Variant report

Variant	nsv441934
Chromosome Location	chr4:187862193-187878503
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:187867875..187869719-chr4:187871363..187873618,2	MCF-7	breast:
2	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:
3	chr4:187648031..187648672-chr4:187867515..187868384,2	MCF-7	breast:
4	chr4:187867875..187869719-chr4:187871363..187873618,2	MCF-7	breast:
5	chr4:187646857..187647583-chr4:187867241..187868105,3	MCF-7	breast:
6	chr4:187658603..187659281-chr4:187867789..187868472,2	MCF-7	breast:
7	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:
8	chr4:187645972..187647664-chr4:187867143..187868450,8	MCF-7	breast:
9	chr4:187641888..187650885-chr4:187865376..187870322,9	MCF-7	breast:
10	chr4:187644629..187648780-chr4:187865976..187870182,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083857	chromatin interactions

Extended variants
information (count: 690 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:690 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12508027	chr4:187862197-187862198	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148812576	chr4:187862206-187862207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144049026	chr4:187862244-187862245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116764766	chr4:187862258-187862259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530829845	chr4:187862266-187862267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550855939	chr4:187862269-187862270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373429404	chr4:187862281-187862282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570084302	chr4:187862283-187862284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535823700	chr4:187862302-187862303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555712627	chr4:187862321-187862322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566079663	chr4:187862353-187862354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535113100	chr4:187862378-187862379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200370011	chr4:187862384-187862385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558069125	chr4:187862413-187862414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577772409	chr4:187862419-187862420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565277684	chr4:187862422-187862423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369428090	chr4:187862441-187862442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75095466	chr4:187862512-187862513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186202435	chr4:187862513-187862514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12508889	chr4:187862518-187862519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs80196606	chr4:187862526-187862527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542292333	chr4:187862616-187862617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377124781	chr4:187862653-187862654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7442588	chr4:187862709-187862710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559293007	chr4:187862715-187862716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528222741	chr4:187862723-187862724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545042204	chr4:187862740-187862741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190259348	chr4:187862743-187862744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530691928	chr4:187862749-187862750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532493372	chr4:187862750-187862751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550917332	chr4:187862894-187862895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181712682	chr4:187862898-187862899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568460516	chr4:187862936-187862937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140680625	chr4:187863004-187863005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559610040	chr4:187863017-187863018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145782781	chr4:187863036-187863037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535995064	chr4:187863058-187863059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553960316	chr4:187863115-187863116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534815139	chr4:187863147-187863148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185835245	chr4:187863211-187863212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572629103	chr4:187863261-187863262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191024364	chr4:187863266-187863267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183164656	chr4:187863351-187863352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201485749	chr4:187863375-187863376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537131836	chr4:187863376-187863377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138499679	chr4:187863401-187863402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539618058	chr4:187863458-187863459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574036749	chr4:187863468-187863469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372915263	chr4:187863486-187863487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536949865	chr4:187863537-187863538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187837200-187863800	Weak transcription	Right Atrium	heart
2	chr4:187855000-187864000	Weak transcription	HSMMtube	muscle
3	chr4:187855200-187863600	Weak transcription	Fetal Heart	heart
4	chr4:187857200-187864000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:187857400-187863800	Weak transcription	Pancreas	Pancrea
6	chr4:187857400-187863800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:187857400-187864200	Weak transcription	Colonic Mucosa	Colon
8	chr4:187858200-187864200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:187858400-187862200	Enhancers	HepG2	liver
10	chr4:187858400-187862400	Weak transcription	Fetal Lung	lung
11	chr4:187858400-187863600	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:187858400-187863800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:187858400-187867200	Weak transcription	Liver	Liver
14	chr4:187858600-187863800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:187858600-187863800	Weak transcription	Fetal Kidney	kidney
16	chr4:187858600-187863800	Weak transcription	HSMM	muscle
17	chr4:187858600-187864400	Weak transcription	NHLF	lung
18	chr4:187858600-187874800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:187858800-187863800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:187858800-187863800	Weak transcription	Adipose Nuclei	Adipose
21	chr4:187858800-187864000	Weak transcription	Osteobl	bone
22	chr4:187858800-187864200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:187858800-187864200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:187858800-187869400	Weak transcription	NH-A	brain
25	chr4:187859200-187863600	Weak transcription	Fetal Intestine Large	intestine
26	chr4:187859200-187863800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr4:187859400-187864000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:187860400-187866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:187860600-187867000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:187860800-187863000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:187861000-187863600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:187861000-187864000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:187861200-187864000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:187862000-187863800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:187862000-187870000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:187862200-187863600	Weak transcription	HepG2	liver
37	chr4:187862200-187864200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:187862400-187862600	Enhancers	Fetal Lung	lung
39	chr4:187862600-187863400	Weak transcription	Fetal Lung	lung
40	chr4:187863000-187865600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr4:187863400-187865200	Enhancers	Fetal Lung	lung
42	chr4:187863600-187864400	Enhancers	Colon Smooth Muscle	Colon
43	chr4:187863600-187864400	Enhancers	HepG2	liver
44	chr4:187863600-187865000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:187863600-187865000	Enhancers	Fetal Heart	heart
46	chr4:187863600-187866200	Enhancers	Fetal Intestine Large	intestine
47	chr4:187863600-187868400	Enhancers	Fetal Intestine Small	intestine
48	chr4:187863800-187864400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:187863800-187864400	Enhancers	Adipose Nuclei	Adipose
50	chr4:187863800-187864600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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