Variant report

Variant	nsv1009499
Chromosome Location	chr4:127532856-127659010
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:99)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:99 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:127646443..127648760-chr4:127651080..127655752,5	K562	blood:
2	chr4:127653930..127656479-chr4:127687621..127689645,2	K562	blood:
3	chr4:127525348..127527561-chr4:127531940..127533936,2	K562	blood:
4	chr4:127632853..127635045-chr4:127653984..127656445,2	K562	blood:
5	chr4:127605123..127609029-chr4:127609783..127616585,6	K562	blood:
6	chr4:127646443..127648760-chr4:127651080..127655752,5	K562	blood:
7	chr4:127638974..127640928-chr4:127641015..127644597,3	K562	blood:
8	chr4:127605644..127607876-chr4:127610185..127613110,2	K562	blood:
9	chr4:127649446..127654981-chr4:127658045..127662615,6	K562	blood:
10	chr4:127568487..127570733-chr4:127580195..127582712,2	K562	blood:
11	chr4:127580213..127582009-chr4:127585338..127587465,3	K562	blood:
12	chr4:127656785..127658564-chr4:127670907..127672656,2	K562	blood:
13	chr4:127655557..127658334-chr4:127703330..127706969,3	K562	blood:
14	chr4:127548164..127549529-chr4:128045945..128046997,5	MCF-7	breast:
15	chr4:127568487..127570733-chr4:127580195..127582712,2	K562	blood:
16	chr4:127648038..127650424-chr4:127651439..127654033,3	K562	blood:
17	chr4:127599658..127602443-chr4:127608729..127610519,2	K562	blood:
18	chr4:127654180..127661020-chr4:127693803..127700410,12	K562	blood:
19	chr4:127548162..127549915-chr4:127554441..127556148,2	K562	blood:
20	chr4:127628211..127630897-chr4:127699416..127701200,2	K562	blood:
21	chr4:127621513..127624552-chr4:127627027..127630786,3	K562	blood:
22	chr4:127608126..127611667-chr4:127611827..127616357,6	K562	blood:
23	chr4:127620374..127622930-chr4:127624582..127626551,2	K562	blood:
24	chr4:127621500..127623013-chr4:127629286..127631384,2	K562	blood:
25	chr4:127612355..127614556-chr4:127616076..127617793,2	K562	blood:
26	chr4:127640714..127642968-chr4:127649677..127651591,2	K562	blood:
27	chr4:127564763..127567671-chr4:127569805..127572802,3	K562	blood:
28	chr4:127654312..127657271-chr4:127664785..127667908,3	K562	blood:
29	chr4:127652170..127654874-chr4:127875964..127880032,4	K562	blood:
30	chr4:127640714..127642968-chr4:127649677..127651591,2	K562	blood:
31	chr4:127654180..127658212-chr4:127693803..127700290,9	K562	blood:
32	chr4:127644087..127646502-chr4:127651699..127653742,2	K562	blood:
33	chr4:127545018..127547508-chr4:127549655..127552458,2	K562	blood:
34	chr4:127642487..127645698-chr4:127876053..127878799,3	K562	blood:
35	chr4:127627173..127629284-chr4:127634747..127636563,2	K562	blood:
36	chr4:127580213..127582009-chr4:127585338..127587465,3	K562	blood:
37	chr4:127527862..127530808-chr4:127533552..127535543,3	K562	blood:
38	chr4:127608126..127611667-chr4:127611827..127616357,6	K562	blood:
39	chr4:127656968..127658978-chr4:127715572..127717474,3	K562	blood:
40	chr4:127599658..127603060-chr4:127607594..127612436,4	K562	blood:
41	chr4:127564532..127567081-chr4:127569266..127571202,2	K562	blood:
42	chr4:127648038..127650424-chr4:127651439..127654033,3	K562	blood:
43	chr4:127571128..127573316-chr4:127581338..127584055,2	K562	blood:
44	chr4:127632932..127635040-chr4:127639597..127642063,2	K562	blood:
45	chr4:127629211..127631287-chr4:127641916..127644046,2	K562	blood:
46	chr4:127638974..127640928-chr4:127641015..127644597,3	K562	blood:
47	chr4:127571128..127573316-chr4:127581338..127584055,2	K562	blood:
48	chr4:127645103..127647916-chr4:127657804..127660806,3	K562	blood:
49	chr4:127528226..127531522-chr4:127532381..127536256,3	K562	blood:
50	chr4:127587813..127589490-chr4:127637912..127640356,2	K562	blood:

No data

Extended variants
information (count: 4775 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:4775 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563577259	chr4:127532898-127532899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147627155	chr4:127532961-127532962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548892337	chr4:127532964-127532965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567484923	chr4:127532967-127532968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534396926	chr4:127533061-127533062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546310344	chr4:127533146-127533147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183254946	chr4:127533165-127533166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186505188	chr4:127533189-127533190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375115901	chr4:127533220-127533221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142147816	chr4:127533245-127533246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1949106	chr4:127533256-127533257	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs17011332	chr4:127533269-127533270	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs536987113	chr4:127533343-127533344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs313141	chr4:127533368-127533369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs529785371	chr4:127533389-127533390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113646503	chr4:127533401-127533402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573407902	chr4:127533419-127533420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368689661	chr4:127533475-127533476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369011758	chr4:127533521-127533522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528193015	chr4:127533522-127533523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190567807	chr4:127533538-127533539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544614154	chr4:127533604-127533605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562908350	chr4:127533611-127533612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530698245	chr4:127533614-127533615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549284793	chr4:127533627-127533628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533427744	chr4:127533644-127533645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528300384	chr4:127533734-127533735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546245054	chr4:127533767-127533768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551012489	chr4:127533801-127533802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571008828	chr4:127533813-127533814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538390031	chr4:127533899-127533900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76459874	chr4:127533928-127533929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183122304	chr4:127533954-127533955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555260753	chr4:127533982-127533983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10025722	chr4:127534011-127534012	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145900601	chr4:127534059-127534060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559241341	chr4:127534068-127534069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577407350	chr4:127534107-127534108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs313140	chr4:127534163-127534164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368848699	chr4:127534191-127534192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs436796	chr4:127534202-127534203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187780658	chr4:127534215-127534216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192563059	chr4:127534272-127534273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35140922	chr4:127534311-127534312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542521400	chr4:127534314-127534315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546667625	chr4:127534337-127534338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561241405	chr4:127534349-127534350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369420254	chr4:127534383-127534384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11734451	chr4:127534431-127534432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540031594	chr4:127534443-127534444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	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
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127532800-127533600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:127532800-127533600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:127532800-127533600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:127532800-127533800	Enhancers	HMEC	breast
5	chr4:127532800-127534000	Enhancers	K562	blood
6	chr4:127533000-127533600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:127534000-127537200	Weak transcription	K562	blood
8	chr4:127536800-127538600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:127537200-127538000	Enhancers	K562	blood
10	chr4:127538000-127539000	Genic enhancers	K562	blood
11	chr4:127538600-127539200	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr4:127539000-127541400	Strong transcription	K562	blood
13	chr4:127539200-127540400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:127541400-127548400	Weak transcription	K562	blood
15	chr4:127541600-127541800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:127541600-127542400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:127541800-127542200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:127542200-127542400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:127548400-127548800	Strong transcription	K562	blood
20	chr4:127548600-127549000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:127548800-127549000	Genic enhancers	K562	blood
22	chr4:127549000-127551600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:127549000-127553000	Weak transcription	K562	blood
24	chr4:127551200-127551400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:127551200-127551400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:127551200-127551400	Enhancers	Fetal Stomach	stomach
27	chr4:127551200-127551600	Enhancers	Fetal Heart	heart
28	chr4:127551200-127551600	Active TSS	NHDF-Ad	bronchial
29	chr4:127551200-127551800	Enhancers	Colon Smooth Muscle	Colon
30	chr4:127551400-127551600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:127551400-127551600	Active TSS	Fetal Lung	lung
32	chr4:127551400-127551800	Enhancers	Brain Hippocampus Middle	brain
33	chr4:127551400-127551800	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr4:127551400-127551800	Flanking Active TSS	Fetal Stomach	stomach
35	chr4:127551400-127551800	Active TSS	Stomach Smooth Muscle	stomach
36	chr4:127551400-127552200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:127551400-127552200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:127551400-127552200	Enhancers	Rectal Smooth Muscle	rectum
39	chr4:127551400-127552200	Enhancers	Right Ventricle	heart
40	chr4:127551600-127551800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:127551600-127551800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:127551600-127551800	Flanking Active TSS	Fetal Heart	heart
43	chr4:127551600-127551800	Flanking Active TSS	Fetal Lung	lung
44	chr4:127551600-127552200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr4:127551600-127552200	Flanking Active TSS	NHDF-Ad	bronchial
46	chr4:127551800-127552000	Enhancers	Fetal Heart	heart
47	chr4:127552000-127552200	Active TSS	Fetal Heart	heart
48	chr4:127552000-127552200	Enhancers	Gastric	stomach
49	chr4:127552200-127552400	Active TSS	NHDF-Ad	bronchial
50	chr4:127552200-127557400	Weak transcription	Gastric	stomach

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