Variant report

Variant	nsv595386
Chromosome Location	chr4:127597069-127668828
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:84)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:84 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:127655542..127661109-chr4:127874426..127880524,8	K562	blood:
2	chr4:127646443..127648760-chr4:127651080..127655752,5	K562	blood:
3	chr4:127646443..127648760-chr4:127651080..127655752,5	K562	blood:
4	chr4:127612355..127614556-chr4:127616076..127617793,2	K562	blood:
5	chr4:127644087..127646502-chr4:127651699..127653742,2	K562	blood:
6	chr4:127609056..127611061-chr4:127617103..127618757,2	K562	blood:
7	chr4:127655557..127658334-chr4:127703330..127706969,3	K562	blood:
8	chr4:127627173..127629284-chr4:127634747..127636563,2	K562	blood:
9	chr4:127606260..127608204-chr4:127695271..127697298,2	K562	blood:
10	chr4:127645596..127648097-chr4:127648358..127650119,2	K562	blood:
11	chr4:127654312..127657271-chr4:127664785..127667908,3	K562	blood:
12	chr4:127621500..127623013-chr4:127629286..127631384,2	K562	blood:
13	chr4:127608126..127611667-chr4:127611827..127616357,6	K562	blood:
14	chr4:127627173..127629284-chr4:127634747..127636563,2	K562	blood:
15	chr4:127629211..127631287-chr4:127641916..127644046,2	K562	blood:
16	chr4:127618713..127621051-chr4:127622381..127624400,2	K562	blood:
17	chr4:127654180..127661020-chr4:127693803..127700410,12	K562	blood:
18	chr4:127656968..127658978-chr4:127715572..127717474,3	K562	blood:
19	chr4:127639635..127641216-chr4:127646966..127649464,2	K562	blood:
20	chr4:127654312..127657271-chr4:127664785..127667908,3	K562	blood:
21	chr4:127632932..127635040-chr4:127639597..127642063,2	K562	blood:
22	chr4:127640714..127642968-chr4:127649677..127651591,2	K562	blood:
23	chr4:127632853..127635045-chr4:127653984..127656445,2	K562	blood:
24	chr4:127661132..127664302-chr4:127673229..127676858,3	K562	blood:
25	chr4:127608126..127611667-chr4:127611827..127616357,6	K562	blood:
26	chr4:127614427..127618791-chr4:127620273..127622859,5	K562	blood:
27	chr4:127612355..127614556-chr4:127616076..127617793,2	K562	blood:
28	chr4:127621513..127624552-chr4:127627027..127630786,3	K562	blood:
29	chr4:127632932..127635040-chr4:127639597..127642063,2	K562	blood:
30	chr4:127605644..127607876-chr4:127610185..127613110,2	K562	blood:
31	chr4:127638974..127640928-chr4:127641015..127644597,3	K562	blood:
32	chr4:127667569..127669077-chr4:127671156..127673046,2	K562	blood:
33	chr4:127644087..127646502-chr4:127651699..127653742,2	K562	blood:
34	chr4:127639635..127641216-chr4:127646966..127649464,2	K562	blood:
35	chr4:127657779..127661019-chr4:127875846..127879215,3	K562	blood:
36	chr4:127648038..127650424-chr4:127651439..127654033,3	K562	blood:
37	chr4:127587813..127589490-chr4:127637912..127640356,2	K562	blood:
38	chr4:127663543..127666965-chr4:127667854..127672679,5	K562	blood:
39	chr4:127662026..127664437-chr4:127681232..127683698,2	K562	blood:
40	chr4:127652170..127654874-chr4:127875964..127880032,4	K562	blood:
41	chr4:127659055..127662834-chr4:127664504..127669791,5	K562	blood:
42	chr4:127667569..127670144-chr4:127670495..127672656,2	K562	blood:
43	chr4:127605123..127609029-chr4:127609783..127616585,6	K562	blood:
44	chr4:127641934..127643987-chr4:127875955..127878799,2	K562	blood:
45	chr4:127609056..127611061-chr4:127617103..127618757,2	K562	blood:
46	chr4:127642487..127645698-chr4:127876053..127878799,3	K562	blood:
47	chr4:127614427..127618791-chr4:127620273..127622859,5	K562	blood:
48	chr4:127605123..127609029-chr4:127609783..127616585,6	K562	blood:
49	chr4:127619348..127621154-chr4:127636708..127638290,2	K562	blood:
50	chr4:127654777..127657151-chr4:127876043..127879204,4	K562	blood:

No data

Extended variants
information (count: 2705 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2705 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs313055	chr4:127597069-127597070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545939835	chr4:127597070-127597071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183828720	chr4:127597081-127597082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531694710	chr4:127597083-127597084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186983916	chr4:127597128-127597129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562107570	chr4:127597187-127597188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376315972	chr4:127597195-127597196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548493196	chr4:127597204-127597205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566534118	chr4:127597248-127597249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543412474	chr4:127597264-127597265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369358690	chr4:127597272-127597273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534006840	chr4:127597283-127597284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551938392	chr4:127597358-127597359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149474440	chr4:127597360-127597361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72674448	chr4:127597386-127597387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs313056	chr4:127597414-127597415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143044628	chr4:127597458-127597459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554460623	chr4:127597466-127597467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572515890	chr4:127597473-127597474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72674449	chr4:127597476-127597477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192901496	chr4:127597563-127597564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558245795	chr4:127597569-127597570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12507789	chr4:127597578-127597579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs313057	chr4:127597604-127597605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs374474480	chr4:127597611-127597612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562041779	chr4:127597618-127597619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190170450	chr4:127597621-127597622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541724085	chr4:127597628-127597629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138632386	chr4:127597660-127597661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527454979	chr4:127597715-127597716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143362013	chr4:127597743-127597744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79457514	chr4:127597767-127597768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531282809	chr4:127597771-127597772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376286437	chr4:127597791-127597792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201274285	chr4:127597800-127597801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371976505	chr4:127597807-127597808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375139744	chr4:127597808-127597809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs33911811	chr4:127597809-127597810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs398083486	chr4:127597810-127597811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567682517	chr4:127597912-127597913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535451554	chr4:127597938-127597939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554120375	chr4:127597939-127597940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77632508	chr4:127597941-127597942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539788151	chr4:127597987-127597988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558382602	chr4:127598024-127598025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs167502	chr4:127598104-127598105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576739755	chr4:127598117-127598118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs167503	chr4:127598148-127598149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555914242	chr4:127598192-127598193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200715861	chr4:127598251-127598252	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:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127586800-127608800	Weak transcription	K562	blood
2	chr4:127598400-127599000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:127598600-127599000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:127599000-127600000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:127599400-127599800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:127600000-127600400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:127600200-127601800	Enhancers	Fetal Lung	lung
8	chr4:127601800-127603400	Weak transcription	Fetal Lung	lung
9	chr4:127603400-127605600	Enhancers	Fetal Lung	lung
10	chr4:127605600-127607000	Weak transcription	Fetal Lung	lung
11	chr4:127607000-127607200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:127607000-127608000	Enhancers	Fetal Lung	lung
13	chr4:127607400-127608600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:127608000-127608400	Weak transcription	Fetal Lung	lung
15	chr4:127608400-127611200	Enhancers	Fetal Lung	lung
16	chr4:127608600-127609400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:127608600-127610000	Enhancers	Fetal Brain Male	brain
18	chr4:127608600-127610400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:127608800-127609400	Enhancers	NHDF-Ad	bronchial
20	chr4:127608800-127609400	Enhancers	NHLF	lung
21	chr4:127608800-127609600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:127608800-127609600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:127608800-127612600	Strong transcription	K562	blood
24	chr4:127609000-127609200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:127609000-127609400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr4:127609400-127616200	Weak transcription	NHDF-Ad	bronchial
27	chr4:127609400-127618800	Weak transcription	NHLF	lung
28	chr4:127611200-127622800	Weak transcription	Fetal Lung	lung
29	chr4:127612600-127623800	Weak transcription	K562	blood
30	chr4:127615200-127615600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:127615600-127618800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:127616200-127616400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:127616200-127616400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:127616200-127616400	Enhancers	NHDF-Ad	bronchial
35	chr4:127616400-127616600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:127616400-127617800	Weak transcription	NHDF-Ad	bronchial
37	chr4:127616600-127623000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:127617000-127618000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:127617800-127618000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:127617800-127619600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:127617800-127619600	Enhancers	NHDF-Ad	bronchial
42	chr4:127617800-127619800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:127618000-127618600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:127618000-127619600	Enhancers	HUVEC	blood vessel
45	chr4:127618000-127619800	Enhancers	NHEK	skin
46	chr4:127618200-127618400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:127618200-127618600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:127618200-127619600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:127618200-127619600	Enhancers	HMEC	breast
50	chr4:127618200-127619800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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