Variant report

Variant	nsv1025652
Chromosome Location	chr4:188209801-188230704
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:2)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:188218935..188220617-chr4:188223273..188225640,2	K562	blood:
2	chr4:188218935..188220617-chr4:188223273..188225640,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAT1-3	chr4:188225237-188225621	XLOC_004217
2	lnc-FAT1-3	chr4:188225792-188226855	XLOC_004217
3	lnc-FAT1-3	chr4:188228260-188228423	XLOC_004217
4	lnc-FAT1-3	chr4:188230336-188230836	XLOC_004217
5	lnc-ZFP42-13	chr4:188228509-188228694	NONHSAT099691

No data

Extended variants
information (count: 922 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:922 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13126689	chr4:188209801-188209802	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182079735	chr4:188209802-188209803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13126500	chr4:188209814-188209815	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs563561286	chr4:188209826-188209827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562997287	chr4:188209881-188209882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185423020	chr4:188209917-188209918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs56070525	chr4:188209918-188209919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561765584	chr4:188209965-188209966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558029423	chr4:188209979-188209980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28437922	chr4:188210093-188210094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs540492627	chr4:188210127-188210128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28521342	chr4:188210130-188210131	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs533560074	chr4:188210148-188210149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28520888	chr4:188210155-188210156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs28604518	chr4:188210203-188210204	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs55665695	chr4:188210213-188210214	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs28722685	chr4:188210223-188210224	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs28431376	chr4:188210225-188210226	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs571554065	chr4:188210237-188210238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77150373	chr4:188210241-188210242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34331587	chr4:188210259-188210260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558024745	chr4:188210280-188210281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577907205	chr4:188210292-188210293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543557350	chr4:188210294-188210295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75629180	chr4:188210295-188210296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56404338	chr4:188210302-188210303	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs80088535	chr4:188210325-188210326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75583668	chr4:188210341-188210342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76421544	chr4:188210343-188210344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10002005	chr4:188210360-188210361	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs140110839	chr4:188210425-188210426	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs189782547	chr4:188210426-188210427	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs55765620	chr4:188210427-188210428	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs115581551	chr4:188210438-188210439	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs568857511	chr4:188210456-188210457	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182727234	chr4:188210457-188210458	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs58655410	chr4:188210511-188210512	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs11935448	chr4:188210592-188210593	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534598189	chr4:188210602-188210603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557472290	chr4:188210617-188210618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571478464	chr4:188210619-188210620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35768492	chr4:188210621-188210622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs201311444	chr4:188210626-188210627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs71201420	chr4:188210648-188210649	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs34007530	chr4:188210682-188210683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs28567978	chr4:188210706-188210707	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs187059803	chr4:188210724-188210725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371484610	chr4:188210726-188210727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540977398	chr4:188210793-188210794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71244959	chr4:188210857-188210858	Weak transcription Enhancers Flanking Active TSS	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20808228	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:188205000-188210200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:188205000-188210200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:188205000-188210400	Weak transcription	Osteobl	bone
4	chr4:188208200-188210400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:188208600-188210200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:188209600-188211000	Enhancers	Fetal Intestine Large	intestine
7	chr4:188210200-188210400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:188210200-188210600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:188210200-188211000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:188210200-188211000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:188210200-188211000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:188210400-188210600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr4:188210400-188210600	Enhancers	Osteobl	bone
14	chr4:188210400-188210800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:188210400-188211000	Enhancers	NHEK	skin
16	chr4:188210600-188210800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:188210600-188212200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:188210800-188211000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr4:188210800-188216200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:188211000-188211600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:188211000-188215400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:188211000-188215600	Weak transcription	NHEK	skin
23	chr4:188211600-188216000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr4:188212200-188212600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:188212600-188217200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:188215200-188216400	Enhancers	Fetal Lung	lung
27	chr4:188215400-188215600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:188215400-188215600	Enhancers	Fetal Stomach	stomach
29	chr4:188215400-188216600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:188215600-188216200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:188215600-188216600	Enhancers	NHEK	skin
32	chr4:188216000-188216400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:188216200-188216400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:188216200-188216400	Enhancers	Fetal Stomach	stomach
35	chr4:188216200-188216600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr4:188216200-188216600	Enhancers	HMEC	breast
37	chr4:188216200-188216800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr4:188216400-188223000	Weak transcription	Fetal Lung	lung
39	chr4:188216800-188217400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr4:188217200-188217400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:188217200-188217800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:188217200-188217800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:188217400-188218000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:188217800-188230400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr4:188218000-188218600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:188218600-188227600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:188218600-188234000	Weak transcription	Aorta	Aorta
48	chr4:188219600-188219800	Enhancers	Fetal Kidney	kidney
49	chr4:188219800-188223600	Weak transcription	Fetal Kidney	kidney
50	chr4:188223000-188223400	Enhancers	Fetal Lung	lung

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