600-3397800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:3391600-3399200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:3391600-3404000	Weak transcription	HSMMtube	muscle
28	chr4:3391600-3407800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr4:3391800-3398000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:3391800-3401400	Weak transcription	Liver	Liver
31	chr4:3391800-3403000	Weak transcription	HMEC	breast
32	chr4:3391800-3403400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr4:3391800-3424200	Weak transcription	Colonic Mucosa	Colon
34	chr4:3392000-3393600	Weak transcription	Fetal Kidney	kidney
35	chr4:3392000-3394000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr4:3392000-3395000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:3392000-3395000	Weak transcription	GM12878-XiMat	blood
38	chr4:3392000-3396800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:3392000-3398000	Weak transcription	Fetal Lung	lung
40	chr4:3392000-3417200	Weak transcription	Pancreas	Pancrea
41	chr4:3392200-3394400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:3392200-3395000	Weak transcription	Fetal Thymus	thymus
43	chr4:3392200-3397000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:3392400-3395400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:3392400-3397800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr4:3392400-3403200	Weak transcription	Fetal Intestine Small	intestine
47	chr4:3392400-3409800	Weak transcription	Spleen	Spleen
48	chr4:3392600-3393600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:3392600-3393800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr4:3392600-3393800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links