Variant report

Variant	nsv594940
Chromosome Location	chr4:99542475-99573350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:99465722..99468319-chr4:99566226..99568875,2	MCF-7	breast:
2	chr4:99565530..99567137-chr4:99836060..99837729,2	K562	blood:
3	chr4:99548903..99550666-chr4:99562029..99564226,2	K562	blood:
4	chr4:99551429..99553596-chr4:99563119..99565613,2	K562	blood:
5	chr4:99548903..99550666-chr4:99562029..99564226,2	K562	blood:
6	chr4:99547655..99549957-chr4:99555367..99557808,2	K562	blood:
7	chr4:99551429..99553596-chr4:99563119..99565613,2	K562	blood:
8	chr4:99547655..99549957-chr4:99555367..99557808,2	K562	blood:
9	chr4:99557681..99559185-chr4:99577351..99579411,2	K562	blood:
10	chr16:75402989..75403657-chr4:99558827..99559504,2	MCF-7	breast:
11	chr4:99537720..99540148-chr4:99541688..99544622,2	K562	blood:
12	chr4:99566031..99568525-chr4:99568795..99571513,2	MCF-7	breast:
13	chr4:99566031..99568525-chr4:99568795..99571513,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168785	chromatin interactions

Extended variants
information (count: 1141 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1141 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6819238	chr4:99542475-99542476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576939215	chr4:99542494-99542495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374568006	chr4:99542516-99542517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs59414794	chr4:99542535-99542536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570279817	chr4:99542549-99542550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528293770	chr4:99542579-99542580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6842722	chr4:99542605-99542606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs370949957	chr4:99542639-99542640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543654156	chr4:99542663-99542664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561839896	chr4:99542664-99542665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572075056	chr4:99542667-99542668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545855495	chr4:99542675-99542676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574115341	chr4:99542709-99542710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531893933	chr4:99542740-99542741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550212466	chr4:99542741-99542742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568097678	chr4:99542749-99542750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190808173	chr4:99542765-99542766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529606057	chr4:99542777-99542778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535421111	chr4:99542781-99542782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375377429	chr4:99542788-99542789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541046431	chr4:99542798-99542799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559720892	chr4:99542799-99542800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568872198	chr4:99542811-99542812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540096532	chr4:99542829-99542830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146763607	chr4:99542863-99542864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537997196	chr4:99542886-99542887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376751223	chr4:99542903-99542904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574432781	chr4:99542930-99542931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373904542	chr4:99542939-99542940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535342095	chr4:99542945-99542946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553374506	chr4:99542946-99542947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140323879	chr4:99542947-99542948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145464051	chr4:99542948-99542949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564163013	chr4:99542986-99542987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34344408	chr4:99542989-99542990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76261768	chr4:99542998-99542999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183068694	chr4:99543024-99543025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562254349	chr4:99543032-99543033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72908162	chr4:99543036-99543037	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541715196	chr4:99543080-99543081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562700869	chr4:99543137-99543138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs36045225	chr4:99543166-99543167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs137959178	chr4:99543200-99543201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533315558	chr4:99543217-99543218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149058510	chr4:99543273-99543274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186453950	chr4:99543287-99543288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530898932	chr4:99543340-99543341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6848644	chr4:99543345-99543346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527557614	chr4:99543354-99543355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567886508	chr4:99543358-99543359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:941 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99523000-99545000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:99529600-99543200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr4:99531000-99544200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr4:99532600-99545400	Weak transcription	HMEC	breast
5	chr4:99534400-99543200	Weak transcription	Thymus	Thymus
6	chr4:99535400-99544200	Weak transcription	NHEK	skin
7	chr4:99535600-99554200	Enhancers	Brain Substantia Nigra	brain
8	chr4:99536200-99545800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:99537600-99544800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:99538200-99542600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:99538400-99543800	Enhancers	Brain Anterior Caudate	brain
12	chr4:99539000-99546400	Weak transcription	Fetal Thymus	thymus
13	chr4:99539000-99547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:99539200-99543400	Weak transcription	NHDF-Ad	bronchial
15	chr4:99539200-99544200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:99539200-99544200	Weak transcription	Osteobl	bone
17	chr4:99539200-99545400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:99539200-99546000	Weak transcription	Fetal Heart	heart
19	chr4:99539200-99546600	Weak transcription	HSMM	muscle
20	chr4:99539200-99547200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:99539200-99547200	Weak transcription	Right Atrium	heart
22	chr4:99539200-99547600	Weak transcription	Gastric	stomach
23	chr4:99539200-99547600	Weak transcription	Left Ventricle	heart
24	chr4:99539200-99547600	Weak transcription	Right Ventricle	heart
25	chr4:99539200-99547800	Weak transcription	Fetal Stomach	stomach
26	chr4:99540000-99547400	Weak transcription	Fetal Lung	lung
27	chr4:99540400-99542600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:99540400-99543600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:99541000-99543200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:99541000-99544000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:99541600-99542800	Weak transcription	Ovary	ovary
32	chr4:99541800-99543200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:99541800-99543400	Weak transcription	NHLF	lung
34	chr4:99541800-99543600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:99541800-99543800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:99541800-99543800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:99541800-99546800	Weak transcription	Fetal Brain Female	brain
38	chr4:99542000-99543200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:99542000-99543400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:99542000-99543600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:99542000-99543800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr4:99542000-99543800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:99542000-99543800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr4:99542000-99543800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr4:99542000-99544200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:99542000-99544200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr4:99542000-99544400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr4:99542000-99544800	Weak transcription	NH-A	brain
49	chr4:99542000-99546400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr4:99542000-99546400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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